scholarly journals Cytogenetic abnormality in patients with multiple myeloma analyzed by fluorescent in situ hybridization

2016 ◽  
pp. 1145 ◽  
Author(s):  
Ying Hu ◽  
Wenming Chen ◽  
Shilun Chen ◽  
Zhongxia Huang
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Cytogenetic Abnormality

Detection of t(4;14)(p16.3;q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent In Situ Hybridization

Blood ◽  
1999 ◽  
Vol 94 (2) ◽  
pp. 724-732 ◽  
Author(s):  
Palma Finelli ◽  
Sonia Fabris ◽  
Savina Zagano ◽  
Luca Baldini ◽  
Daniela Intini ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Cell Lines ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Translocation ◽  
Fish Analysis ◽  
Interphase Nuclei ◽  
Igh Locus ◽  
Normal Controls

Abstract Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), variable chromosome partners have been identified by conventional cytogenetics, including the 11q13, 8q24, 18q21, and 6p21 loci. We and others have recently reported a novel, karyotypically undetectable chromosomal translocation t(4;14)(p16.3;q32) in MM-derived cell lines, as well as in primary tumors. The 4p16.3 breakpoints are relatively scattered and located less than 100 kb centromeric of the fibroblast growth factor receptor 3 (FGFR3) gene or within the recently identified WHSC1 gene, both of which are apparently deregulated by the translocation. To assess the frequency of the t(4;14)(p16.3;q32) translocation in MM, we performed a double-color fluorescent in situ hybridization (FISH) analysis of interphase nuclei with differently labeled probes specific for the IGH locus (a pool of plasmid clones specific for the IGH constant regions) or 4p16.3 (yeast artificial chromosome (YAC) 764-H1 spanning the region involved in breakpoints). Thirty MM patients, the MM-derived cell lines KMS-11 and OPM2, and six normal controls were examined. The identification of a t(4;14) translocation, evaluated as the presence of a der(14) chromosome, was based on the colocalization of signals specific for the two probes; a cutoff value of 15% (mean + 3 standard deviation [SD]) derived from the interphase FISH of the normal controls (range, 5% to 11%; mean ± SD, 8.16 ± 2.2) was used for the quantification analysis. In interphase FISH, five patients (one in clinical stage I, two in stage II, one in stage III, and a plasma cell leukemia) were found to be positive (≈15%). FISH metaphases with split or colocalized signals were detected in only two of the translocated cases and confirmed the pattern found in the interphase nuclei. Furthermore, in three of the five cases with the translocation, FISH analysis with the IGH joining probe (JH) showed the presence of the reciprocal product of the translocation [der(4) chromosome]. Overall, our study indicates that the t(4;14)(p16.3;q32) chromosomal translocation is a recurrent event in MM tumors and may contribute towards the detection of this lesion and our understanding of its pathogenetic and clinical implications in MM.

Detection of t(4;14)(p16.3;q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent In Situ Hybridization

Blood ◽  
1999 ◽  
Vol 94 (2) ◽  
pp. 724-732 ◽  
Author(s):  
Palma Finelli ◽  
Sonia Fabris ◽  
Savina Zagano ◽  
Luca Baldini ◽  
Daniela Intini ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Cell Lines ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Translocation ◽  
Fish Analysis ◽  
Interphase Nuclei ◽  
Igh Locus ◽  
Normal Controls

Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), variable chromosome partners have been identified by conventional cytogenetics, including the 11q13, 8q24, 18q21, and 6p21 loci. We and others have recently reported a novel, karyotypically undetectable chromosomal translocation t(4;14)(p16.3;q32) in MM-derived cell lines, as well as in primary tumors. The 4p16.3 breakpoints are relatively scattered and located less than 100 kb centromeric of the fibroblast growth factor receptor 3 (FGFR3) gene or within the recently identified WHSC1 gene, both of which are apparently deregulated by the translocation. To assess the frequency of the t(4;14)(p16.3;q32) translocation in MM, we performed a double-color fluorescent in situ hybridization (FISH) analysis of interphase nuclei with differently labeled probes specific for the IGH locus (a pool of plasmid clones specific for the IGH constant regions) or 4p16.3 (yeast artificial chromosome (YAC) 764-H1 spanning the region involved in breakpoints). Thirty MM patients, the MM-derived cell lines KMS-11 and OPM2, and six normal controls were examined. The identification of a t(4;14) translocation, evaluated as the presence of a der(14) chromosome, was based on the colocalization of signals specific for the two probes; a cutoff value of 15% (mean + 3 standard deviation [SD]) derived from the interphase FISH of the normal controls (range, 5% to 11%; mean ± SD, 8.16 ± 2.2) was used for the quantification analysis. In interphase FISH, five patients (one in clinical stage I, two in stage II, one in stage III, and a plasma cell leukemia) were found to be positive (≈15%). FISH metaphases with split or colocalized signals were detected in only two of the translocated cases and confirmed the pattern found in the interphase nuclei. Furthermore, in three of the five cases with the translocation, FISH analysis with the IGH joining probe (JH) showed the presence of the reciprocal product of the translocation [der(4) chromosome]. Overall, our study indicates that the t(4;14)(p16.3;q32) chromosomal translocation is a recurrent event in MM tumors and may contribute towards the detection of this lesion and our understanding of its pathogenetic and clinical implications in MM.

Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution

2019 ◽  
Vol 96 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Manal O. Elnenaei ◽  
Philipp Knopf ◽  
Samuel D. Cutler ◽  
Keaton Sinclair ◽  
Mohamed Abou El Hassan ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Copy Number ◽  
Fluorescent In Situ Hybridization

scholarly journals Pattern of Cytogenetic Abnormality by Fluorescence in Situ Hybridization (FISH) in Multiple Myeloma Patients in a Tertiary Hospital

2022 ◽  
Vol 8 (1) ◽  
pp. 212-224
Author(s):  
Alamgir Ahmed
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Risk Stratification ◽  
Fluorescence In Situ Hybridization ◽  
Prognostic Significance ◽  
Staging System ◽  
Cytogenetic Abnormality ◽  
Survival Duration ◽  
Female Ratio

Background: Multiple myeloma is a plasma cell neoplasm with acquired genetic abnormalities of clinical and prognostic importance, with survival duration ranging from a few months to more than 10 years. Cytogenetic abnormalities (CA) detected by fluorescence in situ hybridization (FISH) are of major prognostic significance since e.g. patients with del(17p), t(4;14) or gain 1q21 show dismal outcome. Objective: To evaluate the cytogenetic patterns by fluorescence in situ hybridization (FISH) of clinically diagnosed cases of multiple myeloma.Methods:This cross-sectional study was conducted in Department of Haematology, Dhaka Medical College Hospital, Dhaka, from January 2018 to December 2018. A total number of 30 patients with multiple myeloma were analyzed cytogenetically by interphase fluorescence in situ hybridization (iFISH). The collected data were analyzed by using the Statistical Package for Social Science (SPSS-24) for windows version 10.0.Results:Out of 30 diagnosed Multiple Myeloma cases the mean age was 56.37±10.38 years and male to female ratio was almost 3:1. Sixteen (56.7%) of 30 patients. Among 30 cases of 8 cases were thyrogenicity positive of 7(23.3%) patients was detected del 13q positive. Isolated del 13q was found in 4 cases. 2 cases were found coexistence of del 13q and del 17p positive ;1 case was found coexistence of del 13q and t(4;14) positive and rest of 1 case had del 17 p positive. There was no detectable t (11; 14) and t(14;16) in any of 30 cases.Conclusion:FISH panel for Multiple Myeloma including del (13q); t(11;14); t(4;14), del(17p), t(14;16) is very important molecular test for the prognosis , risk stratification, treatment modality of the patient. On the basis of cytogenetic abnormality Multiple Myeloma risk stratification is modified now a day. This Revised International Staging system R-ISS is a simple and powerful prognostic staging system.

Single Institution Study of Abnormalities Involving Chromosomes 13 and 17 Detected by Classical Cytogenetics and Fluorescent In Situ Hybridization in Myeloma and Their Relationship to Survival in Patients Undergoing Autologous Stem Cell Transplant.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 5072-5072
Author(s):  
Arun Rajan ◽  
Constance Stein ◽  
Teresa Gentile ◽  
Chirag Shah
Keyword(s):  
Multiple Myeloma ◽  
Stem Cell ◽  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Single Institution ◽  
Conventional Cytogenetics ◽  
Normal Fish ◽  
Normal Cytogenetics ◽  
Classical Cytogenetics

