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Zeitschriftenartikel zum Thema "FISH, LYMPHOMA":
1
Meloni-Ehrig, Aurelia, Christine A. Curtis, Sean P. Mahoney, Nathan Bohls, Claudia Kraemer, Elizabeth Stone, Jean Braun et al. „Significance of Conventional Cytogenetics in Improving the Diagnosis and Prognosis of Lymphoid Neoplasms in Tissue Samples“. Blood 126, Nr. 23 (03.12.2015): 5033. http://dx.doi.org/10.1182/blood.v126.23.5033.5033.
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Abstract Cytogenetic analysis is invaluable for the detection of chromosome abnormalities in tumor samples and is the "gold standard" technique (unique in providing a complete overview of the chromosome complement). Cytogenetic studies of lymph node specimens (LN) can be challenging due to progressively smaller biopsies being procured, low viability, and low proliferative rates. Typically, the initial laboratory evaluation of LN includes flow cytometry and/or immunohistochemistry. Due to overlapping immunophenotypic and morphologic features of some lymphomas, these studies can be insufficient to properly classify a lymphoid neoplasm. Interphase FISH is the test most frequently utilized for LN genetic evaluation. Although FISH has higher sensitivity than conventional cytogenetics, there is vast literature on the existence of cytogenetic abnormalities that are not targeted by the FISH probe(s) used in most laboratories. This is predominantly true for CLL/SLL, but it is also seen in other lymphomas, particularly those characterized by variant translocations involving closely related genes, such as mantle cell lymphoma with alternate translocations involving the CCND2 or CCND3 genes, or lymphomas carrying MYC rearrangements where the partner is not IGH (translocation partners other than Ig genes might merit less aggressive therapy). To achieve the same information obtained from an abnormal karyotype, it is usually necessary to perform multiple FISH tests with significantly increased costs. Genomic microarray and sequencing also have limitations. Microarray can only detect DNA unbalances (missing the balanced translocations that characterize most lymphomas). These whole genomic tests cannot detect multiple related clones indicative of clonal evolution, or unrelated clonal populations indicative of distinct lymphoid neoplasms in the same specimen. Successful cytogenetics offers the best visual representation of the whole chromosome complement and often yields information making it unnecessary to perform additional genetic tests. It should be noted that alternative genetic tests are extremely useful for cases with normal chromosome results or those that lack metaphase cells for analysis, as well as those with cytogenetically cryptic rearrangements or mutations. Recent studies indicate that complex karyotypes in lymphomas are, in general, indicative of transformation and/or worse prognosis. In the present study, for example, several follicular lymphoma cases displayed other abnormalities in addition to the typical t(14;18), some of which are known to be associated with transformation, i.e., deletions 1p, 6q, and 10q. We present our experience with 362 LN received over a 15 month period during 2014 and 2015. See Table below. Through correlation with all diagnostic test results from our laboratory, we demonstrate the unique value of cytogenetic evaluation of lymphoid tissues, optimizing diagnostic/prognostic assessment and, thereby, improving patient management/therapeutic decisions, while achieving cost reduction. Table. A) Summary of cases and subdivision based on successful cytogenetics and normal or abnormal flow/morphology versus normal or abnormal cytogenetics; B) Detailed information on the number of the various lymphoid neoplasms included in our study. Total Cases: 362 No metaphases: 67 (19%) With metaphases: 295 (81%) Normal flow/morphology and normal cytogenetics 74 (25%) Abnormal flow and/or morphology 221 (75%) Normal cytogenetics: 59 (27%) Abnormal Cytogenetics: 162 (73%) Table. Final Diagnosis (Abnormal cytogenetic cases) # cases Sex (M/F) # FISH FISH Abnormal/normal FL 56 25/31 43 43/0 SLL/CLL 32 20/12 21 20/1 HGL 14 7/7 0 0 TCL 14 7/7 5 3/2 MZBCL 13 8/5 8 5/3 DH/THL 10 6/4 10 10/0 DLBCL 8 4/4 8 7/1 MCL 7 4/3 5 4/1 CD30+ 2 0/2 2 1/1 NGCL 2 0/2 2 1/1 BL 1 1/0 1 1/0 LPL 1 1/0 0 0 B-ALL/LBL 1 0/1 1 1/0 HL 1 1/0 1 1/0 Totals 162 84/78 107 (66%) 97/10 Abbreviations: FL, follicular lymphoma; SLL/CLL, small lymphocytic lymphoma/chronic lymphocytic leukemia; HGL, high-grade lymphoma; TCL, T-cell lymphoma; MZBCL, marginal zone B-cell lymphoma; DH/THL, double hit/triple-hit lymphoma; DLBCL, diffuse large B-cell lymphoma; MCL, mantle cell lymphoma,; CD30+, CD30-positive large B-cell lymphoma; NGCL, non-germinal center lymphoma; BL, Burkitt lymphoma; LPL, lymphoplasmacytic lymphoma; B-ALL/LBL, B-cell acute lymphoblastic leukemia/lymphoblastic lymphoma; HL, Hodgkin lymphoma. Disclosures No relevant conflicts of interest to declare.
2
O’Neill, John Patrick, Fiona Quinn, Anita Dowling, Jan Walker, Triona Hayes, Brian Bird und Richard Flavin. „Composite t(14;18)-Negative Follicular Lymphoma and Nodular Lymphocyte-Predominant Hodgkin Lymphoma“. Case Reports in Hematology 2018 (02.08.2018): 1–4. http://dx.doi.org/10.1155/2018/4312594.
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A composite lymphoma is the rare simultaneous occurrence of two or more distinct lymphomas within a single tissue or organ. Herein, we describe a case of a 51-year-old man presenting with a history of lower limb rash, fatigue, and bulky abdominopelvic lymphadenopathy. An excisional left iliac lymph node biopsy was notable for the composite presence of two distinct lymphoid neoplasms, nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL), and follicular lymphoma (FL). Multiplex PCR and FISH analyses failed to demonstrate a t(14;18)(q32;q21) translocation in either composite lymphoma component. A clonal light-chain kappa (V/JC intron-kde) gene rearrangement was detected in the FL component only.
3
Streubel, Berthold, Andrea Lamprecht, Judith Dierlamm, Lorenzo Cerroni, Manfred Stolte, German Ott, Markus Raderer und Andreas Chott. „T(14;18)(q32;q21) involving IGH andMALT1 is a frequent chromosomal aberration in MALT lymphoma“. Blood 101, Nr. 6 (15.03.2003): 2335–39. http://dx.doi.org/10.1182/blood-2002-09-2963.
