Comparison of &lt;b&gt;&lt;i&gt;IGH &lt;/i&gt;&lt;/b&gt;Profile Signals Using t(4;14) and &lt;b&gt;&lt;i&gt;IGH&lt;/i&gt;&lt;/b&gt; Break-Apart Probes by FISH in Multiple Myeloma

Smol, Thomas; Daudignon, Agnès

doi:10.1159/000481523

Cited by 4 publications

(6 citation statements)

References 16 publications

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“…Interphase FISH also identified submicroscopic deletions adjacent to the breakpoints of rearrangements undetected by conventional cytogenetics. IGH gene deletions including monoallelic deletion of entire IGH locus, monoallelic deletions of variable (IGHv)/ constant (IGHc) regions and biallelic deletion of IGHv have been reported in 14-23% of newly diagnosed patients with MM (Trakhtenbrot et al, 2010;Hwang et al, 2011;He et al, 2015;Smol and Daudignon, 2017). Atypical FISH signal patterns corresponding to deletion of the variable/ constant regions of the gene were observed in 8.4% of our patients (n=18) in the present study.…”

Section: Discussionsupporting

confidence: 48%

Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India

Govindasamy

Pandurangan

Tarigopula

et al. 2019

Asian Pac J Cancer Prev

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Objective: Multiple myeloma (MM) is a clinically and genetically heterogeneous plasma cell neoplasm. The prognosis of MM patients is dependent on several factors including the patient’s age, the stage of disease and genetic alterations. This study aimed to determine the frequency of common chromosomal abnormalities and their significance in MM patients referred to a tertiary healthcare center in India. Methods: Fluorescence in situ hybridization on interphase nuclei from bone marrow cells using seven MM-specific probes for recurrent aberrations was performed in a total of 215 newly diagnosed patients. Results: Chromosomal abnormalities were detected in 161 (74.9%) MM patients in this study. The most frequent aberration was trisomy(ies) involving only gain of chromosomes in 48 (22.3%) cases. A translocation involving the IGH gene alone or accompanied by trisomy(ies) or by monosomy 13/13q deletion or by both was registered in 80 (37.2%) patients. Atypical patterns such as a deletion of the IGH variable segment (IGHv) on the derivative chromosome 14 or on the native (normal) chromosome 14, biallelic deletion of IGHv, deletion of the IGH constant segment on the rearranged chromosome14 and extra fusions were noticed in 21 (9.8%) patients with an IGH rearrangement. Monosomy 13/deletion 13q was identified singly or as part of a complex karyotype in 74 patients (34.4%). Clonal heterogeneity and additional abnormalities including TP53 deletion and monosomies of chromosomes 4, 9, 14 and 16 were recorded in 18.6% and 16.3% of patients respectively. Patients with abnormalities exhibited plasmacytosis, reduced hemoglobin value and high level of ß2-microglobulin. Conclusions: A lower median age and a low frequency of IGH translocations particularly t(11;14) and chromosome 13 abnormalities suggest ethnic diversity. Further investigations on genetic alterations including IGH deletions will contribute to improved insights into the biology of myeloma disease, risk stratification and patient management.

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Section: Discussionsupporting

confidence: 48%

Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India

Govindasamy

Pandurangan

Tarigopula

et al. 2019

Asian Pac J Cancer Prev

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“…IGH numeric and structural abnormalities could be detected by immuno-flowFISH with signal patterns comparable to conventional FISH-on-a-slide 21–23. In traditional slide-based FISH, fused signals resulting from chromosomal translocations are seen as adjacent red and green signals.…”

Section: Discussionmentioning

confidence: 92%

“…The most common structural defects are translocations involving the IGH locus (14q32), seen in up to 55% of patients, and with a number of possible chromosomal partners. The t(11;14)( IGH/MYEOV ) occurs in 20% of patients and is usually associated with a favourable prognosis, whereas other translocation partners such as FGFR3 (t(4;14; IGH/FGFR3 ); 15% of cases) are higher risk and confer an unfavourable prognosis 1 5 9 10 17–23. Other secondary abnormalities (eg, del(17p), +1q21) are common in conjunction with IGH translocations and can arise during the course of the disease and infer poor outcomes 1–3 5–11 13–16 19 24–31…”

Section: Introductionmentioning

confidence: 99%

IGHcytogenetic abnormalities can be detected in multiple myeloma by imaging flow cytometry

et al. 2022

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AimsCytogenetic abnormalities involving the IGH gene are seen in up to 55% of patients with multiple myeloma. Current testing is performed manually by fluorescence in situ hybridisation (FISH) on purified plasma cells. We aimed to assess whether an automated imaging flow cytometric method that uses immunophenotypic cell identification, and does not require cell isolation, can identify IGH abnormalities.MethodsAspirated bone marrow from 10 patients with multiple myeloma were studied. Plasma cells were identified by CD38 and CD138 coexpression and assessed with FISH probes for numerical or structural abnormalities of IGH. Thousands of cells were acquired on an imaging flow cytometer and numerical data and digital images were analysed.ResultsUp to 30 000 cells were acquired and IGH chromosomal abnormalities were detected in 5 of the 10 marrow samples. FISH signal patterns seen included fused IGH signals for IGH/FGFR3 and IGH/MYEOV, indicating t(4;14) and t(11;14), respectively. In addition, three IGH signals were identified, indicating trisomy 14 or translocation with an alternate chromosome. The lowest limit of detection of an IGH abnormality was in 0.05% of all cells.ConclusionsThis automated high-throughput immuno-flowFISH method was able to identify translocations and trisomy involving the IGH gene in plasma cells in multiple myeloma. Thousands of cells were analysed and without prior cell isolation. The inclusion of positive plasma cell identification based on immunophenotype led to a lowest detection level of 0.05% marrow cells. This imaging flow cytometric FISH method offers the prospect of increased precision of detection of critical genetic lesions involving IGH and other chromosomal defects in multiple myeloma.

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“…MM is a clonal malignancy of differentiated B-cells with acquired genetic abnormalities of clinical importance unidentifiable by conventional cytogenetic analysis. Smol and Daudignon [12] compared IGH signal patterns using FGFR3-IGH dual-color, dual-fusion translocation probe, and IGH dual-color break-apart probe in 49 patients with MM. The t (4;14) translocation seen in 26% of cases was observed to be associated with multiple presentations of IGH, namely a loss or gain of the IGH locus and a deletion of the IGH variable segment.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Complex Chromosomal Abnormalities in a Case of Multiple Myeloma Using Spectral Karyotyping

Govindasamy

Kulshreshtha

Pandurangan

et al. 2018

Asian J Pharm Clin Res

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Objective: It was proposed to determine the chromosomal abnormalities in a 49-year-old male patient with multiple myeloma (MM) employing both conventional and advanced molecular cytogenetic techniques.Methods: GTG-banding and spectral karyotyping (SKY) on fixed metaphases obtained from LPS-stimulated bone marrow cells and interphase fluorescence in situ hybridization (iFISH) on unsorted marrow cells were carried out to identify genetic markers of prognostic significance.Results: The abnormal chromosomes observed through conventional cytogenetics could be resolved with SKY technique. The translocation t(4;14) (p16;q32) indicating FGFR3/IGH fusion and deletion of 13q14.3 was noticed using iFISH. The genetic abnormalities confirmed a poor prognostic outcome in the patient who died within 6 months of diagnosis.Conclusion: This report emphasizes the need for multicolor FISH techniques besides iFISH to resolve complex abnormalities and to identify cryptic aberrations of importance in risk stratification of MM patients.

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Comparison of <b><i>IGH </i></b>Profile Signals Using t(4;14) and <b><i>IGH</i></b> Break-Apart Probes by FISH in Multiple Myeloma

Cited by 4 publications

References 16 publications

Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India

Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India

IGHcytogenetic abnormalities can be detected in multiple myeloma by imaging flow cytometry

Analysis of Complex Chromosomal Abnormalities in a Case of Multiple Myeloma Using Spectral Karyotyping

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