Rare histologic subtypes of melanoma, including acral, mucosal, uveal, and desmoplastic melanomas, only make up 5% of all diagnosed melanomas and are often underrepresented in large, randomized trials. Recent advancements in systemic therapy have shown marked improvement in pathologic response rates, improving progression-free and overall survival among cutaneous melanoma patients, but there are limited data to demonstrate improved survival among rarer subtypes of melanoma. Acral melanoma has a poor response to immunotherapy and is associated with worse survival. Mucosal melanoma has a large variability in its presentation, a poor prognosis, and a low mutational burden. Uveal melanoma is associated with a high rate of liver metastasis; recent adoption of infusion and perfusion therapies has demonstrated improved survival among these patients. Desmoplastic melanoma, a high-risk cutaneous melanoma, is associated with high locoregional recurrence rates and mutational burden, suggesting this melanoma may have enhanced response to immunotherapy. While these variants of melanoma represent distinct disease entities, this review highlights the clinicopathologic characteristics and treatment recommendations for each of these rare melanomas and highlights the utility of modern therapies for each of them.
罕见组织学亚型的黑色素瘤，包括肢端、黏膜、葡萄膜和促结缔组织增生性黑色素瘤，仅占所有确诊黑色素瘤的5%，且在大型随机试验中代表性不足。全身治疗的最新进展显著提高了病理缓解率，改善了皮肤黑色素瘤患者的无进展生存期和总生存期，但关于罕见亚型黑色素瘤生存期改善的数据有限。肢端黑色素瘤对免疫治疗反应较差，且生存期更短。黏膜黑色素瘤临床表现差异大，预后不良，突变负荷低。葡萄膜黑色素瘤肝转移率高；近期采用的输注和灌注疗法已证明可改善此类患者的生存期。促结缔组织增生性黑色素瘤作为一种高危皮肤黑色素瘤，局部复发率和突变负荷高，提示该亚型可能对免疫治疗反应更佳。尽管这些黑色素瘤亚型代表不同的疾病实体，本综述重点阐述了每种罕见黑色素瘤的临床病理特征和治疗建议，并强调了现代疗法在各类亚型中的应用价值。
Clinical Characteristics and Special Considerations in the Management of Rare Melanoma Subtypes
肿瘤(癌症)患者之家