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Prevalence of Cytogenetic and Electrophoretic Abnormalities in Patients Suspected of multiple myeloma
Amudha Subramaniam1 , Saranya Raj1 , Thashreefa Olakara1 , Jayakumari S2 , Veronica Preetha Tilak1
1- St john’s Medical College and Hospital
2- St john’s Medical College and Hospital , jayakumari.s@stjohns.in ORCID number: 0000-0002-2104-8228
Abstract:   (92 Views)
Background: Multiple myeloma (MM) is a hematologic malignancy characterized by the abnormal proliferation of plasma cells within the bone marrow. MM arises from monoclonal gammopathy of undetermined significance (MGUS), which can progress to smoldering myeloma and then symptomatic MM The diagnosis of MM relies on Serum Protein Electrophoresis (SPEP), Immunofixation Electrophoresis (IFE), Free Light Chain (FLC) assays. Additionally, Fluorescence In Situ Hybridization (FISH) plays a crucial role in identifying genetic abnormalities that influence the disease course and prognosis. Objective: This study aimed to evaluate the prevalence of electrophoretic and genetic abnormalities among patients referred for serum protein electrophoresis, with a focus on cytogenetic abnormalities detected by FISH in confirmed MM cases.Materials and Methods: Samples received for SPEP from 2017 to 2023 were analysed. Patients with abnormalities on electrophoresis (distortions, M-spikes) underwent further evaluation, including immunofixation, free light chain assays, bone marrow examination, and other hematologic investigations. Confirmed MM cases were referred for FISH analysis to identify common cytogenetic abnormalities.Results: Out of 800 patients with electrophoretic abnormalities, 100 were confirmed to have multiple myeloma. FISH analysis was available for 68 of these cases, detecting cytogenetic abnormalities in 67.6% of patients. The most common abnormalities were IGH break apart (54.5%), followed by p53 deletion (23.5%), t(4;14) (14.7%), t(14;20) (7.4%), monosomy 13 (5.9%), and monosomy 14 (4.4%). Conclusion: A majority of MM patients exhibited abnormalities on FISH, with IGH break-apart being the most frequently detected. The presence of these cytogenetic abnormalities offers valuable prognostic information and may help guide treatment decisions.
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Keywords: Multiple myeloma, fluorescent in situ hybridization, Electrophoresis
Full-Text [PDF 712 kb]   (33 Downloads)    
Research Article: Original Paper | Subject: Human Genetics
Received: 2024/11/4 | Accepted: 2025/08/27
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