Spectrum of FISH-detected Genetic Alterations in Newly Diagnosed and Relapsed/Refractory Multiple Myeloma: A Cross-sectional Observational Study from a North Indian Tertiary Care Hospital

Background: Fluorescence in situ hybridization (FISH) plays a pivotal role in uncovering cytogenetic irregularities in multiple myeloma (MM).Identifying recurrent genetic anomalies like deletions (e.g., 17p) and gain-of-function mutations (e.g., 1q21) informs disease severity.This study delves into the prevalence and significance of these abnormalities in newly diagnosed and relapsed/refractory MM (RRMM) cases.Materials and methods: This 18-month observational study (July 2020 to December 2021) at a tertiary care hospital focused on genetic abnormalities in newly diagnosed and RRMM patients.Ethical clearance and patient consent were obtained.The research aimed to analyze genetic abnormalities through FISH and apply the revised International Staging System (R-ISS) for risk stratification.Data were analyzed using SPSS software, employing descriptive statistics and the Wilcoxon test for non-normally distributed data; a p-value < 0.05 was considered significant.Results: In our study of 53 MM patients, 94% were newly diagnosed, and 6% were relapsed/refractory cases.The mean age was 54.30 ± 10.55 years, with a male-to-female ratio of 1.8:1.Plasma cell FISH revealed genetic abnormalities in 47%, with del 13q (28%) as the most common. Prognostic indices ISS and R-ISS showed ISS stage III in 40% and R-ISS stage II in 49%.Conclusion: In summary, our study provides a comprehensive analysis of recurrent genetic abnormalities in MM patients using FISH analysis, emphasizing the clinical utility of this technique in MM management.These North India-specific data underscore the importance of considering ethnic diversity in MM genetics research.