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T(11;18)(q21;q21) is the most common structural abnormality in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) leading to the fusion of the apoptosis inhibitor-2 (API2) gene and the MALT lymphoma-associated translocation (MALT1) gene. In 2 patients with MALT lymphoma of the liver and skin, respectively, t(14;18)(q32;q21) was observed by cytogenetic analysis. Subsequent fluorescence in situ hybridization (FISH) studies disclosed that the immunoglobulin heavy-chain locus (IGH) and the MALT1 gene were rearranged by this translocation. In order to screen a large series of MALT lymphomas for this aberration, a 2-color interphase FISH assay was established. Among a total of 66 cases, t(14;18)(q32;q21) involving IGH and MALT1 was detected in MALT lymphomas of the liver (4 of 4), skin (3 of 11), ocular adnexa (3 of 8), and salivary gland (2 of 11), but did not occur in MALT lymphomas of the stomach (n = 10), intestine (n = 9), lung (n = 7), thyroid (n = 4), or breast (n = 2). In total, 12 of 66 (18%) MALT lymphomas harbored t(14;18)(q32;q21); 7 additional cases of splenic marginal zone lymphoma tested negative. All of the 12 MALT lymphomas featuring the t(14;18)(q32;q21) were negative for t(11;18)(q21;q21) by reverse transcriptase–polymerase chain reaction (RT-PCR). However, trisomy 3 and/or 18 was found in 4 of 12 cases, suggesting that the t(14;18)(q32;q21) does not occur as the sole genetic abnormality. This study identifies IGH as a new translocation partner of MALT1 in MALT lymphomas, which tend to arise frequently at sites other than the gastrointestinal tract and lung. In contrast to t(11;18)(q21;q21)+ MALT lymphomas, those with t(14;18)(q32;q21) may harbor additional genetic abnormalities.
4
Zhang, John, David Chin, Adam Anthony, Heather Bolton, Cheri Phillips, Anselm Hii und Sing-Tsung Chen. „CD5 and CD23 Positive Mantle Cell Lymphoma Detected by Flow Cytometry and Confirmed by FISH Study t(11;14).“ Blood 104, Nr. 11 (16.11.2004): 4814. http://dx.doi.org/10.1182/blood.v104.11.4814.4814.
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Abstract The differential diagnoses of CD5 positive B-cell lymphoproliferative disorders mainly include chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and mantle cell lymphoma. Occasionally large cell and marginal zone lymphomas may also be CD5 positive. An accurate diagnosis effects patient management. The classical immunophenotype for chronic lymphocytic leukemia/small lymphocytic lymphoma is CD19/CD5/CD23 positive FMC-7 negative cells with dim CD20 and dim light chain expressions, while mantle cell lymphoma is CD19/CD5/FMC-7 positive with bright CD20 and bright light chain expressions. The diagnosis of mantle cell lymphoma is usually confirmed by either immunostain for cyclin D1 or FISH study for t(11;14). In reality, immunostaining for cyclin D1 can be difficult and may show variable results in different laboratories and FISH study may not be readily available. Generally, when it comes to the diagnosis of lymphoma, immunohistochemical positivity of both CD5 and CD23 is almost pathognomic for chronic lymphocytic leukemia/small lymphocytic lymphoma if no fresh tissue is saved for flow cytometry analysis. Flow cytometry analysis of 44 FISH-confirmed mantle cell lymphomas was reviewed in our lab. Among these, 37 showed the classical immunophenotype of mantle cell lymphoma. However, 7 cases (16%) were positive for both CD5 and CD23. The expression of CD23 varied from dim to bright. When compared to typical CLL, they showed FMC-7 expression and brighter than dim light chain expression. In one case, the light chain expression was dim. In conclusion, CD23 expression which was thought to be a specific marker for CLL/SLL may also be seen with mantle cell lymphoma. Although FMC-7 expression is seen in all CD23 positive mantle cell lymphomas, bright light chain expression is not universal. We recommend that FISH or immunohistochemical studies for cyclin D1 be performed on CD5/CD19 clonal B cell proliferations with CD23 expression if morphology or immunophenotype is atypical for CLL/SLL.
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O'Connor, Sheila J. M., Kathryn Turner, Catherine H. Burton und Andrew Jack. „Detection of BCL2 Gene Rearrangements in the Reed-Sternberg Cells of Composite Lymphomas or Newly Diagnosed Hodgkin Lymphoma in Patients with a Previous Diagnosis of Follicular Lymphoma“. Blood 124, Nr. 21 (06.12.2014): 137. http://dx.doi.org/10.1182/blood.v124.21.137.137.
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Abstract Introduction: Composite lymphomas involving Hodgkin lymphoma (HL) and non-Hodgkin lymphomas (CLL, DLBCL, FL, MZL, MCL, T-NHL) are relatively rare but are increasingly frequently diagnosed. This may be a function of the change in diagnostic practice, the more varied and increased treatment of the presenting disease or simply reflect better monitoring post treatment with re-biopsy of lymph nodes. Composite lymphoma is defined as the synchronous and metachronous development of two or more lymphomas in the same patient. The mechanism of pathogenesis underlying its occurrence is not clearly established and in particular the relationship between entities when HL is diagnosed a number of years following successful treatment for follicular lymphoma (FL). Methods: We identified 48 patients with a diagnosis of Hodgkin lymphoma at our centre between January 2005 and June 2014 who had a previous or concurrent diagnosis of another lymphoproliferative disorder. Diagnoses included CLL = 14; follicular lymphoma = 13; DLBCL = 8; mantle cell lymphoma = 1; marginal zone lymphoma = 5; T-cell lymphoma = 3; not specified = 3 and a single patient had CLL, MZL and most recently MCL. The diagnosis of Hodgkin lymphoma was confirmed on the tissue biopsy by using a standard panel of immunohistochemistry markers (CD3, CD20, CD30, IRF4, TARC, CD79, LMP1, BCL6, BOB1, OCT2). This study is focussed on the 13 cases with follicular lymphoma. The aim of the study was to identify a relationship between the Hodgkin lymphoma and the follicular lymphoma using interphase FISH studies to look for identical chromosomal translocations. Results: 8/13 patients had follicular lymphoma diagnosed on an earlier tissue biopsy, range 1-9 years prior to the diagnosis of Hodgkin lymphoma; 7/8 of these FL cases had bone marrow staging carried out at presentation and 5/7 had involvement by FL. 5/13 were newly presenting patients with composite lymphoma; 3/5 had a staging marrow which in each case showed evidence of follicular lymphoma alone with no evidence of Hodgkin lymphoma. In total, 7/13 patients fit the criteria for composite lymphoma with Hodgkin lymphoma and follicular lymphoma occupying distinct zones within the same tissue biopsy. The remaining 6/13 patients show no evidence of follicular lymphoma in the current biopsy and are indistinguishable from de novo presentation of Hodgkin lymphoma. Interphase FISH was used to assess for a genetic relationship between the disease entities. 3µ sections were cut from formalin fixed paraffin processed tissue, using the same block where possible as the H&E and immunohistochemistry. All cases were independently assessed by two experienced scientists with knowledge of histology and FISH reporting on thin sections. 8/13 cases had suitable samples for FISH, the remaining 5 cases had insufficient material remaining in the block. Commercial probes for BCL2 ‘Split-Signal’ (Abbott/Vysis or Dako) were used and FISH results were examined using a Zeiss microscope with MetaSystem image capture. All 8 cases showed BCL2 gene rearrangement in the Reed-Sternberg (RS) cells (5/8 cases were de novo group of Hodgkin lymphoma with no morphological or phenotypic evidence of FL in the tissue and 3/8 were composite lymphoma with distinct zoning). One rare case contained RS cells in a dab/imprint preparation made from the fresh tissue, FICTION technique was carried out on this case combining CD30 immunofluorescent staining with FISH for BCL2 gene rearrangement confirming RS cell type with BCL2 gene rearrangement. CONCLUSIONS The identification of BCL2 gene rearrangement in RS cells, the hallmark cell of Hodgkin lymphoma, in this series of composite lymphomas suggests a relationship between the B cells of follicular lymphoma and the RS cells of HL. The presence of the same chromosomal abnormalities identified in more than one lymphoma cell type indicates the same clonal cell of origin. Disclosures Jack: Roche: Research Funding; Genentech: Collaboration, Collaboration Other.
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Safley, Anne M., Patrick J. Buckley, Andrew J. Creager, Rajesh C. Dash, Leslie G. Dodd, Barbara K. Goodman, Claudia K. Jones et al. „The Value of Fluorescence In Situ Hybridization and Polymerase Chain Reaction in the Diagnosis of B-Cell Non-Hodgkin Lymphoma by Fine-Needle Aspiration“. Archives of Pathology & Laboratory Medicine 128, Nr. 12 (01.12.2004): 1395–403. http://dx.doi.org/10.5858/2004-128-1395-tvofis.
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Abstract Context.—Molecular genetic analyses have been predicted to improve the diagnostic accuracy of fine-needle aspiration of B-cell non-Hodgkin lymphoma. Objective.—To determine the value of routine molecular genetic assays, polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH), in the diagnosis of B-cell non-Hodgkin lymphoma by fine-needle aspiration (FNA). Design.—A multiparametric method, including cytology, flow cytometry, PCR, and FISH, was prospectively evaluated in the diagnosis of B-cell non-Hodgkin lymphoma by FNA. Aspirates from 30 consecutive patients with suspected hematolymphoid malignancies were collected. All aspirates were triaged through a uniform program including cell-size analysis, B- and T-cell clonality studies, flow cytometric immunophenotyping, and bcl-1 and bcl-2 gene rearrangements by PCR and FISH. After completion of FNA evaluations, FNA results were compared with diagnoses from prior or subsequent surgical biopsies. Results.—Monoclonal B-cell populations were detected in 18 of 20 B-cell non-Hodgkin lymphomas by flow cytometry and PCR. bcl-1 gene rearrangement was detected in 2 of 2 cases of mantle cell lymphoma. bcl-2 rearrangement was detected in 5 cases including 4 of 4 low-grade follicular lymphomas and 1 transformed follicular lymphoma. By incorporating the results of molecular genetic and ancillary diagnostics, a definitive classification was reached in 12 cases of B-cell non-Hodgkin lymphoma by FNA, including all cases of low-grade follicular lymphoma (4/4) and mantle cell lymphoma (2/2) and approximately 50% of small lymphocytic lymphoma (2/4) and large B-cell lymphoma (4/8). Ten of the 12 cases with a final classification reached by FNA had either prior or follow-up surgical biopsies, and all 10 cases showed agreement between the diagnoses rendered on FNA and surgical biopsies. Conclusions.—With proper handling and management of specimens, FNA can routinely provide samples adequate for molecular genetic studies, in addition to cytomorphology and flow cytometry, making it possible to consistently render accurate and definitive diagnoses in a subset of B-cell non-Hodgkin lymphomas. By incorporating FISH and PCR methods, FNA may assume an expanded role for the primary diagnosis of B-cell non-Hodgkin lymphoma.
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Mitter, Navnit S., Stephen Lanno, Jason Blackson, Michelle Donskoy und Ralph Ehrenpreis. „Development of a Reflex FISH Assay Panel for Lymphoid Neoplasms Resulted Negative by Cytogenetics and Current FISH Panel and Positive by Hematopathology.“ Blood 114, Nr. 22 (20.11.2009): 4722. http://dx.doi.org/10.1182/blood.v114.22.4722.4722.
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Abstract Abstract 4722 Fluorescence in situ hybridization (FISH) panel for detecting lymphoid neoplasms in interphase nuclei currently used at most of the laboratories initially utilizes the IGH (14q32.3) locus specific probe and based on negative or positive results obtained, additional testing is done with either the BCL6 (3q27), MYC (8q24) and MALT1 (18q21) locus specific probes, or the MYC/IGH (8q24/14q32.3), CCND1/IGH (11q13/14q32.3) and IGH/BCL2 (14q32.3/18q22) locus specific probes, respectively. Although these probes detect a large number of lymphoma-related abnormalities, approximately 10% of cases are still resulted negative by this FISH panel, as well as cytogenetics analysis on lymphoid mitogens stimulated bone marrow/peripheral blood cultures, but positive by hematopathology. Apparently, a need exists for either an expansion of this FISH panel or development of a reflex FISH panel to be used only when the current FISH panel fails to detect any abnormality in such cases. We selected three additional probes, TCR a/d, MYB and ALK to test further in a pilot study including twenty-five such patients, based on a high number of studies describing involvement of specific loci in gene rearrangements in lymphoid neoplasms. TCR a/d (14q11) locus is frequently involved in gene rearrangements in T-cell lymphomas and leukemias. These rearrangements include t(1;14)(q32;q11), t(1;14)(q34;q11), t(7;14)(p15;q11), t(7;14)(q34-35;q11), t(8;14)(q24;q11), t(10;14)(q24;q11), t(11;14)(p13;q11), t(11;14) (p15;q11) and inv(14)(q11;q32)/t(14;14)(q11;q32), among others. MYB (6q23) locus shows loss of heterozygosity in a high proportion of patients with peripheral T-cell and NK/T-cell lymphomas. ALK (2p23) locus has also been well documented as involved in gene fusion with multiple partner loci, including 1q21, 2q11-13, 2q35, 3q21, 5q35, 17q23, 19p13.1 and Xq11-12 in Ki-1-positive anaplastic large cell lymphoma, a subtype of non-Hodgkin lymphoma involving Ki-1 antigen. A known negative control for each probe and a known MYB-positive control were used in a blind-coded set-up with the criteria of a positive result with abnormal probe signal pattern in at least 5% (10/200) of cells examined with the validated standard FISH protocols. This experimental reflex panel succeeded in detecting abnormalities in three of the twenty-five (12%) patients included in this pilot study. Two cases were positive for the loss of heterozygosity for the MYB locus, while one case was positive for involvement of TCR a/d locus in a translocation. The ALK probe did not detect any additional abnormality, but none of the patients had a hematopathology diagnosis of Ki-1+ anaplastic large cell lymphoma. Only four of the twenty-five patients studied had a hematopathology diagnosis of a T-cell disorder. Further, some of the patients included in this study had a low percentage of cells found abnormal by hematopathology. These factors could have affected the observed rate of abnormalities by this reflex FISH panel. Still, with 12% of patients showing abnormalities with this reflex FISH panel, this pilot study clearly demonstrates the usefulness of incorporation of this reflex FISH panel in the standard protocols for FISH studies in lymphoid neoplasms. We plan to continue investigation on additional patients meeting the criteria for inclusion in this study. Disclosures: No relevant conflicts of interest to declare.
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Verghese, Cherian, Weihong Li, Nanuli Gvazava, Emmanouil Alimpertis, Navkirat Kahlon, Hongliu Sun und Robert Booth. „IGH/BCL2 Status Better Predicts Clinico-Pathological Behavior in Primary Splenic Follicular Lymphoma than Histological Grade and Other Molecular Markers“. Clinical Pathology 15 (Januar 2022): 2632010X2211292. http://dx.doi.org/10.1177/2632010x221129242.
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Splenic lymphoma may be primary or secondary. Primary splenic lymphoma’s are rare and usually of follicular cell origin representing <1% of Non-Hodgkin’s Lymphoma’s. Most are secondary with 35% representing Marginal Cell sub-type with the rest being Diffuse Large B-Cell Lymphoma’s. Unlike the uniformly aggressive clinical course of Diffuse Large B-Cell Lymphoma’s, biological behavior of Primary Splenic CD10-Positive Small B-Cell Lymphoma/Follicular Lymphoma remains less well defined. We present here a solitary splenic mass confirmed as Primary Splenic CD10-Positive Small B-Cell Lymphoma/Follicular Lymphoma after a diagnostic splenectomy. Biopsy revealed monomorphic small lymphoid cells with low grade mitotic activity. Flow cytometry showed a lambda restricted population of B-Cells displaying dim CD19 and CD10. The cells were negative for CD5, CD11c, and CD103. FISH was negative for IGH/BCL2 fusion unlike nodal Follicular Lymphoma’s which are usually positive for this translocation. Evidence from this case and a review of literature support the finding that Primary Splenic CD10-Positive Small B-Cell Lymphoma/Follicular Lymphoma is less likely to have the classic IGH-BCL2 fusion and the associated chromosomal 14;18 translocation. This profile is associated with less aggressive clinical behavior even when histopathology represents a high-grade pattern. In such cases splenectomy alone is adequate for localized disease when negative for IGH/BCL2 fusion regardless of histological grade.
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Dierlamm, Judith, Mathijs Baens, Margarita Stefanova-Ouzounova, Kristina Hinz, Iwona Wlodarska, Brigitte Maes, Anja Steyls et al. „Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLTspecific probes“. Blood 96, Nr. 6 (15.09.2000): 2215–18. http://dx.doi.org/10.1182/blood.v96.6.2215.
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Abstract The translocation of chromosome 11, long arm, region 2, band 1, to chromosome 18, long arm, region 2, band 1 (t(11;18)(q21;q21)) represents a recurrent chromosomal abnormality in extranodal marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (MALT) type and leads to a fusion of the apoptosis inhibitor-2 (API2) gene on chromosome 11 and the MALT lymphoma-associated translocation (MLT) gene on chromosome 18. A 2-color fluorescence in situ hybridization (FISH) assay, which can be used for the detection of t(11;18) in interphase nuclei and metaphase chromosomes on fresh and archival tumor tissue, was developed. The P1 artificial chromosome (PAC) clone located immediately telomeric to the MLT gene and the PAC clone spanning the API2 gene were differentially labeled and used to visualize the derivative chromosome 11 resulting from t(11;18), as evident by the overlapping or juxtaposed red and green fluorescent signals. The assay was applied to interphase nuclei of 20 cases with nonmalignant conditions and 122 B-cell non-Hodgkin's lymphomas (NHLs). The latter group comprised 20 cases of nodal follicle center cell lymphoma and diffuse large B-cell NHL, 10 cases of gastric diffuse large B-cell lymphoma, 10 cases of hairy cell leukemia, and 82 cases of MZBCL (41 extranodal from various locations, 19 nodal, and 22 splenic MZBCL) including 35 cases with an abnormal karyotype, 2 of which revealed t(11;18). By interphase FISH, t(11;18) was detected in 8 gastrointestinal low-grade MALT-type lymphomas including the 2 cytogenetically t(11;18)+ cases. In the 8 t(11;18)+ cases, the FISH results were confirmed by reverse transcriptase–polymerase chain reaction (RT-PCR) usingAPI2 and MLT specific primers. Our results indicate that t(11;18)(q21;q21) specifically characterizes a subgroup of low-grade MZBCL of the MALT-type and that the FISH assay described here is a highly specific and rapid test for the detection of this translocation.
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Dierlamm, Judith, Mathijs Baens, Margarita Stefanova-Ouzounova, Kristina Hinz, Iwona Wlodarska, Brigitte Maes, Anja Steyls et al. „Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLTspecific probes“. Blood 96, Nr. 6 (15.09.2000): 2215–18. http://dx.doi.org/10.1182/blood.v96.6.2215.h8002215_2215_2218.
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The translocation of chromosome 11, long arm, region 2, band 1, to chromosome 18, long arm, region 2, band 1 (t(11;18)(q21;q21)) represents a recurrent chromosomal abnormality in extranodal marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (MALT) type and leads to a fusion of the apoptosis inhibitor-2 (API2) gene on chromosome 11 and the MALT lymphoma-associated translocation (MLT) gene on chromosome 18. A 2-color fluorescence in situ hybridization (FISH) assay, which can be used for the detection of t(11;18) in interphase nuclei and metaphase chromosomes on fresh and archival tumor tissue, was developed. The P1 artificial chromosome (PAC) clone located immediately telomeric to the MLT gene and the PAC clone spanning the API2 gene were differentially labeled and used to visualize the derivative chromosome 11 resulting from t(11;18), as evident by the overlapping or juxtaposed red and green fluorescent signals. The assay was applied to interphase nuclei of 20 cases with nonmalignant conditions and 122 B-cell non-Hodgkin's lymphomas (NHLs). The latter group comprised 20 cases of nodal follicle center cell lymphoma and diffuse large B-cell NHL, 10 cases of gastric diffuse large B-cell lymphoma, 10 cases of hairy cell leukemia, and 82 cases of MZBCL (41 extranodal from various locations, 19 nodal, and 22 splenic MZBCL) including 35 cases with an abnormal karyotype, 2 of which revealed t(11;18). By interphase FISH, t(11;18) was detected in 8 gastrointestinal low-grade MALT-type lymphomas including the 2 cytogenetically t(11;18)+ cases. In the 8 t(11;18)+ cases, the FISH results were confirmed by reverse transcriptase–polymerase chain reaction (RT-PCR) usingAPI2 and MLT specific primers. Our results indicate that t(11;18)(q21;q21) specifically characterizes a subgroup of low-grade MZBCL of the MALT-type and that the FISH assay described here is a highly specific and rapid test for the detection of this translocation.
