Fortuna Ana, Amaral Teresa
Oncology Department, Centro Hospitalar Universitário do Algarve, Faro, Portugal.
Center for Dermatooncology, Department of Dermatology, Eberhard Karls University of Tübingen, Tübingen, Germany.
Front Oncol. 2024 Feb 26;14:1340408. doi: 10.3389/fonc.2024.1340408. eCollection 2024.
Acral and mucosal melanoma are uncommon variants of melanoma. Acral melanoma has an age-adjusted incidence of approximately 1.8 cases per million individuals per year, accounting for about 2% to 3% of all melanoma cases. On the other hand, mucosal melanoma, with an incidence of 2.2 cases per million per year, makes up around 1.3% of all melanoma cases. These melanomas, in addition to being biologically and clinically distinct from cutaneous melanoma, share certain clinical and pathologic characteristics. These include a more aggressive nature and a less favorable prognosis. Furthermore, they exhibit a different mutational pattern, with KIT mutations being more prevalent in acral and mucosal melanomas. This divergence in mutational patterns may partially account for the relatively poorer prognosis, particularly to immune checkpoint inhibitors. This review explores various aspects of acral and mucosal melanoma, including their clinical presentation, pathologic features, mutational profiles, current therapeutic approaches, outcomes associated with systemic therapy, and potential strategies to address resistance to existing treatments.
肢端和黏膜黑色素瘤是黑色素瘤的罕见变体。肢端黑色素瘤经年龄调整后的发病率约为每年每百万人口1.8例,占所有黑色素瘤病例的约2%至3%。另一方面,黏膜黑色素瘤的发病率为每年每百万人口2.2例,占所有黑色素瘤病例的约1.3%。这些黑色素瘤除了在生物学和临床上与皮肤黑色素瘤不同外,还具有某些临床和病理特征。这些特征包括更具侵袭性和预后较差。此外,它们表现出不同的突变模式,KIT突变在肢端和黏膜黑色素瘤中更为普遍。突变模式的这种差异可能部分解释了相对较差的预后,尤其是对免疫检查点抑制剂的反应。本综述探讨了肢端和黏膜黑色素瘤的各个方面,包括它们的临床表现、病理特征、突变谱、当前的治疗方法、全身治疗的结果以及应对现有治疗耐药性的潜在策略。