Journal of International Medical Research (Mar 2024)
Genetic predisposition to early mycosis fungoides: investigating genetic polymorphisms in tissue-resident memory T-cell genes
Abstract
Objectives Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma; it arises from tissue-resident memory T-cells (T RM ). In the present study, we investigated potential functional genetic variations that may predispose MF development. Methods A case–control study was conducted using whole-exome sequencing, with a focus on genes that are essential to T RM function. Results We included 21 patients and 19 healthy subjects in the study. Single nucleotide polymorphisms in the following genes were significantly more common in patients than in healthy subjects: GZMB , HLA-DRB1 , CD103 , and NOTCH1 . Moreover, the number of patients carrying single nucleotide polymorphisms in LAG3 , NR4A2 , and CD26L was significantly greater in the patient group than in the control group. Conclusions The presence of genetic variations in one or more T RM functional gene may predispose patients to develop MF. Further studies involving a larger patient population and a comparative analysis of protein expression will be necessary to validate these findings.