Dissertationen zum Thema "FISH, LYMPHOMA":
1
Guazzo, Raffaella. „THE UTILITY OF INTERPHASE FLUORESCENCE IN SITU HYBRIDIZATION IN THE DIAGNOSIS OF LYMPHOMAS“. Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1193922.
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Lymphomas are characterized by heterogeneous biology, pathologic features, and clinical outcome.
They are classified based on the normal counterpart, or cell of origin, from which they arise. Because
lymphocytes have physiologic immune functions that vary both by lineage and by stage of
differentiation; the classification of lymphomas coming from these normal lymphoid populations is
complex. Genomic instability is a feature of lymphomas due to aberrant alterations at genetic,
epigenetic, transcriptional, protein, and dysregulated oncogenic signaling pathways. Detection of
specific chromosomal abnormalities is essential in diagnosing of several lymphoproliferative
disorders. Interphase FISH investigates cytogenetic alterations, the gold standard technique localizes
fluorescent signals to specific interphase non-dividing cells.
Translocations and rearrangements are the common chromosomal alterations of lymphomas
involving proto-oncogenes and tumor suppressors.
The common abnormalities include: t (11;14) (q13; q32) in mantle cell lymphoma and in some cases
of plasma cell myeloma; t(14;18)(q32;q21) in follicular lymphoma; t(8;14)(q21;q32) in Burkitt
lymphoma; t(11;18)(q21;q21) in MALT lymphoma; BCL6 rearrangement in Large B-cell Diffuse
Lymphoma (LBCL); IRF4/DUSP22 rearrangement in LBCL; t(2;5)(p23;q35) NPM-ALK in T-cell
lymphomas. Less commonly are deletions, trisomy 12 or partial trisomy 12q13 in Chronic
Lymphocytic Leukaemia (CLL).
The WHO has recently introduced a particular type of lymphoma morphologically similar to Burkitt
Lymphoma but without t (8;14) (q24; q32): instead, the following entity is cytogenetically
characterized by a peculiar pattern of an 11q aberration consisting of a gain in 11q23.2-23.3 followed
by a telomeric loss in 11q24.1-qter.
This study aims to standardize Interphase FISH for diagnosing lymphoma associated with
immunophenotypic features, focusing our attention on particular cases showing interested genic
abnormalities, such as 11q alterations and t (11;14) in Precursor T-Lymphoblastic Transformation of
Mantle Cell Lymphoma.
During this study, we have also performed ImmunoFISH, a method combining immunolabelling with
fluorescent in situ hybridization (FISH) to simultaneously detect the nucleo-cytoplasmic distribution
of proteins and specific nucleotide sequences within the chromosomes.
2
HajMohammadi, Sassan. „Development of FISH technology in pathological tissue“. Thesis, University of Southampton, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284578.
3
Barrans, Sharon Louise. „Immunophenotypic and molecular approaches to the classification of diffuse large B cell lymphoma“. Thesis, Manchester Metropolitan University, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.366169.
4
Chang, Cindy Ma Schroeder Jane C. „Fluorescence in situ hybridization (FISH) and risk factors for non-Hodgkin lymphoma (NHL) subtypes defined by t(14;18) translocations and bcl-2 expression“. Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2007. http://dc.lib.unc.edu/u?/etd,1212.
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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2007.Title from electronic title page (viewed Mar. 26, 2008). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Epidemiology." Discipline: Epidemiology; Department/School: Public Health.
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Baró, Llàcer Cristina. „Aplicació de la citogenètica, hibridació in situ fluorescent (FISH) i cariotipat espectral (SKY) per a la caracterització genètica dels limfomes de la zona marginal esplènica“. Doctoral thesis, Universitat Autònoma de Barcelona, 2016. http://hdl.handle.net/10803/368220.
Annotation:
El limfoma de la zona marginal esplènica (LZME) és una entitat reconeguda per la Organització Mundial de la Salut (OMS) amb característiques clíniques, morfològiques i immunofenotípiques ben establertes. Els LZME en contrast amb altres síndromes limfoproliferatives B (SLP-B) no presenta una lesió gènica característica associada. Les alteracions cromosòmiques complexes són freqüents i es troben en un 80% dels casos, i la deleció de 7q i la trisomia 3 són les anomalies més recurrents i considerades típiques en els LZME. A part dels cromosomes 3 i 7, els estudis més recents han descrit com a cromosomes més implicats en aquesta patologia el 1, 6, 8, 12 i 14. D’altra banda, pel que fa a les translocacions que afecten els gens de les immunoglobulines (Ig), només s’han publicat treballs de forma esporàdica concloen que es tracta d’un esdeveniment secundari en els LZME.
L’objectiu d’aquest treball és un estudi citogenètic exahustiu dels LZME utilitzant les tècniques de citogenètica convencional, hibridació in situ fluorescent (FISH) i cariotipat espectral (SKY) per tal de detectar noves alteracions i marcadors genètics associats a aquesta patologia.
Els resultats obtinguts confirmen l’elevada incidènica de la deleció de 7q i la trisomia 3 així com una alta implicació dels cromosomes 3, 6, 8, 9 i 12. La tècnica de l’SKY ha estat molt útil per a definir els cariotips complexes i juntament amb posterior l’aplicació de la tècnica de FISH hem pogut detectar noves translocacions cromosòmiques associades als LZME. Així mateix hem observat que les translocacions implicant els gens de les Ig són més habituals del que ha estat descrit fins ara en aquesta entitat i que molts cops queden emmascarades per la complexitat dels cariotips.Splenic marginal zone lymphoma (SMZL) is a well recognized entity by the World Health Organization (WHO) that show clinical, morphological and immunophenotypical characteristic features. In contrast with other B-cell lymphoproliferative disorders, SMZL does not present an associated genetic aberration. Complex chomosomal alterations are obseved in about 80% of cases and 7q deletion and trisomy 3 are the most recurrent anomalies and are considered characteristic in SMZL. Apart from 3 and 7, recent studies described as the more frequent involved chromosomes in this entity chromosomes 1, 6, 8, 12 and 14. Regarding translocations involving immunoglobulin (Ig) genes, only few sporadic series has been published concluding that Ig translocations could be a secondary event in SMZL. The aim of this memory is to present a comprehensive study of SMZL performing conventional banding cytogenetic, fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) techniques to detect new aberrations and genetic markers associated with this entity. Our results confirm the high incidence of 7q deletion and trisomy 3 as well as a high implication of chromosomes 3, 6, 8, 9 and 12 in chromosomal alterations. SKY technique was very helpful to redefine complex karyotypes and combined with FISH techniques we could detect new chromosomal translocations associated to SMZL. In the same way, we could observe that translocations involving Ig genes are more common than has been described in this entity and in some cases these aberrations are masked by the complexity of the karyotypes.
