Journal articles: 'FISH (Fluorescence In Situ Hybridisation)'

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Edwards, A. A. "Editorial - Fluorescence In Situ Hybridisation (FISH)." Radiation Protection Dosimetry 88, no. 1 (March 1, 2000): 5–6. http://dx.doi.org/10.1093/oxfordjournals.rpd.a033019.

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Mudhar, Hardeep Singh, Kath Smith, Polly Talley, Abigail Whitworth, Neil Atkey, and Ian G. Rennie. "Fluorescence in situ hybridisation (FISH) in histologically challenging conjunctival melanocytic lesions." British Journal of Ophthalmology 97, no. 1 (November 8, 2012): 40–46. http://dx.doi.org/10.1136/bjophthalmol-2012-302261.

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Beverstockl, Geoffrey C., Martine de Jager, Ite de Waard-Siebinga, Jeanette Kool, Paul Mollevanger, Hans Wessels, and Ed Hoogendoorn. "Cytogenetic and fluorescence in situ hybridisation (FISH) analysis of ocular melanoma." Cancer Genetics and Cytogenetics 77, no. 2 (October 1994): 182. http://dx.doi.org/10.1016/0165-4608(94)90365-4.

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Harrison, R. H., H. C. Kuo, P. N. Scriven, A. H. Handyside, and C. Mackie Ogilvie. "Lack of cell cycle checkpoints in human cleavage stage embryos revealed by a clonal pattern of chromosomal mosaicism analysed by sequential multicolour FISH." Zygote 8, no. 3 (August 2000): 217–24. http://dx.doi.org/10.1017/s0967199400001015.

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Multicolour fluorescence in situ hybridisation (FISH) analysis of interphase nuclei in cleavage stage human embryos has highlighted a high incidence of postzygotic chromosomal mosaicism, including both aneuploid and ploidy mosaicism. Indeed, some embryos appear to have a chaotic chromosomal complement in a majority of nuclei, suggesting that cell cycle checkpoints may not operate in early cleavage. Most of these studies, however, have only analysed a limited number of chromosomes (3–5), making it difficult to distinguish FISH artefacts from true aneuploidy. We now report analysis of 11 chromosomes in five sequential hybridisations with standard combinations of two or three probes and minimal loss of hybridisation efficiency. Analysis of a series of arrested human embryos revealed a generally consistent pattern of hybridisation on which was superimposed frequent deletion of one or both chromosomes of a specific pair in two or more nuclei indicating a clonal origin and continued cleavage following chromosome loss. With a binucleate cell in a predominantly triploid XXX embryo, the two nuclei remained attached during preparation and the chaotic diploid/triphoid status of every chromosome analysed was the same for each nucleus. Furthermore, in each hybridisation the signals were distributed as a mirror-image about the plane of attachment, indicating premature decondensation during anaphase consistent with a lack of checkpoint control.

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NIEUWINT, A. W. M. "Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears." Journal of Medical Genetics 37, no. 6 (June 1, 2000): 4e—4. http://dx.doi.org/10.1136/jmg.37.6.e4.

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Baldovini, Chiara, Anna L. Tosi, Enrico Di Oto, Camilla Reggiani, Susanna Cappia, Christine M. Betts, Carmine Gallo, Lisa Ricchieri, Roberto Cocchi, and Maria P. Foschini. "Genetic markers of oral malignant melanoma analysed by fluorescence in situ hybridisation (FISH)." Virchows Archiv 459, no. 2 (June 29, 2011): 167–73. http://dx.doi.org/10.1007/s00428-011-1107-9.

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Vuoriranta, P., M. Männistö, and H. Soranummi. "Occurrence of Sphingomonas sp. bacteria in cold climate drinking water supply system biofilms." Water Supply 3, no. 1-2 (March 1, 2003): 227–32. http://dx.doi.org/10.2166/ws.2003.0108.

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Members of the bacterial genus Sphingomonas (recently split into four genera), belonging to α-4-subclass of Proteobacteria, were isolated and characterised from water distribution network biofilms. Water temperature in the studied network, serving 200,000 people, is less than 5°C for about five months every winter. Sphingomonads, characterised using fluorescent oligonucleotide probes and fatty acid composition analysis (FAME), were a major group of bacteria among the distribution network biofilm isolates. Intact biofilms, grown on steel slides in a biofilm reactor fed with tap water, were detected in situ using fluorescence labelled oligonucleotide probes (FISH). Hybridisation with probes targeted on α-proteobacteria and sphingomonads was detected, but FISH on intact biofilms suffered from non-specific hybridisation and intensive autofluorescence, possibly due to extracellular material around the bacterial cells attached to biofilm. These preliminary results indicate that bacteria present in the distribution network biofilms in this study phylogenetically differ from those detected in more temperate regions.

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McNeil, Nicole, and Thomas Ried. "The role of cytokines in immunological tolerance: potential for therapy." Expert Reviews in Molecular Medicine 2, no. 7 (September 14, 2000): 1–14. http://dx.doi.org/10.1017/s1462399400001940.

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Molecular cytogenetic techniques that are based on fluorescence in situ hybridisation (FISH) have become invaluable tools for the diagnosis and identification of the numerous chromosomal aberrations that are associated with neoplastic disease, including both haematological malignancies and solid tumours. FISH can be used to identify chromosomal rearrangements, by detecting specific DNA sequences with fluorescently labelled DNA probes. The technique of comparative genomic hybridisation (CGH) involves two-colour FISH. It can be used to establish ratios of fluorescence intensity values between tumour DNA and control DNA along normal reference metaphase chromosomes, and thereby to detect DNA copy-number changes such as gains and losses of specific chromosomal regions and gene amplifications. Spectral karyotyping (SKY) is a novel molecular cytogenetic method for characterising numerical and structural chromosomal aberrations. SKY involves the simultaneous hybridisation of 24 differentially labelled chromosome-painting probes, followed by spectral imaging and chromosome classification, and produces a colour karyotype of the entire genome. The use of SKY has contributed significantly to the identification of chromosomal anomalies that are associated with constitutional and cancer cytogenetics, and has revealed many aberrations that go undetected by traditional banding techniques. In this article, we have reviewed these new molecular cytogenetic techniques and described their various applications in molecular medicine.

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Chatzimeletiou, Katerina, George Makrydimas, Alexandros Sotiriadis, Evagelos Paraskevaidis, and Kypros H. Nicolaides. "Aneuploidy screening in coelomic samples using fluorescencein situ hybridisation (FISH)." Prenatal Diagnosis 25, no. 10 (2005): 919–26. http://dx.doi.org/10.1002/pd.1227.

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Tafe, Laura J., Heather B. Steinmetz, Samantha F. Allen, Betty J. Dokus, and Gregory J. Tsongalis. "Rapid fluorescence in situ hybridisation (FISH) for HER2 (ERBB2) assessment in breast and gastro-oesophageal cancer." Journal of Clinical Pathology 68, no. 4 (January 9, 2015): 306–8. http://dx.doi.org/10.1136/jclinpath-2014-202787.

