蕈样肉芽肿分子遗传学致病机制的研究进展

doi:10.35541/cjd.20190860

中华皮肤科杂志 ›› 2021, Vol. 54 ›› Issue (2): 174-178.doi: 10.35541/cjd.20190860

蕈样肉芽肿分子遗传学致病机制的研究进展

刘凤洁涂平汪旸

北京大学第一医院皮肤性病科 100034

收稿日期:2019-08-29 修回日期:2020-07-15 发布日期:2021-01-29
通讯作者: 汪旸 E-mail:yangwang_dr@bjmu.edu.cn

Molecular genetic pathogenesis of mycosis fungoides

Liu Fengjie, Tu Ping, Wang Yang

Department of Dermatology and Venereology, Peking University First Hospital, Beijing 100034, China

Received:2019-08-29 Revised:2020-07-15 Published:2021-01-29
Contact: Wang Yang E-mail:yangwang_dr@bjmu.edu.cn

摘要/Abstract

摘要： 【摘要】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。

关键词: 蕈样真菌病, 染色体结构变异, 多态性, 单核苷酸, 基因融合, 比较基因组杂交, 大细胞转变

Abstract: 【Abstract】 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.

Key words: Mycosis fungoides, Genomic structural variation, Polymorphism, single nucleotide, Gene fusion, Comparative genomic hybridization, Large-cell transformation

刘凤洁涂平汪旸. 蕈样肉芽肿分子遗传学致病机制的研究进展[J]. 中华皮肤科杂志, 2021,54(2):174-178. doi:10.35541/cjd.20190860

Liu Fengjie, Tu Ping, Wang Yang. Molecular genetic pathogenesis of mycosis fungoides[J]. Chinese Journal of Dermatology, 2021, 54(2): 174-178.doi:10.35541/cjd.20190860

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蕈样肉芽肿分子遗传学致病机制的研究进展

Molecular genetic pathogenesis of mycosis fungoides

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