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Tapia, Meledo Gustavo. „Alteraciones del gen MYC en linfomas agresivos de células B: evaluación mediante FISH, relación con la expresión proteica y valor pronóstico“. Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/325161.
Annotation:
En la presente tesis doctoral hemos estudiado diferentes aspectos metodológicos en la caracterización del gen MYC de aplicación práctica en el diagnóstico, tratamiento y valoración pronóstica de linfomas agresivos de células B, y hemos aplicado estos conocimientos metodológicos en un subgrupo de linfomas concreto: los linfomas primarios del sistema nervioso central (CNS-DLBCL).
En el primer trabajo de la tesis demostramos que el gen MYC se encuentra reordenado en un subgrupo de linfomas difusos de células grandes B (DLBCL), además de linfomas de Burkitt (BL) y linfomas inclasificables de características intermedias (BCLU). La presencia de la traslocación del gen MYC se asoció a una mayor expresión proteica que puede detectarse mediante técnicas inmunohistoquímicas (70% vs. 28% en la serie global y 61% vs. 28% en DLBCL). La sobreexpresión de MYC no se correlacionó con la presencia de ganancia de copias del gen, con otros marcadores inmunohistoquímicos (CD10, BCL6, BCL2 y MUM1), el índice de proliferación celular (Ki67) o el subtipo molecular según el algoritmo de Hans. Por otro lado, observamos que un subgrupo de DLBCL sin reordenamiento del gen MYC expresa niveles proteicos elevados, los culaes deben obedecer a mecanismos alternativos al reordenamiento génico. En el segundo trabajo de la tesis comparamos los resultados obtenidos al estudiar el estado del gen MYC mediante diferentes sondas comerciales de FISH: una sonda de fusión IGH-MYC y dos sondas de separación. En los 13 casos con reordenamiento IGH-MYC, la traslocación pudo detectarse con las tres sondas evaluadas. Por el contrario, en 7 de los 13 casos (54%) con reordenamiento no-IGH-MYC (IGK-MYC, IGL-MYC o no-IG-MYC), la traslocación pudo detectarse inequívocamente con una única sonda (de separación), siendo el resultado de las otras sondas no concluyente o negativo (falso negativo). Por otro lado, 9 de los 15 casos (60%) con un patrón sugestivo de traslocación no-IGH-MYC con la sonda de fusión eran debidos a ganancia de copias del gen MYC, y no a la presencia de reordenamiento, tal y como se demostró con las dos sondas de separación (falso positivo). En base a los datos obtenidos en este estudio, proponemos una aproximación doble con el uso de una sonda FISH de fusión y otra de separación a la hora de valorar la presencia de alteraciones en la banda cromosómica 8q24. Finalmente, en el último trabajo de la tesis evaluamos el papel del reordenamiento del gen MYC junto con los genes BCL2 y BCL6 y su expresión proteica en el CNS-DLBCL y su posible valor pronóstico. En una serie de 42 CNS-DLBCL observamos unos niveles elevados de expresión del gen MYC en el 43% de los casos, y esta expresión elevada se correlacionó con una menor supervivencia global (OS). La expresión de niveles elevados de MYC no era debida a la presencia de reordenamientos del gen, ya que no se demostró reordenamiento del gen MYC en ningún caso. Los linfomas con una coexpresión de niveles elevados de MYC y BCL2 mostraron una menor OS, si bien las diferencias no fueron estadísticamente significativas. En ningún caso se detectó la traslocación del gen BCL2. El gen BCL6 se encontraba reordenado con frecuencia (44% de los casos), pero la presencia de traslocaciones no se correlacionó con el pronóstico. En conclusión, en este estudio demostramos que el CNS-DLBCL con frecuencia presenta sobreexpresión del gen MYC, y que esta sobreexpresión identifica un subgrupo de linfomas con comportamiento más agresivo. Por lo tanto, el estudio de la expresión del gen MYC mediante inmunohistoquímica podría ayudar a una valoración pronóstica más precisa en el CNS-DLBCL.In this doctoral thesis we have studied some methodological aspects in the MYC gene characterization with clinical utility in the diagnosis, treatment and prognostic evaluation of aggressive B-cell lymphomas. Specifically, we have applied this knowledge to the study of a lymphoma subgroup: diffuse large B-cell lymphoma of the central nervous system (CNS-DLBCL) In the first study we found that some diffuse large B-cell lymphomas (DLBCLs), such as Burkitt’s lymphoma a(BL), harbored MYC gene rearrangements. MYC gene translocation was associated with higher MYC protein expression as assessed by immunohistochemistry (70% vs. 28% in the whole series and 61% vs. 28% in DLBCL cases). MYC protein expression was not related with increased MYC gene copy numbers, the other immunohistochemical markers evaluated (CD10, BCL6, BCL2 and MUM1), the proliferative index (Ki67) or the cell of origin according to Hans algorithm. Moreover, we found that some DLBCLs lacking MYC gene rearrangements show high levels of MYC protein expression, due to unknown mechanisms. In the second study, we assessed the impact of FISH probe selection in the evaluation of MYC gene rearrangement. The results obtained with one fusion IGH-MYC and two break-apart commercial probes in a series of 91 aggressive B-cell lymphomas were compared. All cases (n=13) with IGH-MYC translocation could be detected with all three probes. However, 7 of 13 cases (54%) with non-IGH-MYC (IGK-MYC, IGL-MYC or non-IG-MYC) were unambiguously detected by just one of the probes tested, whereas the other probes yielded non-conclusive or negative results (false negative). On the other hand, when the IGH-MYC fusion probe was used, 9 of 15 cases (60%) with hybridization patters suggestive of a non-IGH-MYC rearrangement were attributable to MYC copy gain rather than MYC translocation, as demonstrated by both break-apart probes (false positive). Our results indicate that detection of MYC gene rearrangement could be optimized by a two-probe approach involving the application of both IGH-MYC dual-fusion and MYC break-apart selected probes. Finally, in the third study, we evaluated the role of MYC, BCL2 and BCL6 gene status and their protein expression in a series of 42 CNS-DLBCL. We observed high MYC protein expression in 43% of cases, and this was associated with lower overall survival (OS). MYC protein expression was not related to MYC gene rearrangement, since translocation was not found in any instance. Cases with concurrent expression of MYC and BCL2 showed a lower OS, although the difference did not reach statistical significance. Translocation involving BCL2 gene was not detected in any case. The BCL6 gene was frequently translocated (44%), but it was unrelated to survival. In conclusion, we found that CNS-DLBCLs frequently show MYC protein overexpression and that its immunohistochemical detection may contribute to a more accurate risk stratification of CNS-DLBCL patients.