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Evaluation of HER2 (ERBB2) gene amplification or protein expression is standard of care in breast (BR) and advanced stage gastro-oesophageal cancers to identify patients eligible for anti-HER2 therapies. Here, we evaluate a rapid fluorescence in situ hybridisation (FISH) technology (HER2 instant quality (IQ) FISH pharmDx Kit) for detection of HER2 in patients with BR and gastro-oesophageal cancer using 30 FFPE samples that had been previously evaluated with the PathVysion HER2 DNA Probe Kit. Cases were scored as positive (HER2:CEN-17 ≥2.0), negative (HER2:CEN-17 <2.0) or equivocal according to the ASCO/CAP 2013 BR cancer guidelines. Ten samples were positive for HER2 amplification while 20 were negative; none were equivocal. The IQ FISH was able to detect low level amplification (HER2:CEN-17 ratio 2.4). The HER2 IQ FISH pharmDx Kit is a FDA approved kit that offers a rapid turnaround time (approximately 3.5 h) and in our laboratory was 100% concordant with prior PathVysion results.

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Schmitt, Eberhard, Jenny Wagner, and Michael Hausmann. "Combinatorial selection of short triplex forming oligonucleotides for fluorescence in situ hybridisation COMBO-FISH." Journal of Computational Science 3, no. 5 (September 2012): 328–34. http://dx.doi.org/10.1016/j.jocs.2011.10.001.

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Matsuura, H., T. Shiraishi, R. Yatani, and J. Kawamura. "Interphase cytogenetics of prostate cancer: fluorescence in situ hybridisation (FISH) analysis of Japanese cases." British Journal of Cancer 74, no. 11 (December 1996): 1699–704. http://dx.doi.org/10.1038/bjc.1996.617.

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Bogdanovska-Todorovska, Magdalena, Slavica Kostadinova-Kunovska, Rubens Jovanovik, Blagica Krsteska, Goran Kondov, Borislav Kondov, and Gordana Petrushevska. "Correlation of Immunohistochemistry and Fluorescence in Situ Hybridization for HER-2 Assessment in Breast Cancer Patients: Single Centre Experience." Open Access Macedonian Journal of Medical Sciences 6, no. 4 (March 22, 2018): 593–99. http://dx.doi.org/10.3889/oamjms.2018.124.

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BACKGROUND: Accurate assessment of HER-2 is imperative in selecting patients for targeted therapy. Most commonly used test methods for HER-2 are immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH). We evaluated the concordance between FISH and IHC for HER-2 in breast cancer samples using Food and Drug Administration approved tests.MATERIAL AND METHODS: Archived paraffin tissue blocks from 73 breast cancer patients were used. HER-2 immunostaining was performed using Ventana anti–HER-2 monoclonal antibody. The FISH assay was performed using PathVysion™ HER-2 DNA Probe Kit.RESULTS: Of the 73 cases 68.5% were IHC 0/1+, 15.07% were IHC 2+ and 16.44% were IHC 3+. Successful hybridisation was achieved in 72 cases. HER-2 FISH amplification was determined in 16.67% cases. Ten IHC 3+ and two IHC 2+ cases were FISH positive. Two of the IHC 3+ cases were FISH negative. Concordance rate was 100%, 18.18% and 83.33% for IHC 0/1+, 2+ and 3+ group, respectively. Total concordance was 84.72%, kappa 0.598 (p < 0.0001). The sensitivity of IHC in detecting IHC 2+ and IHC 3+ cases was 16.7% and 83.3%, and the specificity was 85% and 96.67%, respectively.CONCLUSION: The consistency between the methods was highest for IHC negative and lowest for IHC equivocal cases. The immunohistochemistry showed high sensitivity for IHC 2+/3+ cases and high specificity for IHC 3+ cases. Our results support the view that false-positive rather than false-negative IHC results are a problem with HER-2/IHC testing, and that IHC should be used as an initial screening test, but IHC 2+/ 3+ results should be confirmed by FISH.

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Declerck, P., L. Verelst, L. Duvivier, A. Van Damme, and F. Ollevier. "A detection method for Legionella spp in (cooling) water: fluorescent in situ hybridisation (FISH) on whole bacteria." Water Science and Technology 47, no. 3 (February 1, 2003): 143–46. http://dx.doi.org/10.2166/wst.2003.0184.

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Although traditional culture methods are appropriate for detection of Legionella species, such culture takes several days. Rapid detection (<24 h) of individual Legionella is possible using fluorescent in situ hybridisation (FISH) on whole bacteria. Water samples were filtered and the concentrated bacteria were immediately detected (without culture) with a fluorescence microscope following appropriate labelling. The detection level was very high and quantification was possible. For the detection of all Legionella spp. the probe LEG705 was used, complementary to a 16S rRNA sequence conserved in all Legionella spp. For specific detection of L. pneumophila the probe LEGPNE1 was used. This probe is designed against a variable domain of the 16S rRNA sequence from L. pneumophila. CY3 and FLUOS labels were tested and CY3 showed clearly detectable bacteria with minimum background staining. This FISH technique is very sensitive, fast, reliable and individual bacteria are easily detected.

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Shiroma, Noriyuki, Koji Arihiro, Miyo Oda, and Makoto Orita. "KRAS fluorescence in situ hybridisation testing for the detection and diagnosis of pancreatic adenocarcinoma." Journal of Clinical Pathology 71, no. 10 (April 25, 2018): 865–73. http://dx.doi.org/10.1136/jclinpath-2018-205002.

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AimsThe aim of our study was to analyse correlations between KRAS mutation status, chromosomal changes that affect KRAS status in cells from pancreatic tumours.MethodsWe collected 69 cases of surgically resected pancreatic ductal adenocarcinoma (PDA) and seven cases of chronic pancreatitis (CP). Chromosomal abnormalities of KRAS and CEP12 were detected using fluorescence in situ hybridisation (FISH).ResultsThe number of CEP12 signals per cell ranged from 1.78 to 2.04 and 1.46 to 4.88 in CP and PDA samples, respectively, while the number of KRAS signals per cell ranged from 1.94 to 2.06 and 1.88 to 8.18 in CP and PDA samples, respectively. The ‘chromosomal instability index’, which was defined as the percentage of cells with any chromosomal abnormality, was over 5.7 times greater in PDA than in CP. We performed KRAS mutation analysis by direct sequencing and found that tumours with KRAS mutations have a significantly higher mean KRAS signal per cell from PDA samples compared with tumours with wild-type KRAS. KRAS amplification was noted in 10% of cases. Although we found that lymph node metastasis and distal metastasis of PDA were more frequent in cases with KRAS amplification, this was not correlated with overall survival. Using a threshold of 40%, we found that the chromosomal instability index robustly discriminated PDA cells from CP cells.ConclusionsBased on these findings, we concluded that FISH testing of KRAS using cytology samples may represent an accurate approach for the diagnosis of PDA.

