Background: Multiple myeloma (MM) is a blood cancer characterized by the uncontrolled growth of plasma cells in the bone marrow. It typically develops from monoclonal gammopathy of undetermined significance (MGUS), which can progress to smoldering myeloma and eventually to symptomatic disease. Diagnosis is primarily established using serum protein electrophoresis (SPEP), immunofixation electrophoresis (IFE), and free light chain (FLC) testing. Additionally, fluorescence in situ hybridization (FISH) plays a crucial role in identifying genetic abnormalities that influence disease course and prognosis. This study aims 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.
Methods: Samples received for SPEP from 2017 to 2023 were analysed. Patients with abnormalities on electrophoresis (Such as distortions or 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, and cytogenetic abnormalities were detected 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 (14cvzaQ; 20) (7.4%), monosomy 13 (5.9%), and monosomy 14 (4.4%).
Conclusion: A majority of MM patients showed abnormalities on FISH, with IGH break-apart being the most frequently detected. These cytogenetic abnormalities provide valuable prognostic information and can help guide treatment decisions. This study emphasizes the importance of routine cytogenetic profiling in MM to optimize therapeutic outcomes. Molecular cytogenetic techniques, especially FISH, are essential tools in the evaluation of suspected multiple myeloma. They play a pivotal role in detecting genetic abnormalities, guiding treatment strategies, and ultimately improving patient outcomes.
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