Academic literature on the topic 'T(5,12)(q31,p13) translocation'

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Journal articles on the topic "T(5,12)(q31,p13) translocation"

1

Wlodarska, Iwona, Roberta La Starza, Mathijs Baens, et al. "Fluorescence In Situ Hybridization Characterization of New Translocations Involving TEL (ETV6) in a Wide Spectrum of Hematologic Malignancies." Blood 91, no. 4 (1998): 1399–406. http://dx.doi.org/10.1182/blood.v91.4.1399.

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Abstract The ETV6 (also known as TEL) gene on chromosome 12p13 is the target of a number of translocations associated with various hematologic malignancies. The contribution of ETV6 to leukemogenesis occurs through different mechanisms that involve either its helix-loop-helix dimerization domain or its E26 transformation-specific (ETS) DNA-binding domain. Using fluorescence in situ hybridization we characterized seven newETV6 rearrangements in chronic myeloid leukemia, acute myeloid leukemia, acute lymphoblastic leukemia, and non-Hodgkin's lymphoma. These aberrations, not always discernible at
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2

Wlodarska, Iwona, Anna Aventı́n, Júlia Inglés-Esteve, et al. "A New Subtype of Pre-B Acute Lymphoblastic Leukemia With t(5; 12)(q31q33; p12), Molecularly and Cytogenetically Distinct From t(5; 12) in Chronic Myelomonocytic Leukemia." Blood 89, no. 5 (1997): 1716–22. http://dx.doi.org/10.1182/blood.v89.5.1716.

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Abstract Translocation t(5; 12)(q33; p13), resulting in an ETV6/PDGFRB gene fusion, is a recurrent chromosomal abnormality associated with chronic myelomonocytic leukemia (CMML). An analogous translocation was also found in four cell lines with features of pre-B acute lymphoblastic leukemia (ALL). Using fluorescence in situ hybridization (FISH) we show here that in three of these cell lines identical complex rearrangements occurred. However, the regions involved on 5q and 12p are different from the breakpoints in CMML, and the translocation is accompanied by seemingly identical cryptic deletio
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3

Wlodarska, Iwona, Anna Aventı́n, Júlia Inglés-Esteve, et al. "A New Subtype of Pre-B Acute Lymphoblastic Leukemia With t(5; 12)(q31q33; p12), Molecularly and Cytogenetically Distinct From t(5; 12) in Chronic Myelomonocytic Leukemia." Blood 89, no. 5 (1997): 1716–22. http://dx.doi.org/10.1182/blood.v89.5.1716.1716_1716_1722.

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Translocation t(5; 12)(q33; p13), resulting in an ETV6/PDGFRB gene fusion, is a recurrent chromosomal abnormality associated with chronic myelomonocytic leukemia (CMML). An analogous translocation was also found in four cell lines with features of pre-B acute lymphoblastic leukemia (ALL). Using fluorescence in situ hybridization (FISH) we show here that in three of these cell lines identical complex rearrangements occurred. However, the regions involved on 5q and 12p are different from the breakpoints in CMML, and the translocation is accompanied by seemingly identical cryptic deletions of bot
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4

Penas, Eva Maria Murga, Marianne Klokow, Petra Behrmann, et al. "Incidence of ETV6 Cryptic Translocations In Myeloid Disorders." Blood 116, no. 21 (2010): 2733. http://dx.doi.org/10.1182/blood.v116.21.2733.2733.

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Abstract Abstract 2733 Rearrangements affecting band 12p13 are found as recurring chromosomal changes in myeloid malignancies. The main target of these rearrangements is the ETV6 gene, a member of the ETS family of transcription factors that is required for hematopoiesis within the bone marrow. To date, more than 41 translocations affecting ETV6 have been described, most of them encoding chimeric proteins with oncogenic properties. However, some of the translocations do not produce a functional fusion protein, but may induce ectopic expression of oncogenes located in the neighbourhood of the b
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5

Wlodarska, I., C. Mecucci, P. Marynen, et al. "TEL gene is involved in myelodysplastic syndromes with either the typical t(5;12)(q33;p13) translocation or its variant t(10;12)(q24;p13)." Blood 85, no. 10 (1995): 2848–52. http://dx.doi.org/10.1182/blood.v85.10.2848.bloodjournal85102848.

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A t(5;12)(q33;p13) translocation is a recurrent chromosome abnormality in a subgroup of myeloid malignancies with features of both myeloproliferative disorders and myelodysplastic syndromes (MDSs). The molecular consequence of a t(5;12) is a fusion between the platelet-derived growth factor receptor-B gene on chromosome 5 and a novel ETS-like gene, TEL, on chromosome 12. We report on three patients with a t(5;12)(q33;p13) diagnosed as chronic myelomonocytic leukemia, and one case of a t(10;12)(q24;p13) in a progressive MDS, with eosinophilia and monocytosis. Involvement of the TEL gene in thes
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6

Wlodarska, Iwona, Kim De Keersmaecker, Jan Cools, et al. "Involvement of the NOTCH1 and NOTCH2 Genes in B-Cell Lymphomagenesis." Blood 108, no. 11 (2006): 2072. http://dx.doi.org/10.1182/blood.v108.11.2072.2072.