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Zito Marino, Federica, Giulio Rossi, Immacolata Cozzolino, Marco Montella, Mariacarolina Micheli, Giuseppe Bogina, Enrico Munari, Matteo Brunelli, and Renato Franco. "Multiplex fluorescence in situ hybridisation to detect anaplastic lymphoma kinase and ROS proto-oncogene 1 receptor tyrosine kinase rearrangements in lung cancer cytological samples." Journal of Clinical Pathology 73, no. 2 (September 27, 2019): 96–101. http://dx.doi.org/10.1136/jclinpath-2019-206152.

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AimsSeveral predictive biomarkers of response to specific inhibitors have become mandatory for the therapeutic choice in non-small-cell lung cancer (NSCLC). In most lung cancer patients, the biological materials available to morphological and molecular diagnosis are exclusively cytological samples and minimum tumour wastage is necessary. Multiplex fluorescence in situ hybridisation (mFISH) to detect simultaneously ALK-rearrangement and ROS1-rearrangement on a single slide could be useful in clinical practice to save cytological samples for further molecular analysis. In this study, we aim to validate diagnostic performance of multiplex ALK/ROS1 fluorescence in situ hybridisation (FISH) approach in lung adenocarcinoma cytological series compared with classic single break apart probes.MethodsWe collected a series of 61 lung adenocarcinoma cytological specimens enriched in tumours harbouring ALK-rearrangement and ROS1-rearrangement. ALK and ROS1 status were previously assessed by classic FISH test using single break apart probes and immunohistochemistry. Study population was composed of 6 ALK-positive, 2 ROS1-positive and 53 ALK/ROS1-wild type. All specimens were analysed by multiplex FISH assay using FlexISH ALK/ROS1 DistinguISH Probe Zytovision.ResultsThe dual ALK/ROS1 FISH probe test results were fully concordant with the results of previous single ALK and ROS1 FISH tests on two different slides. 6 ALK-positive and 2 ROS1-positive were confirmed through multiplex FISH test, without false-positive and false-negative results. Multiplex ALK/ROS1 FISH test results agreed with immunohistochemistry assay staining results.ConclusionMultiplex ALK/ROS1 FISH probe test is a useful tool to detect simultaneously ALK-rearrangement and ROS1-rearrangement on a single slide in cytological specimens with a small amount of biomaterial.

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Sun, Yi, Guilin Tang, Zhihong Hu, Beenu Thakral, Roberto N. Miranda, L. Jeffrey Medeiros, and Sa A. Wang. "Comparison of karyotyping, TCL1 fluorescence in situ hybridisation and TCL1 immunohistochemistry in T cell prolymphocytic leukaemia." Journal of Clinical Pathology 71, no. 4 (August 18, 2017): 309–15. http://dx.doi.org/10.1136/jclinpath-2017-204616.

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AimsT cell prolymphocytic leukaemia (T-PLL) is defined as an aggressive T cell leukaemia composed of small to medium-sized lymphocytes with a mature T cell immunophenotype. Most of these cases are known to be associated with inv(14q11q32)/t(14;14)(q11;q32) or rarely t(X;14)(q28;q11). However, T-PLL can show variations in clinical presentation, morphology or immunophenotype that can make a diagnosis of T-PLL challenging. We aim to explore the value of ancillary testing in the diagnosis of T-PLL.MethodsWith this large cohort of 69 patients with T-PLL, we compared the diagnostic utility of conventional cytogenetics, TCL1 rearrangement by fluorescence in situ hybridisation (FISH) and TCL1 expression by immunohistochemistry (IHC).ResultsConventional karyotyping was performed in all 69 patients and was abnormal in 44 (65%), showing 14q32 abnormalities in 31 (43%) and t(X;14) (MTCP) in 2 (3%). TCL1 rearrangement was assessed by FISH in 26 cases and was positive in 23 (85%). All cases with 14q32 abnormalities shown by karyotype were positive for TCL1 rearrangement by FISH, whereas 12/15 (80%) cases without 14q32 abnormalities were also positive. TCL1 overexpression by IHC was detected in 51/64 (81%), including 40/42 (95%) cases with TCL1/14q32 rearrangement, and 3 cases without, showing a concordance of 89%. TCL1 IHC was negative in both cases with t(X;14)(q28;q11).ConclusionsOur study shows that TCL1 by IHC is a convenient test, positive in >80% T-PLL. Conventional cytogenetics is insensitive in the detection of 14q32/TCL1 rearrangements but provides more complete information of the chromosomal landscape of T-PLL. FISH for TCL1 rearrangement is very valuable in diagnostic challenging cases.

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Pressl, S. "Chromosome translocations detected by fluorescence in situ hybridisation (FISH)-a useful tool in population monitoring?" Toxicology Letters 96-97, no. 1-2 (August 1, 1998): 189–94. http://dx.doi.org/10.1016/s0378-4274(98)00068-x.

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Akkad, T., A. Brunner, I. Verdorfer, T. Mueller, C. Gozzi, G. Bartsch, and H. Steiner. "FLUORESCENCE IN-SITU HYBRIDISATION (FISH) FOR DIAGNOSIS OF UPPER URINARY TRACT TUMOURS - A PILOT STUDY." European Urology Supplements 5, no. 2 (April 2006): 252. http://dx.doi.org/10.1016/s1569-9056(06)60924-x.

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Gescher, Dorothee Maria, Dragoljub Kovacevic, Dinah Schmiedel, Steffi Siemoneit, Christian Mallmann, Elke Halle, Ulf B. Göbel, and Annette Moter. "Fluorescence in situ hybridisation (FISH) accelerates identification of Gram-positive cocci in positive blood cultures." International Journal of Antimicrobial Agents 32 (November 2008): S51—S59. http://dx.doi.org/10.1016/j.ijantimicag.2008.06.007.

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Bugno, Monika, Ewa Słota, Aldona Pieńkowska-Schelling, and C. Schelling. "Detection of equine X chromosome mosaicism in a mare using an equine X whole chromosome painting probe (WCPP) — A case report." Acta Veterinaria Hungarica 55, no. 2 (June 1, 2007): 207–12. http://dx.doi.org/10.1556/avet.55.2007.2.6.

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An infertile mare with hypoplastic ovaries was subjected to cytogenetic analysis. Fluorescence in situ hybridisation (FISH) using the equine X whole chromosome painting probe (WCPP) was carried out on a chromosome preparation obtained from blood lymphocyte culture. The number of analysed spreads was high (235) and in the X chromosome aneuploidy in mosaic form was diagnosed. The karyotype formula was 63,X / 64,XX / 65,XXX. The ratio of the three lines was 15%, 82% and 3%, respectively. The application of the FISH technique with WCPP is discussed.