7
Brocardo, Graciela Aparecida. „Avaliação do comprimento dos telômeros em células infectadas pelo vírus HTLV-I utilizando a técnica hibridização in situ fluorescente e citometria de fluxo (Flow-FISH)“. Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/5/5167/tde-25032009-174020/.
Annotation:
INTRODUÇÃO: A Leucemia/Linfoma de células T do adulto (ATL) é uma doença linfoproliferativa crônica com transformação clonal predominantemente de linfócitos TCD4+, causada pelo vírus linfotrópico T humano do tipo I (HTLV-I). A ATL se desenvolve em 3-5% dos portadores do vírus HTLV-I, após longo período de latência clínica, acompanhado de expansão clonal dos linfócitos infectados. As células da ATL apresentam várias anormalidades cromossômicas, semelhantes àquelas resultantes de disfunção telomérica e a instabilidade genômica contribui para o desenvolvimento da ATL. Para entender o papel do encurtamento telomérico na oncogênese da ATL, avaliamos o comprimento dos telômeros de linfócitos TCD4 e TCD8 em portadores do vírus HTLV-I e em portadores de ATL. RESULTADOS: Não foi evidenciada diferença significativa no comprimento de telômero dos subtipos linfocitários TCD4+ e TCD8+ entre portadores do vírus HTLV-I e indivíduos saudáveis, assim como, entre portadores de ATL e indivíduos saudáveis. Entretanto, quando incluímos na análise a variável idade, evidenciamos redução significativa do comprimento do telômero com a idade em portadores do vírus HTLV-I e maior perda telomérica nos portadores do vírus HTLV-I e portadores de ATL em relação aos indivíduos saudáveis de mesma idade, embora a diferença entre os grupos não atinja o nível de significância estatística. Estes resultados podem ser explicados pelo fato de que as células dos indivíduos infectados pelo vírus HTLV-I apresentam maior taxa proliferativa devido à ação viral, mesmo em estado de latência clínica. A perda telomérica em função da idade nos portadores de ATL não demostrou-se significativa devido ao pequeno número de casos analisados em decorrência da raridade da doença. Entretanto, quando analisamos o comprimento telomérico nos subtipos linfocitários de portadores de ATL, evidenciamos acentuada perda telomérica na célula maligna e valores próximos ao limite superior esperado para a idade no subtipo linfocitário não transformado, demonstrando que a disfunção telomérica deve estar associada à transformação celular. Estabelecemos valores de referência de comprimento telomérico dos subtipos linfocitários TCD4+ e TCD8+ de indivíduos saudáveis, definidos por faixa etária. CONCLUSÃO: Nossos resultados demonstram que portadores do vírus HTLV-I apresentam maior perda telomérica em função da idade que indivíduos saudáveis, mas, sem refletir significância estatística e clínica. Entretanto, portadores de ATL apresentam perda acentuada de comprimento de telômero na célula maligna, demonstrando que a determinação do comprimento de telômero pode auxiliar futuramente o monitoramento dos indivíduos infectados pelo HTLV-I, indicando conversão à doençaINTRODUCTION: Adult T-cell Leukemia/Lymphoma (ATL) is a chronic lymphproliferative disease with clonal transformation predominantly of the TCD4+ lymphocytes, caused by the Human T lymphotropic virus type-I (HTLV-I). ATL develops itself in 3-5% of HTLV-I carriers after a long period of clinical latency accompanied by clonal expansion of the infected lymphocytes. The ATL cells present several chromosomic abnormalities, similar to those resulting from telomere dysfunction and the genomic instability contributes to the development of ATL. In order to understanding the role of telomeric shortening in the ATL oncogenesis, we assessed the length of telomeres of lymphocytes TCD4 and TCD8 in HTLV-I carriers and in ATL carriers. RESULTS: No significant difference was evidentiated in the telomere length of lymphocytary subtypes TCD4+ and TCD8+ between HTLV-I carriers and healthy subjects, as well as, between ATL carriers and healthy subjects. However, when the age variable was included in the analysis, we observed significant decrease of telomeric length with age progression in HTLV-I carriers and higher telomeric loss in HTLV-I carriers and ATL carriers when compared to healthy subjects of the same age, although the difference between groups does not reach the level of statistic relevance. These results may be explained by the fact that the cells of HTLV-I infected subjects present higher proliferative rate due to the viral action, even during clinical latency. Age-related telomeric loss in ATL carriers did not manifest itself as significant due to the small number of analyzed cases as a consequence of the diseases rareness. However, when the telomere length on the lymphocytary subtypes of ATL carriers was analyzed, we evidentiated accentuated telomeric loss in the malignant cell and values close to the age-expected upper limit in the nontransformed lymphocytary subtype, demonstrating that the telomere dysfunction may be associated to the cellular transformation. We have determined reference values of telomere length for lymphocytary subtypes TCD4+ and TCD8+ on healthy subjects, defined by age range. CONCLUSION: Our results demonstrate that HTLV-I carriers present higher telomeric loss due to age than healthy subjects, however, with no reflection in clinical and statistical significance. Nevertheless, ATL carriers present accentuated loss of telomere length in the malignant cell, demonstrating that the telomere length determination may, in the future, assist in the monitoring of HTLV-I infected subjects, indicating conversion to the disease
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Doggett, Teresa Ann. „The structure and function of peripheral blood leucocytes and gut-associated lymphoid tissue in the cichlid, Oreochromis mossambicus“. Thesis, University of Plymouth, 1989. http://hdl.handle.net/10026.1/2776.
