Shannon Adrienne B, Zager Jonathan S, Perez Matthew C
Department of Cutaneous Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.
Cancers (Basel). 2024 Jun 28;16(13):2395. doi: 10.3390/cancers16132395.
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.
黑色素瘤的罕见组织学亚型，包括肢端、黏膜、葡萄膜和促纤维增生性黑色素瘤，仅占所有确诊黑色素瘤的5%，并且在大型随机试验中的代表性往往不足。全身治疗的最新进展已显示出病理缓解率有显著提高，改善了皮肤黑色素瘤患者的无进展生存期和总生存期，但仅有有限的数据表明罕见黑色素瘤亚型的生存期有所改善。肢端黑色素瘤对免疫治疗反应不佳，且与较差的生存率相关。黏膜黑色素瘤的表现差异很大，预后不良，且突变负荷较低。葡萄膜黑色素瘤与肝转移率高相关；最近采用的灌注和输注疗法已显示这些患者的生存期有所改善。促纤维增生性黑色素瘤是一种高危皮肤黑色素瘤，与高局部区域复发率和突变负荷相关，提示这种黑色素瘤可能对免疫治疗反应增强。虽然这些黑色素瘤变体代表不同的疾病实体，但本综述强调了每种罕见黑色素瘤的临床病理特征和治疗建议，并突出了现代疗法对它们各自的效用。