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Walters, Matthew P., Ellen D. McPhail, Mark E. Law, and Andrew L. Folpe. "BCL-6 expression in mesenchymal tumours: an immunohistochemical and fluorescence in situ hybridisation study." Journal of Clinical Pathology 64, no. 10 (July 1, 2011): 866–69. http://dx.doi.org/10.1136/jclinpath-2011-200185.

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The BCL-6 proto-oncogene encodes a transcriptional repressor protein. Among normal tissues, BCL-6 expression is confined to germinal center B-cells and a subpopulation of T-helper cells. Little is known about BCL-6 expression in mesenchymal tissues. We examined a series of solitary fibrous tumor (SFT) and other mesenchymal tumors for BCL-6 expression. Immunohistochemistry for BCL-6 was performed on 64 mesenchymal tumors [26 SFT (19 benign/uncertain, 7 malignant), 6 synovial sarcomas (SS), 5 gastrointestinal stromal tumors (GIST), 5 malignant peripheral nerve sheath tumors (MPNST), 5 leiomyosarcomas (LMS), 9 leiomyomas (LM) 4 desmoid tumors (DT), 4 perineuriomas (PN)]. Nuclear immunoreactivity was considered positive. Six BCL-6 positive SFT were also tested for BCL-6 gene rearrangement/amplification by FISH. Nuclear expression of BCL-6 was seen in 13/26 SFT, 5/5 LMS, 1/9 LM, 5/6 SS, 1/5 GIST, 1/5 MPNST, 1/4 PN, and 0/5 DT. BCL-6 expression was significantly more frequent in malignant (6/7) as compared with benign/uncertain SFT (6/19) (p=0.02) and in LMS (5/5) as compared with LM (1/9) (p=0.003). FISH for BCL-6 rearrangement/amplification was negative in all tested cases. We have observed BCL-6 expression in 50% or more of SFT, SS, and LMS, and in a lesser percentage of LM, GIST, MPNST and PN. Significantly more frequent expression of BCL-6 in malignant compared with benign/uncertain SFT and in LMS compared with LM suggests abnormalities in the BCL-6 signaling pathway may contribute to malignant transformation in at least some mesenchymal tumors. It is unlikely that BCL-6 expression in mesenchymal tumors is due to BCL-6 gene amplification or rearrangement. amplification or rearrangement.

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Robinson, T. J., V. Trifonov, I. Espie, and E. H. Harley. "Interspecific hybridisation in rhinoceroses: Confirmation of a Black � White rhinoceros hybrid by karyotype, fluorescence in situ hybridisation (FISH) and microsatellite analysis." Conservation Genetics 6, no. 1 (January 2005): 141–45. http://dx.doi.org/10.1007/s10592-004-7750-9.

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Lim, Ki-Byung, Jannie Wennekes, J. Hans de Jong, Evert Jacobsen, and Jaap M. van Tuyl. "Karyotype analysis of Lilium longiflorum and Lilium rubellum by chromosome banding and fluorescence in situ hybridisation." Genome 44, no. 5 (October 1, 2001): 911–18. http://dx.doi.org/10.1139/g01-066.

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Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were obtained with the standard BSG technique revealed only few minor bands on heterologous positions of the L. longiflorum and L. rubellum chromosomes. FISH of the 5S and 45S rDNA probes on L. longiflorum metaphase complements showed overlapping signals at proximal positions of the short arms of chromosomes 4 and 7, a single 5S rDNA signal on the secondary constriction of chromosome 3, and one 45S rDNA signal adjacent to the 5S rDNA signal on the subdistal part of the long arm of chromosome 3. In L. rubellum, we observed co-localisation of the 5S and 45S rDNA sequences on the short arm of chromosomes 2 and 4 and on the long arms of chromosomes 2 and 3, and two adjacent bands on chromosome 12. Silver staining (Ag-NOR) of the nucleoli and NORs in L. longiflorum and L. rubellum yielded a highly variable number of signals in interphase nuclei and only a few faint silver deposits on the NORs of mitotic metaphase chromosomes. In preparations stained with PI and DAPI, we observed both red- and blue-fluorescing bands at different positions on the L. longiflorum and L. rubellum chromosomes. The red-fluorescing or so-called reverse PI-DAPI bands always coincided with rDNA sites, whereas the blue-fluorescing DAPI bands corresponded to C-bands. Based on these techniques, we could identify most of chromosomes of the L. longiflorum and L. rubellum karyotypes.Key words: fluorescence in situ hybridisation, FISH, 5S rDNA, 45S rDNA, C-banding, reverse PI-DAPI banding.

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Neat, Michael J., Mufaddal T. Moonim, Robert G. Dunn, Helen Geoghegan, and Nicola J. Foot. "Fluorescence in situ hybridisation analysis of bone marrow trephine biopsy specimens; an additional tool in the diagnostic armoury." Journal of Clinical Pathology 66, no. 1 (October 4, 2012): 54–57. http://dx.doi.org/10.1136/jclinpath-2012-201131.

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Fluorescence in situ hybridisation (FISH) analysis is now widely employed in the diagnosis and risk stratification of a wide range of malignant diseases. While this technique is used successfully with formalin-fixed paraffin-embedded (FFPE) sections from numerous tissue types, FISH analysis of FFPE tissue sections from trephine biopsy specimens has been less widely reported, possibly due to technical limitations relating to the decalcification protocols employed. During the last 4 years FISH analysis has been carried out successfully in 42 out of 55 (76%) consecutive trephine biopsy specimens received as part of the standard diagnostic service at our institution. Samples decalcified using EDTA-based protocols were analysed successfully in 31/31 cases (100%), whereas only 11/24 samples (46%) decalcified using formic acid-based protocols were successful. In our experience, FISH analysis of trephine biopsy specimens is a highly reproducible technique and a very useful adjunctive tool in the diagnostic armoury; however, its use in a standard diagnostic setting relies on the use of EDTA-based decalcification protocols.

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Kokubugata, G., K. Kondo, G. W. Wilson, L. M. Randall, A. van der Schans, and D. K. Morris. "Comparison of karyotype and rDNA-distribution in somatic chromosomes of Bowenia species (Stangeriaceae, Cycadales)." Australian Systematic Botany 13, no. 1 (2000): 15. http://dx.doi.org/10.1071/sb98028.

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Somatic chromosomes at mitotic metaphase of Bowenia serrulata, B. spectabilis and B. sp. ‘Tinaroo’ is investigated by the standard aceto-orcein staining method and the fluorescent in situ hybridisation method (FISH) with ribosomal DNA (rDNA) probe. Bowenia serrulata, B. spectabilis and B. sp. ‘Tinaroo’ each have a chromosome number of 2n = 18. The karyotype of B. serrulata exhibits 10 median-centromeric chromosomes, while B. spectabilis and B. sp. ‘Tinaroo’ exhibit eight median-centromeric chromosomes. By using FISH, B. serrulata, B. spectabilis and B. sp. ‘Tinaroo’ show a hybridisation signal on the satellite of the short arm of two submedian-centromeric chromosomes. However, the other hybridisation signal pattern is different among B. serrulata, B. spectabilis and B. sp. ‘Tinaroo’.

