蕈样肉芽肿是原发皮肤T细胞淋巴瘤中最常见的类型，其发病机制仍然不清楚。研究显示，蕈样肉芽肿存在高频染色体片段拷贝数变异，如染色体7q、1q、17q的扩增和9p21、10q、17p的缺失，导致相应区域上原癌基因扩增和抑癌基因丢失，从而促进肿瘤的发生发展。同时蕈样肉芽肿中存在低频单核苷酸变异，这些变异基因主要集中在细胞周期调控、细胞凋亡、染色质重塑以及T细胞活化相关的通路上。蕈样肉芽肿很少有发生基因融合变异的报道。另外，部分蕈样肉芽肿病例会发生大细胞转化，往往预示疾病进展及药物抵抗等不良预后。总之，蕈样肉芽肿是一种具有高度分子遗传学异质性的复杂疾病，未来还需要更广泛深入的机制研究。“,”Mycosis fungoides (MF) is the most common subtype of primary cutaneous T-cell lymphoma, and its pathogenesis remains unclear. Recent studies have uncovered high-frequency chromosomal copy number variations in MF, such as gain of chromosomes7q,1q,17q and loss of 9p21,10q,17p, which lead to the gain of proto-oncogenes and loss of tumor suppressor genes, and finally result in tumor development and progression. Moreover, low-frequency single-nucleotide variants have been found in MF, and these mutated genes are mostly enriched in the pathways associated with cell cycle regulation, cell apoptosis, chromatin remodeling as well as T cell activation. Gene-fusion variation is rarely reported in MF. In addition, large cell transformation may occur in some MF cases, and often indicates poor prognoses such as disease progression and drug resistance. In conclusion, MF is a complex disease with highly molecular genetic heterogeneity, and more extensive and intensive researches on its pathogenesis are needed in the future.