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J Int Med Res ; 52(3): 3000605241239034, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38546260

RESUMO

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.


Assuntos
Micose Fungoide , Neoplasias Cutâneas , Humanos , Estudos de Casos e Controles , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Células T de Memória , Micose Fungoide/genética , Micose Fungoide/patologia , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética
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