Journal of International Medical Research (Mar 2024)

Genetic predisposition to early mycosis fungoides: investigating genetic polymorphisms in tissue-resident memory T-cell genes

  • Nour Almaani,
  • Fatima Farhan,
  • Salsabiela Bani Hamad,
  • Eman A Abuhawileh,
  • Lana Koubaitary,
  • Mamoun Ahram,
  • Tariq N Aladily

DOI
https://doi.org/10.1177/03000605241239034
Journal volume & issue
Vol. 52

Abstract

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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.