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爆发性黑素细胞痣中 BRAF 突变的鉴定:对黑素瘤发生的新认识?

Identification of BRAF mutations in eruptive melanocytic nevi: new insights into melanomagenesis?

机构信息

Department of Molecular Oncology, The Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA.

出版信息

Expert Rev Anticancer Ther. 2011 May;11(5):711-4. doi: 10.1586/era.11.30.

Abstract

Eruptive melanocytic nevi (EMN) is an unusual phenomenon characterized by the abrupt, simultaneous appearance of hundreds of melanocytic nevi on previously uninvolved sun-exposed skin. The mechanisms underlying this phenomenon are not well understood, but have been associated with both systemic immunosuppression and bullous dermatoses. The paper under evaluation brings new insight into the molecular events underlying EMN development in a patient receiving 6-mercaptopurine immunosuppressive therapy for ulcerative colitis. Sequencing of DNA from 20 eruptive nevi revealed the presence of BRAF V600E mutations in 85% of the lesions tested. The role of mutated BRAF in the initiation and progression of melanoma in conjunction with the strong correlation between nevus number and melanoma risk suggests the need for photoprotection in patients receiving thiopurine therapy. The study under evaluation further points to the possible interaction between environmental mutagens and UV radiation in the acquisition of BRAF mutations that may in turn increase the risk of melanoma development.

摘要

爆发性黑素细胞痣(EMN)是一种不常见的现象,其特征是先前未受累的日晒皮肤上突然同时出现数百个黑素细胞痣。这种现象的发生机制尚不清楚,但与全身性免疫抑制和大疱性皮肤病有关。正在评估的论文为接受巯嘌呤免疫抑制治疗溃疡性结肠炎的患者中 EMN 发展的分子事件提供了新的见解。对 20 个爆发性痣的 DNA 进行测序,结果显示在 85%的检测到的病变中存在 BRAF V600E 突变。突变 BRAF 在黑色素瘤的起始和进展中的作用以及痣数量与黑色素瘤风险之间的强相关性表明,接受硫嘌呤治疗的患者需要进行光保护。正在评估的研究进一步指出,环境诱变剂和 UV 辐射之间可能存在相互作用,从而获得 BRAF 突变,这可能反过来增加黑色素瘤发展的风险。

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