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罕见部位的皮肤和黏膜黑色素瘤:我们目前的进展如何?

Cutaneous and Mucosal Melanomas of Uncommon Sites: Where Do We Stand Now?

作者信息

Dika Emi, Lambertini Martina, Pellegrini Cristina, Veronesi Giulia, Melotti Barbara, Riefolo Mattia, Sperandi Francesca, Patrizi Annalisa, Ricci Costantino, Mussi Martina, Fargnoli Maria Concetta

机构信息

Dermatology, IRCCS Policlinico di Sant'Orsola, via Massarenti 9, 40138 Bologna, Italy.

Dermatology, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40138 Bologna, Italy.

出版信息

J Clin Med. 2021 Jan 28;10(3):478. doi: 10.3390/jcm10030478.

Abstract

Melanomas arising at uncommon sites include a group of lesions related to unusual localizations in specific ethnic groups. The rarity of the disease often represents a limit to the participation of patients in specific trials. However, this peculiar genetic scenario has important therapeutic implications regarding new oncologic therapies. The aim of this article is to review the clinical features, somatic alterations and therapeutic options for melanomas of uncommon sites. They can be classified as cutaneous and mucosal lesions affecting the nail apparatus, palms/soles, oral mucosa, genital area and scalp. The prognosis may be worse compared to melanomas of other districts, and a prompt diagnosis may dramatically influence the outcome. Dermatologists and oncologists should therefore distinguish this melanoma subgroup in terms of surgical intervention and medical treatment. Due to the lack of mutations in genes usually found in cutaneous melanomas, the discovery of novel targets is required to develop new strategies and to change the prognosis of non-responders or wild-type patients.

摘要

罕见部位发生的黑色素瘤包括一组与特定种族群体中异常定位相关的病变。该疾病的罕见性常常限制患者参与特定试验。然而,这种特殊的基因情况对于新的肿瘤治疗具有重要的治疗意义。本文旨在综述罕见部位黑色素瘤的临床特征、体细胞改变及治疗选择。它们可分为影响甲装置、手掌/足底、口腔黏膜、生殖器区域和头皮的皮肤和黏膜病变。与其他部位的黑色素瘤相比,其预后可能更差,及时诊断可能会显著影响治疗结果。因此,皮肤科医生和肿瘤学家应在手术干预和药物治疗方面区分这一黑色素瘤亚组。由于皮肤黑色素瘤中常见基因缺乏突变,需要发现新的靶点来制定新策略并改变无反应者或野生型患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aeb3/7866093/53fc425475d5/jcm-10-00478-g001.jpg

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