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    Myeloma Genomics and Microenvironment and immune profiling

    Category: Myeloma Genomics and Microenvironment and immune profiling

    Study on loss of sex chromosomes in peripheral blood cells of patients with multiple myeloma: A cross-sectional analysis in Indian setup

    (PA-271) Study on Loss of Sex Chromosomes in Peripheral Blood Cells of Patients with Multiple Myeloma: A Cross-sectional Analysis in Indian Setup

    Wednesday, September 17, 2025
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    Introduction:      Loss of sex chromosomes has been observed both as an age-related phenomenon in the elderly and in individuals with hematological malignancies. There is a clear gender disparity in multiple myeloma (MM) incidence, with approximately 57% occurring in males and 43% in females. The underlying cause of this disparity remains poorly understood. Differences between genders at the genomic level may contribute to variations in cancer susceptibility, and outcomes. We undertook this study to explore association between the loss of sex chromosomes and MM.

    Methods:   An analytical cross-sectional study was conducted across three study populations; MM, non-MM malignancies and healthy control group. The patients were selected irrespective of the status of their disease or chemotherapy. Detailed clinical evaluation was performed followed by a CBC and interphase FISH using dual-color CEP XY probes (MetaSystems) on peripheral blood samples. Following DAPI (4,6-diamidine2-phenylindole) counterstaining, the slides were examined using a Zeiss microscope fitted with FITC-TRITC epifluorescence optics, and a digital camera with ISIS software (Metasystems, GmbH, Altlussheim, Germany). 1000 interphase nuclei were scored for every sample. Nuclei with presence of one or two X chromosomes was used to score the cells. The proportion of the total number counted is used to describe the X and Y loss rate. The relevant FISH findings, clinical data and other laboratory investigation values were cross analyzed and integrated.

    Results:   A total of 80 samples (29 MM, 33 non-MM and 18 healthy controls) were analyzed with mean loss of sex chromosome being 0.46±0.25%, 1.7±0.22% and 0.25±0.29% respectively, the difference being statistically significant (p< 0.0001). 55% of females had a mosaic loss X chromosome (mLOX) in more than 0.4% cells and 20% of male had a mosaic loss of Y chromosome (mLOY) in more than 0.3% cells. Significant correlation was observed between mLOX and age at menarche (r-0.460; p-0.0016) but not with age at menopause. There was no significant correlation of mLOX/ mLOY with age at onset, prevalence of hypercalcemia, renal dysfunction, anemia and bone lesions in both males and females.

    Conclusions:   Loss of sex chromosome was not significantly higher in MM compared to healthy controls and was much less pronounced than non-MM malignancies. A significant correlation exists between sex chromosome loss and age at menarche suggests a possible link between early hormonal parameters and genomic instability. Lack of significant correlation with age at onset and CRAB parameters indicate that sex chromosome loss is not directly associated with disease severity or progression in myeloma. However chromosomal instability may lead to other non-MM malignancies.