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Martin, Renée H., Brenda McInnes, and A. W. Rademaker. "Analysis of aneuploidy for chromosomes 13, 21, X and Y by multicolour fluorescence in situ hybridisation (FISH) in a 47,XYY male." Zygote 7, no. 2 (May 1999): 131–34. http://dx.doi.org/10.1017/s0967199499000489.

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The frequency of aneuploid sperm was assessed by fluorescence in situ hybridisation (FISH) in a 47,XYY male previously studied by sperm karyotyping. A total of 20 021 sperm were studied: 10 017 by two-colour FISH for chromosomes 13 and 21 and 10 002 by three-colour FISH for the sex chromosomes using chromosome 1 as an autosomal control for diploidy and lack of hybridisation. Results were compared with more than 500 000 sperm from 18 normal men. The frequencies of X-bearing (49.4%) and Y-bearing sperm (49.8%) were not significantly different from 50% as shown in our sperm karyotyping study. There was no significant increase in the frequency of diploid sperm compared with control donors. There was a significant increase in the frequency of disomy for chromosome 13 (p<0.0001) and XY disomy (p=0.0008) compared with control donors. However, since the frequency of disomy was 0.40% for chromosome 13 and 0.55% for XY disomy, it is not surprising that these increases were not discovered previously in our analysis of 75 sperm karyotypes. Our results suggest that the extra Y chromosome is eliminated during spermatogenesis in the majority of cells but that there may be a small but significant increase in the frequency of aneuploid sperm in these men.

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Schneider, A., I. Molnár, and M. Molnár-Láng. "Production and fish identification of wheat- Aegilops biuncialis addition lines and their use for the selection of U and M genome-specific molecular (SSR) markers." Acta Agronomica Hungarica 58, no. 2 (June 1, 2010): 151–58. http://dx.doi.org/10.1556/aagr.58.2010.2.6.

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One way of incorporating useful traits from Aegilops biuncialis (2n=4x=28, U b U b M b M b ) into wheat ( Triticum aestivum L. 2n=6x=42, AABBDD) is to develop first addition then translocation lines. The 2M b , 3M b , 7M b , 3U b , 5U b and 5U b /6U b wheat- Ae. biuncialis addition lines were produced in Martonvásár. To facilitate the exact identification of the addition lines, it was necessary to analyse the fluorescence in situ hybridisation patterns of the parental wheat genotype, Ae. biuncialis and its diploid progenitors ( Ae. umbellulata 2n=2x=14, UU and Ae. comosa 2n=2x=14, MM). The great genetic variability of the Aegilops species causes polymorphism in the fluorescence in situ hybridisation (FISH) patterns of the individual chromosomes. Due to the high level of FISH polymorphism, it is advisable to confirm the identification of the Ae. biuncialis chromosomes with the help of molecular (microsatellite, SSR) markers, so 119 wheat SSR markers were tested on Aegilops biuncialis , on Ae. geniculata (2n=4x=28, U g U g M g M g ), on five wheat- Ae. biuncialis addition lines (2M b , 3M b , 7M b , 3U b , 5U b ) and on an addition series of wheat- Ae. geniculata in order to select SSR markers specific to the U and M genomes of Ae. biuncialis and Ae. geniculata .

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Lodde, Michele, and Christine Mian. "Clinical Use of the ImmunoCyt/uCyt+ and Fluorescence in Situ Hybridisation (FISH) Tests for Urothelial Carcinomas." Urologia Journal 80, no. 2 (January 7, 2013): 99–104. http://dx.doi.org/10.5301/ru.2013.11286.

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Tan, W. P., W. K. Tan, C. J. Ng, and H. M. Tan. "Fluorescence in-situ hybridisation (FISH) – is it useful for detecting urothelial cancer in at risk patients?" Journal of Men's Health 8, no. 3 (October 2011): 213–14. http://dx.doi.org/10.1016/j.jomh.2011.08.022.

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Witcomb, Luci A., Laura E. Green, Leo A. Calvo-Bado, Claire L. Russell, Edward M. Smith, Rose Grogono-Thomas, and Elizabeth M. H. Wellington. "First study of pathogen load and localisation of ovine footrot using fluorescence in situ hybridisation (FISH)." Veterinary Microbiology 176, no. 3-4 (April 2015): 321–27. http://dx.doi.org/10.1016/j.vetmic.2015.01.022.

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Krige, Anna-Sheree, R. C. Andrew Thompson, Anke Seidlitz, Sarah Keatley, Adriana Botero, and Peta L. Clode. "‘Hook, line, and sinker’: Fluorescence in situ hybridisation (FISH) uncovers Trypanosoma noyesi in Australian questing ticks." Ticks and Tick-borne Diseases 12, no. 1 (January 2021): 101596. http://dx.doi.org/10.1016/j.ttbdis.2020.101596.

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Lim, T. H., S. T. A. Lim, Y. S. Y. Yeap, Y. J. Ng, C. H. What, K. K. J. Ho, S. L. Tien, and S. Selvarajan. "Clinical utility of the TFE3 break-apart fluorescence in situ hybridisation (FISH) assay in malignant tumours." Pathology 52 (February 2020): S86. http://dx.doi.org/10.1016/j.pathol.2020.01.289.

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Fiegl, M., A. Massoner, M. Haun, W. Sturm, H. Kaufmann, R. Hack, J. Krugmann, M. Fritzer-Szekeres, K. Grünewald, and G. Gastl. "Sensitive detection of tumour cells in effusions by combining cytology and fluorescence in situ hybridisation (FISH)." British Journal of Cancer 91, no. 3 (June 29, 2004): 558–63. http://dx.doi.org/10.1038/sj.bjc.6601942.

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Takeda, Maiko, Takahiko Kasai, Yasunori Enomoto, Masato Takano, Kohei Morita, Tokiko Nakai, Norishige Iizuka, Hiroshi Maruyama, and Chiho Ohbayashi. "Comparison of genomic abnormality in malignant mesothelioma by the site of origin." Journal of Clinical Pathology 67, no. 12 (September 12, 2014): 1038–43. http://dx.doi.org/10.1136/jclinpath-2014-202465.

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AimsMalignant mesothelioma (MM) results from the accumulation of a number of acquired genetic events at the onset. In MM, the most frequent changes are losses in 9p21, 1p36, 22q12 and 14q32, and gains in 5p, 7p and 8q24 by comparative genomic hybridisation analysis. We have examined various genomic losses and gains in MM and benign mesothelial proliferation by fluorescence in situ hybridisation (FISH) analysis. 9p21 deletion was reported to be less frequent in peritoneal than in pleural MMs. This study analysed various genomic losses and gains in MM by the site of origin using FISH analysis.Materials and methodsWe performed FISH analysis using paraffin-embedded tissues from 54 cases (40 pleural and 14 peritoneal) of MMs and compared the frequency of genomic abnormality by the site of origin.Results9p21 deletion was shown in 34 of 40 cases (85%) of pleural MMs, and was less frequent in five of 14 cases (36%) of peritoneal MMs (p<0.001) by FISH analysis. By contrast, 5p15 and 7p12 amplification was more significantly frequent in peritoneal than in pleural MMs. No difference between the two sites of MM in other genes was found.Conclusions9p21 homozygous deletion assessed by FISH has been reported to be useful for differentiating MM from reactive mesothelial proliferation, but it should be noted that 9p21 deletion was less frequent in peritoneal MM. Our study suggests that the pathway of the genetic abnormality might vary between pleural and peritoneal MM.

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Collins, G., T. Mahony, A. M. Enright, A. Gieseke, D. de Beer, and V. O'Flaherty. "Determination and localisation of in situ substrate uptake by anaerobic wastewater treatment granular biofilms." Water Science and Technology 55, no. 8-9 (April 1, 2007): 369–76. http://dx.doi.org/10.2166/wst.2007.279.

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Radiotracer incubation experiments and beta microimaging, along with fluorescent in situ hybridisation (FISH), are proposed as a complementary approach to specific methanogenic activity testing and measurement of in vitro substrate utilisation rates to understand better the ecophysiology of anaerobic granular biofilms from wastewater treatment reactors.

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Sáez, A., F. J. Andreu, M. A. Seguí, M. L. Baré, S. Fernández, C. Dinarés, and M. Rey. "HER-2 gene amplification by chromogenic in situ hybridisation (CISH) compared with fluorescence in situ hybridisation (FISH) in breast cancer—A study of two hundred cases." Breast 15, no. 4 (August 2006): 519–27. http://dx.doi.org/10.1016/j.breast.2005.09.008.

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Schwab, Claire, Deniz Bakkalci, Brenda Gibson, and Christine Harrison. "Fluorescence in Situ Hybridisation (FISH) Detection of Prognostically Relevant Chromosomal Abnormalities in Childhood Acute Myeloid Leukaemia (AML)." Blood 128, no. 22 (December 2, 2016): 2897. http://dx.doi.org/10.1182/blood.v128.22.2897.2897.

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Abstract Cytogenetics is important in diagnosis of acute myeloid leukaemia (AML) and a number of chromosomal abnormalities have prognostic significance. AML clinical trials use three prognostic cytogenetic groups: good, intermediate and poor risk, for risk stratification of newly diagnosed patients to the most appropriate treatment arm. Many AML studies have combined data from children and adults, although the biology of their disease and treatment responses differ. For example, chromosomal abnormalities are observed in 80% of childhood AML, compared to only 50% of adults. The recent opening of the International Randomised Phase III Clinical Trial in Children with Acute Myeloid Leukaemia, MyeChild01, required extensive review of existing and novel genetic risk factors for stratification of patients in this study. The final consensus was to include the following abnormalities: Good risk; t(8;21)(q22;q22)/RUNX1-RUNX1T1 (approximate expected incidence in childhood AML, 12%), inv(16)(p13q22)/CBFB-MYH11 (6%); Poor Risk: inv(3)(q21q26)/t(3;3)(q21;q26)/abnormalities of 3q/MECOM rearrangements (~1%), monosomy 5/deletion of the long arm of chromosome 5 (5q) (~1%), monosomy 7 (4%), t(6;9)(p23;q34)/DEK-NUP214 (~1%), t(9;22)(q34;q11)/BCR-ABL1 (~1%), t(6;11)(q27;q23)/MLL-MLLT4/t(4;11)(q21;q23)/MLL-AFF1/t(10;11)(p11-p14;q23)/MLL-MLLT10 (5%), t(5;11)(q35;p15.5)/NUP98-NSD1(<5%),abnormalities of the short arm of chromosome 12 (12p) (~4%), inv(16)(p13.3q24.3)/CBFA2T3-GLIS2 (<2%); Intermediate risk; t(9;11)(p21;q23)/MLL-MLLT3/t(11;19)(q23;p13.3)/MLL-MLLT1/other MLL rearrangements (11%) and all other cases (25%). A pilot study was performed to evaluate the role of FISH in accurate detection of these abnormalities using a retrospective cohort of 158 paediatric AML patients. Patients were initially classified according to available karyotype, as t(8;21)(q22;q22) (n=15, 9%), inv(16)(p13q22) (n=12, 8%), t(15;17)(q24;q21) (n=8, 5%, although these patients are excluded from MyeChild01), monosomy 7/abnormalities of long arm of chromosome 7 (7q) (n=13, 8%), chromosome 5 abnormalities (n=3, 2%), t(9;22)(q34:q11) (n=1, 0.6%) and MLL rearrangements (n=49, 31%). Those patients with normal karyotype and other abnormalities were grouped together as other (n=57, 36%). They were analysed using a range of specific FISH probes, either commercially available from CytoCell or Kreatech or home grown, for the abnormalities listed above. No additional patients were identified with RUNX1-RUNX1T1, PML-RARα, CBFβ-MYH11 or BCR-ABL1, although copy number changes involving the chromosomal regions covered by these probes were indicated. No patients were found with the poor risk abnormality, inv(16)(p13.3q24.3)/CBFA2T3-GLIS2, likely due to its rarity.However, a number of previously undetected abnormalities were identified: MLL rearrangement, with poor risk translocations excluded (n=2), MLL-MLLT3 (n=1), 12p abnormalities (n=6), NUP98-NSD1 (n=3), DEK-NUP214 (n=1) and MECOM rearrangement (n=1). These latter 11 patients, accounting for 19 % of the other group, originally classified as intermediate risk became re-classified as poor risk following FISH screening. Cytogenetics is important to identify those significant chromosomal abnormalities involved in paediatric AML, which are used to stratify patients for treatment. FISH enables accurate detection of rare cryptic abnormalities associated with poor risk, meaning that more patients can benefit from appropriate risk stratification. Thus we are confident that FISH provides a reliable detection method to be implemented in MyeChild01, alongside screening for those mutations of prognostic relevance: NPM1, CEBPA and FLT3-ITD. Disclosures No relevant conflicts of interest to declare.

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Lin, Ching-Hung, Jacqueline M. Liu, Yen-Shen Lu, Chieh Lan, Wei-Chung Lee, Kuan-Ting Kuo, Chung-Chieh Wang, Dwan-Ying Chang, Chiun-Sheng Huang, and Ann-Lii Cheng. "Clinical significance of ESR1 gene copy number changes in breast cancer as measured by fluorescence in situ hybridisation." Journal of Clinical Pathology 66, no. 2 (December 25, 2012): 140–45. http://dx.doi.org/10.1136/jclinpath-2012-200929.