Abstract Multiple myeloma is associated with a variety of chromosomal anomalies each of which may affect survival to varying degrees. Recent data indicate that patients with chromosome 13 and 17 anomalies have a poor prognosis. In the current single institution study we analyzed the presence of anomalies involving chromosomes 13 and 17 detected by classical cytogenetics (karyotype analysis) (CC) and interphase fluorescent in situ hybridization (FISH) in patients who underwent autologous stem cell transplantation for multiple myeloma and correlated this with mean survival. Our patients had undergone autologous stem cell transplantation between April 1998 and March 2006. Of the 79 patients studied, data on CC and FISH was available on 43 patients and 29 patients respectively. 34 of 43 patients had normal CC and 11 of 29 patients had normal FISH. The mean survival of patients with normal cytogenetics was 45.36 months and for those with a normal FISH result it was 50 months. 9 of 43 patients had an abnormal CC result and 18 of 29 patients had an abnormal FISH result. Mean survival with an abnormal CC result was 30.40 months compared to 40.83 months with an abnormal FISH result. Anomalies of chromosomes 13 and/or 17 were seen in 6 of 9 patients by CC and 15 of 18 patients by FISH. Mean survival in these two groups was 30.25 months and 42.80 months respectively. These results indicate that normal cytogenetics and fluorescent in situ hybridization results at the time of diagnosis are associated with favorable outcome. The presence of abnormalities detected by conventional cytogenetics is associated with poorer outcome, particularly for deletion 13q and deletion 17p. Patients with interphase FISH abnormalities for chromosomes 13 and 17 have better survival than those with abnormalities for these chromosomes detected by conventional cytogenetics. Abnormalities in conventional cytogenetics may suggest actively proliferating disease. Thus interphase FISH should not substitute for conventional cytogenetic analysis in the diagnosis of myeloma.

The recurrent IgH translocations are highly associated with nonhyperdiploid variant multiple myeloma

Blood ◽  
2003 ◽  
Vol 102 (7) ◽  
pp. 2562-2567 ◽  
Author(s):  
Rafael Fonseca ◽  
Carina S. Debes-Marun ◽  
Elisa B. Picken ◽  
Gordon W. Dewald ◽  
Sandra C. Bryant ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
In Situ Hybridization ◽  
Heavy Chain ◽  
Dna Content ◽  
Mayo Clinic ◽  
Fluorescent In Situ Hybridization ◽  
Eastern Cooperative Oncology Group ◽  
Oncology Group

Abstract Aneuploid is ubiquitous in multiple myeloma (MM), and 4 cytogenetic subcategories are recognized: hypodiploid (associated with a shorter survival), pseudodiploid, hyperdiploid, and near-tetraploid MM. The hypodiploid, pseudodiploid, and near-tetraploid karyotypes can be referred to as the nonhyperdiploid MM. Immunoglobulin heavy-chain (IgH) translocations are seen in 60% of patients. We studied the relation between aneuploidy and IgH translocations in MM. Eighty patients with MM and abnormal metaphases were studied by means of interphase fluorescent in situ hybridization (FISH) to detect IgH translocations. We also studied a second cohort of 199 patients (Eastern Cooperative Oncology Group [ECOG]) for IgH translocations, chromosome 13 monosomy/deletions (Δ13), and ploidy by DNA content. Mayo Clinic patients with abnormal karyotypes and FISH-detected IgH translocation were more likely to be nonhyperdiploid (89% versus 39%, P < .0001). Remarkably, 88% of tested patients with hypodiploidy (16 of 18) and 90% of tested patients with tetraploidy (9 of 10) had an IgH translocation. ECOG patients with IgH translocations were more likely to have nonhyperdiploid MM by DNA content (68% versus 21%, P < .001). This association was seen predominantly in patients with recurrent chromosome partners to the IgH translocation (11q13, 4p16, and 16q23). The classification of MM into hyperdiploidy and nonhyperdiploidy is dictated largely by the recurrent (primary) IgH translocations in the latter. (Blood. 2003;102:2562-2567)

1796: Analysis of Chromosomal Aneuploidy in Patients with Oligoasthenoteratozoospermia(OAT) Using Fluorescent in-situ Hybridization

2007 ◽  
Vol 177 (4S) ◽  
pp. 596-597
Author(s):  
Joseph P. Alukal ◽  
Bobby B. Najari ◽  
Wilson Chuang ◽  
Lata Murthy ◽  
Monica Lopez-Perdomo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Aneuploidy
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