粘膜黑素瘤(MM)是罕见的肿瘤,在所有被诊断的黑色素瘤中不到2%,由几乎所有粘膜上皮中的黑素细胞引起的各种恶性肿瘤组成,即使在口腔和鼻孔中更常见,肛门直肠和女性生殖器(外阴和阴道)。迄今为止,关于MM的最优管理策略尚无共识。此外,关于BRAF的分子肿瘤表征的临床原理,KIT或NRAS,以及免疫治疗的治疗价值,化疗和靶向治疗,尚未在MM中进行深入的探索和明确的建立。在本概述中,专注于肛门直肠和生殖器MM作为罕见黑色素瘤的模型,值得采用多学科方法,我们强调需要将这些患者转诊到黑色素瘤专家中心,肛门直肠和泌尿生殖道癌症治疗。考虑到稀有性,效果不佳,缺乏有效的MM治疗方案,需要及时促进量身定制的研究。
Mucosal melanomas (MM) are rare tumors, being less than 2% of all diagnosed melanomas, comprising a variegated group of malignancies arising from melanocytes in virtually all mucosal epithelia, even if more frequently found in oral and sino-nasal cavities, ano-rectum and female genitalia (vulva and vagina). To date, there is no consensus about the optimal management strategy of MM. Furthermore, the clinical rationale of molecular tumor characterization regarding BRAF, KIT or NRAS, as well as the therapeutic value of immunotherapy, chemotherapy and targeted therapy, has not yet been deeply explored and clearly established in MM. In this overview, focused on anorectal and genital MM as models of rare melanomas deserving of a multidisciplinary approach, we highlight the need of referring these patients to centers with experts in melanoma, anorectal and uro-genital cancers treatments. Taking into account the rarity, the poor outcomes and the lack of effective treatment options for MM, tailored research needs to be promptly promoted.