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AimsThe ESR1 gene encodes for oestrogen receptor (ER) α, which plays a crucial role in mammary carcinogenesis and clinical outcome in patients with breast cancer. However, the clinical significance of the ESR1 gene copy number change for breast cancer has not been clarified.MethodsESR1 gene copy number was determined by fluorescence in situ hybridisation (FISH) on tissue sections. A minimum of 20 tumour cells were counted per section, and a FISH ratio of ESR1 gene to CEP6 ≥2.0 was considered ESR1 amplification. A ratio >1.2 but <2.0 was considered ESR1 gain. The ESR1 copy number was further measured by quantitative real-time PCR (Q-PCR) with ASXL2 as a reference.ResultsFISH revealed ESR1 amplification in six cases (4.0%) and ESR1 gain in 13 cases (8.7%) from a total of 150 cases. ESR1 gain and amplification were more common in older patients (p<0.001), and correlated well with ER protein expression (p=0.03) measured by immunohistochemistry, and ESR1 copy number (p<0.001) measured by Q-PCR. Furthermore, the multivariate analysis revealed that ESR1 amplification was associated with a shorter disease-free survival (HR=5.56, p=0.03) and a shorter overall survival (HR=5.11, p=0.04).ConclusionsIn general, the frequency of ESR1 amplification in breast cancer is low when measured by FISH in large sections. ESR1 gain and amplification in breast cancer may be associated with older age and poorer outcomes.

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Ghaoui, Racha El-Hajj, Dorothy Hung, and Bhavna Padhye. "Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia." OBM Genetics 3, no. 2 (December 24, 2018): 1. http://dx.doi.org/10.21926/obm.genet.1902073.

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Bennett, Samuel, Maya Latimer, Fiona Webb, and Tasfia Khan. "Pilot study of the feasibility of fluorescence in SITU hybridisation (FISH) analysis on bone marrow trephine imprints." Pathology 47 (2015): S88—S89. http://dx.doi.org/10.1097/01.pat.0000461580.58770.91.

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Coluccia, Elisabetta, Federica Deidda, Cinzia Lobina, Riccardo Melis, Cristina Porcu, Blondine Agus, and Susanna Salvadori. "Chromosome Mapping of 5S Ribosomal Genes in Indo-Pacific and Atlantic Muraenidae: Comparative Analysis by Dual Colour Fluorescence In Situ Hybridisation." Genes 11, no. 11 (November 6, 2020): 1319. http://dx.doi.org/10.3390/genes11111319.

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The Muraenidae is one of the largest and most complex anguilliform families. Despite their abundance and important ecological roles, morays are little studied, especially cytogenetically, and both their phylogenetic relationships and the taxonomy of their genera are controversial. With the aim of extending the karyology of this fish group, the chromosomal mapping of the 5S ribosomal gene family was performed on seven species belonging to the genera Muraena and Gymnothorax from both the Atlantic and Pacific oceans. Fluorescence in situ hybridisation (FISH) experiments were realized using species-specific 5S rDNA probes; in addition, two-colour FISH was performed to investigate the possible association with the 45S ribosomal gene family. Multiple 5S rDNA clusters, located either in species-specific or in possibly homoeologous chromosomes, were found. Either a syntenic or different chromosomal location of the two ribosomal genes was detected. Our results revealed variability in the number and location of 5S rDNA clusters and confirmed a substantial conservation of the number and location of the 45S rDNA.

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43

Schneider, A., and M. Molnár-Láng. "Detection of various U and M chromosomes in wheat-Aegilops biuncialis hybrids and derivatives using fluorescence in situ hybridisation and molecular markers." Czech Journal of Genetics and Plant Breeding 48, No. 4 (October 31, 2012): 169–77. http://dx.doi.org/10.17221/45/2012-cjgpb.

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The aim of the study was to select wheat-Aegilops biuncialis addition lines carrying Aegilops biuncialis chromosomes differing from those which were introgressed into the wheat-Ae. biuncialis addition lines produced earlier in Martonvásár, Hungary. In the course of the experiments new wheat-Ae. biuncialis addition lines carrying chromosomes 2Ub, 6Mb, 6Ub; 5Ub, 3Ub, 7Ub; 5Mb, 6Mb and 7Mb were selected. The 2Ub disomic addition line is relatively stable, as 91% of the progenies contain this chromosome pair. The 6Mb disomic addition line proved to be dwarf and sterile, but it still exists as a monosomic addition line. Progenies analysed from the 6Ub monosomic addition line did not carry the 6Ub chromosome. One plant containing the 5Ub, 3Ub and 7Ub chromosomes and one plant carrying 5Mb, 6Mb and 7Mb chromosomes showed very low fertility. Each of the plants produced a single seed, but seeds of the parent plants are still available. Line No. 49/00 carried a submetacentric Ae. biuncialis chromosome pair and the chromosome number 44 has been constant for several generations. After FISH no hybridisation site was observed on the Ae. biuncialis chromosome pair using the pSc119.2 and Afa family repetitive DNA probes, so it was not possible to identify the Ae. biuncialis chromosome pair. However, the use of wheat SSR markers and the (GAA)n microsatellite DNA probe allowed it to be characterised more accurately. These new lines facilitate gene transfer from Ae. biuncialis into cultivated wheat and the selection of U and M genome-specific wheat SSR markers.

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Chen, Ni, Ling Nie, Jing Gong, Xueqin Chen, Miao Xu, Min Chen, and Qiao Zhou. "Gains of chromosomes 7 and 17 in tubulocystic carcinoma of kidney: two cases with fluorescence in situ hybridisation analysis." Journal of Clinical Pathology 67, no. 11 (July 11, 2014): 1006–9. http://dx.doi.org/10.1136/jclinpath-2014-202363.

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Tubulocystic carcinoma (TCC) is a very rare renal tumour with unique gross and microscopic features, alternatively considered as low-grade collecting duct carcinoma. Recent studies favoured distinction of TCC from collecting duct carcinoma, and some cases of TCC synchronously coexisting with other renal cell tumour subtypes were described. We report here two new cases of pure (case 1) or mixed (case 2) TCC with fluorescence in situ hybridisation (FISH) analysis, which showed gains of chromosomes 7 and 17 in the pure TCC of case 1, as well as in the TCC and the papillary renal cell carcinoma (PRCC) components in case 2. These data may further support the notion that TCC is more closely related to PRCC.

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von Laffert, M., P. Schirmacher, A. Warth, W. Weichert, R. Büttner, R. M. Huber, J. Wolf, F. Griesinger, M. Dietel, and Ch Grohé. "ALK-Testing in non-small cell lung cancer (NSCLC): Immunohistochemistry (IHC) and/or fluorescence in-situ Hybridisation (FISH)?" Lung Cancer 103 (January 2017): 1–5. http://dx.doi.org/10.1016/j.lungcan.2016.11.008.