Annotation:
The peripheral blood of O.mossambicus was examined using light and electron microscopy and was found to contain four forms of leucocytes: lymphocytes, thrombocytes, monocytes and three types of granulocytes. The monocyte and two types of granulocyte were found to be phagocytic and ingest colloidal carbon and bacteria. The alimentary tract was found to contain a number of leucocytes, some showing a morphological similarity to those in the peripheral blood, while others were unique to the gut tissue. These intestinal leucocytes were found mainly as a diffuse cell population in the epithelium and lamina propria, and only occasionally as discrete lymphoid accumulations within the gut tissue. Ontogenic studies showed that a limited number of leucocytes were found in the gut tissue after hatching, however, there was a gradual increase in these numbers once exogenous feeding began. The intestinal enterocytes of both the anterior and posterior intestine were found to take up intubated macromolecules. An electron microscopical investigation revealed that these macromolecules were absorbed by pinocytosis and were found within large intraepithelial macrophages. These macromolecules were also absorbed and transported into the systemic circulation. In juvenile fish macromolecules were detected in the plasma following both oral and anal intubation, however, in adult fish they were detected in the plasma only after anal intubation, and in smaller quantities. Macromolecular absorption in O.mossambicus was compared to that in two other fish species, Cyprinus carpio and Sa1mo gairdneri, and it was found that higher levels of absorbed macromolecules were found in the plasma of O.mossambicus. Bovine serum albumin absorption by the gut of the three species revealed that both the 'intact' macromolecule and smaller antigenic fragments, probably resulting from enzymatic modification, were ansorbed and transported into the plasma.
Bücher zum Thema "FISH, LYMPHOMA":
1
Bunch, Chris. Splenomegaly and other disorders of the spleen. Herausgegeben von Patrick Davey und David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0035.
Annotation:
The spleen is a predominantly lymphoid organ, normally about the size of a clenched fist located beneath the diaphragm in the left upper abdomen. It has a dual role as a filter for the circulation, and a primary lymphoid organ in its own right. About three-quarters of its volume is a matrix of capillaries and sinuses (the red pulp), through which blood is able to percolate slowly and come into contact with fixed macrophages, which are able to remove senescent or damaged red cells, or other particulate matter such as bacteria. The lymphoid tissue is organized into scattered follicles (the white pulp), which have a particularly important role in initiating primary humoral immune responses and antibody (IgM) synthesis. The spleen commonly enlarges when either its filtration function is increased—as in haemolysis—or it is stimulated by infection or inflammation. It may also be involved in myeloproliferative and lymphoproliferative neoplasias. This chapter covers hypersplenism, splenectomy, hyposplenism, overwhelming post-splenectomy infection (OPSI), and other infections in hyposplenic patients.
Buchteile zum Thema "FISH, LYMPHOMA":
1
Giefing, Maciej, und Reiner Siebert. „FISH and FICTION in Lymphoma Research“. In Methods in Molecular Biology, 249–67. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9151-8_11.
2
Knecht, Hans, und Sabine Mai. „The Use of 3D Telomere FISH for the Characterization of the Nuclear Architecture in EBV-Positive Hodgkin’s Lymphoma“. In Epstein Barr Virus, 93–104. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-6655-4_6.
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Siebert, R., Y. Zhang, R. Matthiesen, K. Weber-Matthiesen und B. Schlegelberger. „Molekularzytogenetische Untersuchungen bei malignen Lymphomen: Neue Erkenntnisse für Biologie, Klassifikation und Klinik durch FISH, FICTION und CGH“. In Maligne Lymphome, 73–88. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60594-9_8.
4
Giefing, Maciej, und Reiner Siebert. „FISH and FICTION to Detect Chromosomal Aberrations in Lymphomas“. In Methods in Molecular Biology, 227–44. Totowa, NJ: Humana Press, 2012. http://dx.doi.org/10.1007/978-1-62703-269-8_13.
5
Loo, Eric Y. „Follicular and Mantle Cell Lymphomas: Technical and Interpretive Considerations; Karyotyping, FISH, Chromosomal Microarray, Sequencing, B Cell Clonality, Minimal Residual Disease“. In Molecular and Translational Medicine, 115–48. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-49741-5_4.
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Bendari, Mounia, Sofia Sraidi und Nisrine Khoubila. „Genetic Abnormalities in ALL“. In Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97429.
Annotation:
Acute lymphoblastic leukemia (ALL), can be defined by a family of genetically heterogeneous lymphoid neoplasms derived from B- and T-lymphoid progenitors. ALL constitutes the most common childhood cancer, due to an overproduction of immature lymphoid hematopoietic cells. Genetic analyzes currently provides important information for classifying patients into prognostic groups, genetic analysis also helps to understand the mechanisms of relapse, pharmacogenetics and the development of new potential therapeutic targets, which should help to further improve the results of leukemia. In fact, the new techniques in molecular cytogenetic permits to identify new cryptic abnormalities, these discoveries have led to the development of new therapeutic protocols. The role of cytogenetic analysis is crucial on ALL patient’s management. Karyotyping coupled with FISH analysis identifies recurrent chromosomal abnormalities in ALL, many of these abnormalities have prognostic and treatment impact. This chapter summarizes chromosomal abnormalities that are common and classify ALL according to the World Health Organization (WHO) classifications (2016 revision). We will present the main genetic modifications recently identified as well as the sequence mutations which have helped in the elucidation of the pathogenesis of ALL.
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Griep, Mark A., und Marjorie L. Mikasen. „First, Do No Harm: (but Before That, Self-Experiment)“. In ReAction! Oxford University Press, 2009. http://dx.doi.org/10.1093/oso/9780195326925.003.0014.
Annotation:
“The physician must . . . have two special objects in view with regard to disease, namely, to do good or to do no harm.” Hippocrates (Of the Epidemics, 400 B.C.E.) (Adams 1891). This phrase from Hippocrates is more often quoted in its shortened version: “First, do no harm.” In the movies, this sentiment lies at the heart of the bioethical dilemmas in the drug discovery and development process. In horror movies, any step in the drug discovery process can go terribly wrong. This reveals public fears about human fallibility, or even malice, subverting even the best protocols. In the dramatic movies, each new drug or medical protocol is one more step into the bright light of a better future. The goal for these noble scientists is to reduce human suffering. The most common first phase of drug discovery for compounds in this book has been the result of happy accidents and ethnobiological ventures. In chapter 5, the properties of LSD and Thorazine were both discovered while searching for other effects, although the discovery of these drugs has not been dramatized cinematically. Ethnobiology entered the picture in chapter 9 in the form of two movies from about 1990. Dr. Dennis Alan in The Serpent and the Rainbow searches for the zombie powder and discovers that it requires both puffer fish toxin and a cultural belief in zombies. Dr. Robert Campbell in Medicine Man searches for botanical pharmaceuticals and finds a cure for lymphoma. An ethical dilemma is presented in that movie with regard to who should benefit from the compound he discovers. Within the movie, we have to believe that no chemist would be able to synthesize the compound called “Mother Nature’s kitchen” and that Campbell is unable to replicate its isolation from the Amazonian flower. When one vial of the compound remains, a local boy gets cancer and Dr. Crane asks who is more important: one boy, or the rest of the world. Later, she chooses the boy. The movie does not give voice to the interesting question of the pharmaceutical company’s compensation to the locals’ discovery of the anticancer extract.