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Abstract The NOTCH pathway is a key regulator of developmental choices, differentiation and function throughout the hematopoietic system. An aberrant activation of this pathway may underlie leukemogenesis, as shown in T-ALL cases with the rare t(7;9)(q35;q34) targeting NOTCH1 or with mutation(s) of NOTCH1 found in approximately 50% of T-ALL cases. We report here evidence for NOTCH1 and NOTCH2 rearrangements in B-cell lymphoma. Involvement of NOTCH1 was identified by the presence of dic(9;14)(q34;q32) and trisomy 12 in a case of chronic lymphocytic leukemia (CLL) at the time of transformation,
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7

Wlodarska, Iwona, Vera Vanhentenrijk, Helena Pospisilova, et al. "Genetics of t(11;14)(q13;q32)-Negative MCL." Blood 108, no. 11 (2006): 2071. http://dx.doi.org/10.1182/blood.v108.11.2071.2071.

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Abstract Mantle cell lymphoma (MCL) is hallmarked by IGH-mediated t(11;14)(q13;q32) resulting in deregulation of CCND1. This gene encodes cyclin D1 that together with cyclin D2 and -D3, plays a key role in cell cycle progression. Given that cyclin D1 is not expressed by normal B lymphocytes, its aberrant expression in lymphoma has a diagnostic value. Recently, it has been shown that rare cyclin D1-negative MCL cases express either cyclin D2 or cyclin D3. The molecular mechanisms underlying these events are unknown. We report here the genetic characteristics of 12 MCL cases without cytogenetic
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8

Chauffaille, Maria de Lourdes L. F., Ana C. Ameida, Rosana M. Martinez, and Aline S. G. Silva. "Frequency and Diversity of Variant Philadelphia Chromosome In Chronic Myeloid Leukemia Patients." Blood 118, no. 21 (2011): 4903. http://dx.doi.org/10.1182/blood.v118.21.4903.4903.

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Abstract Abstract 4903 The Philadelphia chromosome (Ph), t(9;22), is detected in around 90% of the chronic myeloid leukemia (CML) patients, but in the remaining 5–10% cases a variant type may be present. Variant Ph-chromosome is characterized by the involvement of another chromosome in addition to the 9 and 22. It can be a simple type of variant when one more chromosome is involved, or complex, in which two or more chromosomes take part in the translocation. The aim of this report is to relate the diversity of variants Ph found in CML patients at the Cytogenetic service of Fleury Lab (São Pau
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9

Auger, Sophie, Jean Baptiste Gaillard, Thierry Lavabre-Bertrand, et al. "ETV6-ABL1 CML Like Disorder with Complex Translocation Involving Chromosome 9, 12 and 14." Blood 120, no. 21 (2012): 4438. http://dx.doi.org/10.1182/blood.v120.21.4438.4438.

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Abstract Abstract 4438 A rare group of myeloproliferative disorders has been described associated with gene rearrangements producing novel tyrosine kinases other than BCR/ABL. A rearrangement involving the ETV6 and ABL1 genes, associated with t(9;12)(q34;p13) translocation, has been detected in Ph-negative chronic myeloproliferative disorders and has been demonstrated to have tyrosine kinase activity in signal transduction pathways similar to the BCR/ABL fusion protein. The ETV6 gene is a member of the E26 transformation-specific family (ETS) of transcription factors located at 12p13. It has b
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10

Vynnytska, O., O. Dorosh, L. Dubey, and N. Dubey. "Relationship of genetic deviations with laboratory indicators of peripheral blood and bone marrow in children with acute lymphoblastic leukemia." Bukovinian Medical Herald 25, no. 1(97) (2021): 11–18. http://dx.doi.org/10.24061/2413-0737.xxv.1.97.2021.2.

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The aim of this study was to evaluate the prognostic value of the relationship between genetic abnormalities and clinical and laboratory parameters of peripheral blood and bone marrow in children with acute lymphoblastic leukemia (ALL). Material and methods. 105 children diagnosed with ALL were examined (average age 6 years). To detect chromosomal translocations AF4/MLL t(4; 11) (q23; p23), BCR/ABL t (9; 22) (q34; q11), E2A/PBX1 t (1; 19) (q23; p13) and TEL/AML t(12; 21) (q13; q22) the method of polymerase chain reaction with reverse transcription (RT-PCR) was applicated. PCR was performed wit
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