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Hakenberg, O., U. Schmidt, N. Berdjis, A. Meye, F. Wawroschek, A. Baldauf, S. Zastrow, and M. Wirth. "COMPARISON OF URINARY CYTOLOGY AND FLUORESCENCE-IN-SITU HYBRIDISATION ASSAY (FISH) FOR THE DETECTION OF UROTHELIAL BLADDER CARCINOMA." European Urology Supplements 5, no. 2 (April 2006): 138. http://dx.doi.org/10.1016/s1569-9056(06)60468-5.

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Crocetti, Gregory, Marika Murto, and Lovisa Björnsson. "An update and optimisation of oligonucleotide probes targeting methanogenic Archaea for use in fluorescence in situ hybridisation (FISH)." Journal of Microbiological Methods 65, no. 1 (April 2006): 194–201. http://dx.doi.org/10.1016/j.mimet.2005.07.007.

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Bernasconi, Paolo, Irene Dambruoso, Marina Boni, Paola Maria Cavigliano, Ilaria Giardini, Rita Zappatore, Silvia Calatroni, et al. "Fluorescence In Situ Hybridisation (FISH) To Reveal Isochromosome 7q, i(7)(q10), in Hepatosplenic T-Cell Lymphoma (HSTCL)." Blood 108, no. 11 (November 16, 2006): 4606. http://dx.doi.org/10.1182/blood.v108.11.4606.4606.

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Abstract We report two HSTCL patients who were studied with conventional cytogenetics (CC) and FISH on clinical diagnosis and during the follow-up to better understand the genetic events underlying this type of lymphoma. They were a 21-year old male and a 44-year old woman who came to our clinic for evaluation because of B-symptoms. On physical examination they presented massive splenomegaly and hepatomegaly. A peripheral blood count revealed anemia and thrombocytopenia in one patient and anemia in the other. They both presented high lactic dehydrogenase levels. A bone marrow biopsy demonstrated that a malignant T-cell population constituted 30% of all marrow cells in one patient and entirely substituted normal hemopoiesis in the other. This malignant T-cell population was CD2+,CD3+,CD7+,CD56+,CD4−,CD5−,CD8−. In addition, the T-cell clone, which showed a sinusal localization, was TCRα/β + in one case and TCRγ/δ + in the other. The two patients underwent splenectomy and it was shown that the red pulp had been completely infiltrated by a malignant cell population identical to that present in the marrow of the two patients. Therefore, a diagnosis of α/β + and γ/δ+ HSTCL in stage IVB was made and the patients started treatment. The male succeeded in entering a complete remission (CR) of only three month duration and after a bone marrow relapse was unable to achieve a second CR. The female did not respond to chemotherapy and died of disease related complications. CC and FISH studies were performed on bone marrow cells. CC discovered a normal chromosome pattern in the twenty metaphases obtained from the first patient, and an abnormal pattern in the eighteen mitotic cells obtained from the second whose karyotype was: 46,XX[7]/46,XX,i(7)(q10)[5]/47,XX,i(7)(q10),+i(7)(q10)[6]. FISH on mitotic and interphase cells was performed with the 7q31/CEP11 probe (Vysis) and the Bacterial Artificial Chromosome (BAC) probes RP11-79N1, RP11-299F5, RP11-1132K14, RP11-163M21 (kindly provided by the Wellcome Trust Sanger Institute, Cambridge UK and by the BACPAC Resources Children’s Hospital, Oakland, USA), which were localized on 7p15 and covered the HOXA cluster. The commercial probes were applied according to manufacturer’s guidelines. Hybridization procedures were carried out first with the BAC probes and subsequently with the commercial probes. On clinical diagnosis a significant cell population with the aberrant pattern (1×7p/2×7cen/3×7q) corresponding to i(7)(q10) was discovered in 25% of marrow cells from the first patient and in 90% marrow cells from the second. Interestingly, in the first patient the percentage of cells displaying this pattern equalled the percentage of cells infiltrating the marrow on morphologic examination. However, when this patient relapsed we did not succeed in identifying any cell carrying the 1×7p/2×7cen/3×7q pattern (cut-off fixed at 2%), even if the percentage of malignant T-cells infiltrating the marrow was higher than on diagnosis. In addition, CC revealed an absolutely normal chromosome pattern leading us to hypothesize that a cryptic genetic event might have occurred. In conclusion, our findings further underscore the association between i(7)(q10) and HSTCL, suggest that the number of i(7)(q10) present in the malignant cell might reduce response to treatment, lead us to hypothesize that patients who relapse might develop a second more subtle genetic lesion.

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Letessier, A., M.-J. Mozziconacci, A. Murati, J. Juriens, J. Adélaïde, D. Birnbaum, and M. Chaffanet. "Multicolour-banding fluorescence in situ hybridisation (mbanding-FISH) to identify recurrent chromosomal alterations in breast tumour cell lines." British Journal of Cancer 92, no. 2 (January 2005): 382–88. http://dx.doi.org/10.1038/sj.bjc.6602228.

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Leonida, Stephanie R. L., Nigel C. Bennett, Andrew R. Leitch, and Chris G. Faulkes. "Patterns of telomere length with age in African mole-rats: New insights from quantitative fluorescence in situ hybridisation (qFISH)." PeerJ 8 (December 4, 2020): e10498. http://dx.doi.org/10.7717/peerj.10498.

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Naked mole-rats Heterocephalus glaber (NMRs) are the longest-lived rodent and also resist the normal signs of senescence. In a number of species, cellular ageing has been correlated with a reduction in telomere length, yet relatively little is known about telomeres and their age-related dynamics in NMRs and other African mole-rats. Here, we apply fluorescence in situ hybridisation (FISH) to quantify telomeric repeat sequences in the NMR, the Damaraland mole-rat, Fukomys damarensis (DMR) and the Mahali mole-rat, Cryptomys hottentotus mahali (MMR). Both terminal and non-terminal telomeric sequences were identified in chromosomes of the NMR and DMR, whilst the MMR displayed only terminal telomeric repeats. Measurements of tooth wear and eruption patterns in wild caught DMRs and MMRs, and known ages in captive bred NMRs, were used to place individuals into relative age classes and compared with a quantitative measure of telomeric fluorescence (as a proxy for telomere size). While NMRs and MMRs failed to show an age-related decline in telomeric fluorescence, the DMR had a significant decrease in fluorescence with age, suggesting a decrease in telomere size in older animals. Our results suggest that among African mole-rats there is variation between species with respect to the role of telomere shortening in ageing, and the replicative theory of cellular senescence.

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Journal articles on the topic 'FISH (Fluorescence In Situ Hybridisation)'

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