Objectives: Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma; it arises from tissue-resident memory T-cells (TRM). 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 TRM 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 TRM 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.
Keywords: Mycosis fungoides; cutaneous T-cell lymphoma; genetic polymorphism; single nucleotide polymorphism; tissue-resident memory T-cell; whole-exome sequencing.