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CC BY 4.0 · Indian J Med Paediatr Oncol 2023; 44(05): 505-514
DOI: 10.1055/s-0043-1762920
Review Article

Role of Conventional Cytogenetics and FISH in the Laboratory Work Up of Plasma Cell Dyscrasias

Aaishwarya Dhabe
1   Department of Cytogenetics, Tata Medical Center, MAR(EW), Newtown, Kolkata, India
,
Samipa Das
1   Department of Cytogenetics, Tata Medical Center, MAR(EW), Newtown, Kolkata, India
,
Mayur Parihar
1   Department of Cytogenetics, Tata Medical Center, MAR(EW), Newtown, Kolkata, India
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Abstract

Plasma cell dyscrasias are a heterogeneous group of neoplasms characterized by abnormal proliferation of plasma cells with or without over production of monoclonal immunoglobulins. Chromosomal abnormalities are acquired either early in the course of the disease or during disease progression. Plasma cell dyscrasias are categorized into multiple cytogenetic subtypes that form an integral component of risk-stratified treatment protocols. The primary genetic events are IgH gene translocations and non-random gains of chromosomes 3/5/7/9/11/15/19 and or 21. The secondary genetic events consist of chromosome 1 abnormalities (1p deletion and 1q gain or amplification), deletion 17p/TP53, deletion 13q, and MYC gene rearrangements. Plasma cells being at the end of differentiation spectrum of B cells, have low proliferative potential precluding the use of karyotyping in identification of chromosomal abnormalities. Analysis of enriched plasma cells using interphase fluorescent in situ hybridization (FISH) is the technique of choice for identifying these abnormalities. It is essential to enrich plasma cells before the FISH analysis, and numerous plasma cell enrichment techniques have been described. In the paper, we review the cytogenetic approach to identify clinically significant genetic aberrations including the effective use of FISH panels and plasma cell enrichment techniques.

Keywords

plasma cell dyscrasia - multiple myeloma - FISH - MGUS - SMM - plasma cell leukemia - cytogenetics in myeloma

Authors' Contributions

A.D. and M.P. wrote the original draft, S.D. prepared the figures; M.P. and A.D. have full access to all data and the final responsibility for publication. All authors reviewed the manuscript draft submitted for publication.




Publication History

Article published online:
24 April 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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