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肢端黑素瘤:临床表现与突变状态的相关性。

Acral melanoma: correlating the clinical presentation to the mutational status.

机构信息

Section of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy -

Section of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

出版信息

G Ital Dermatol Venereol. 2019 Oct;154(5):567-572. doi: 10.23736/S0392-0488.18.05791-7. Epub 2018 Mar 6.

Abstract

Acral lentiginous melanoma (ALM) is the most common type of malignant melanoma (MM) in Asians, Afro-Americans and Middle-Easterners. It represents 1.5-10% of all MM cases, being the most common histological type of MM arising on palms, soles and nail apparatus, which is more generically defined as acral MM. To date no risk factors have been officially established, however a history of trauma may be involved in the pathogenesis of acral MM. This shows heterogeneous clinical features and frequently presents with advanced stage and aggressive behavior, often as a result of misdiagnosis or delayed identification. Dermoscopy is helpful for an early diagnosis of ALM: the most characteristic dermoscopic patterns are the parallel ridge and the irregular diffuse pigmentation. On histopathology ALM displays a lentiginous growth pattern, with melanocytes arranged as solitary units along the basilar epidermis, without notable pagetoid growth in the early stage. Not all acral MMs present a lentiginous pattern: superficial spreading melanoma and nodular melanoma patterns are also possible. Novel studies investigating the biologic characteristics of acral MM reported variable results: the overall mutational rates ranged respectively between 8.5% and 23% for KIT, between 3.6% and 33.3% for BRAF and between 3% and 47% for NRAS in ALMs. Increasing attention has been recently given to other genes, such as telomerase reverse transcriptase, platelet-derived growth factor receptor alfa and cyclin D1. Larger molecular investigations urge to describe the molecular profile of acral MM, to allow the development of specific targeted therapies.

摘要

肢端雀斑样黑素瘤(ALM)是亚洲人、非裔美国人和中东人最常见的恶性黑素瘤(MM)类型。它占所有 MM 病例的 1.5-10%,是最常见的发生于手掌、足底和甲襞的 MM 组织学类型,通常被广义地定义为肢端 MM。迄今为止,尚未有官方确定的危险因素,但创伤史可能与肢端 MM 的发病机制有关。它表现出异质的临床特征,并且常以晚期和侵袭性行为出现,这通常是由于误诊或延迟识别所致。皮肤镜检查有助于 ALM 的早期诊断:最具特征性的皮肤镜模式是平行脊和不规则弥漫性色素沉着。在组织病理学上,ALM 表现为一种雀斑样生长模式,黑素细胞沿基底层表皮呈单个单位排列,早期无明显的类上皮样生长。并非所有肢端 MM 都呈现出雀斑样模式:也可能出现浅表扩散性黑色素瘤和结节性黑色素瘤模式。研究肢端 MM 生物学特征的新研究报告了不同的结果:KIT 的总突变率分别在 8.5%和 23%之间,BRAF 在 3.6%和 33.3%之间,NRAS 在 3%和 47%之间。最近,人们越来越关注其他基因,如端粒酶逆转录酶、血小板衍生生长因子受体 alfa 和 cyclin D1。更大规模的分子研究促使我们描述肢端 MM 的分子特征,以允许开发特定的靶向治疗。

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