Xq24/<i>IL13RA1</i> aberrations as key drivers of female bias in primary mediastinal large B-cell lymphoma.

ABSTRACT: Female-biased incidence in primary mediastinal large B-cell lymphoma (PMBCL) is enigmatic and points to a potential contribution of the X chromosome in this disease. To elucidate the postulated involvement of X-linked factor(s), we profiled the X chromosome in 48 diagnostic PMBCLs of male (21) and female (27) origin. Molecular cytogenetic analysis detected copy number gain of X/Xq in all male patients and 59.3% (16/27) of female patients. The remaining female cases revealed either a cytogenetically cryptic copy-neutral loss of heterozygosity (CNLOH) of X/Xq (14.8%) or germline XX (25.9%). Remarkably, RNAseq data of 28 cases indicated a nonrandom involvement of transcriptionally active X homolog in gain/CNLOH, validated by hXIST RNA-fluorescence in situ hybridization (FISH) in two PM

SUBMITTER: Marcelis L 

PROVIDER: S-EPMC12475935 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature