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    Myeloma Genomics and Microenvironment and immune profiling

    Unveiling the Spectrum of FISH Abnormalities in a Decade-Long Retrospective Study of Multiple Myeloma Patients: Insights from an Underrepresented Population.

    P-424: Unveiling the Spectrum of FISH Abnormalities in a Decade-Long Retrospective Study of Multiple Myeloma Patients: Insights from an Underrepresented Population.

    Friday, September 27, 2024
    Introduction: Genomic aberrations are crucial in the progression and therapeutic response of Multiple Myeloma (MM). Fluorescent in situ hybridization (FISH) is a potent molecular biology technique for detecting and locating chromosomal abnormalities. Despite their diagnostic and prognostic significance, data on the frequency of these abnormalities is still being determined, particularly within diverse patient populations. Our study aims to enrich the genetic landscape of underrepresented MM patients.

    Methods: We meticulously conducted a retrospective analysis of MM patients diagnosed with biopsy at a cancer center in Brooklyn between 2013 and 2024. Comprehensive demographic information, FISH analysis outcomes, and specific abnormalities were diligently collected and analyzed.

    Results: Among the 135 patient records reviewed, 97 (71.8%) were biopsy-confirmed MM cases, with a median age of 69 years (range 36-90). Of these patients, 71 (52.5%) were male, and 64 (47.4%) were female. FISH analysis was available for 49 patients, primarily comprising African Americans (79.5%). Abnormal FISH findings were found in 36 patients, consisting of 17 (47.3%) females and 19 (52.7%) males, with multiple abnormalities observed in 25 patients. High-risk mutations included P53 mutation, 17p deletion, gain of 1q, Del(1p), t(14;16), and t(14;20). Intermediate risk mutations included t(4:14) and gain 1q25. Standard risk mutations included isolated monosomies, isolated hyperploidy, t(11:14), and t(6:14), whereas patients with normal FISH were classified as low risk. Among the 49 patients, FISH analysis revealed that 18 (36.7%) had hyperploidy, with Chromosome 9, 15 & 11 being the most common occurrences, seen in 12, 9 & 3 patients, respectively. Additionally, ten patients (20.4%) had hypoploidy, with monosomy 13 being the most common, observed in 8 patients. Moreover, 16 (32.6%) patients exhibited translocations, with the most frequent being IGH/CCNd1 (t11:14) in 8 (50%) patients. Furthermore, deletions were observed in 8 (16.3%) patients, with del TP53/17p being the most common seen in 6 patients. Gain/amplification of a gene was observed in 13 (36.7%) patients, with CCND1 and 1q21 being the most common, seen in 7 patients. Notably, 13 (26.5%) patients showed no abnormality in the FISH analysis.

    Conclusions: In our underrepresented study cohort, 44.44% of the patients exhibited high-risk cytogenetics (CG), 13.88% were intermediate-risk, and 41.66% were standard-risk. Hyperploidy emerged as the most frequent abnormality, while translocation t(14:16) and t(4:14) were rare. The prevalence of multiple CG underscores the heterogeneity within MM, thus providing crucial insights for future research and clinical practice.