Melanoma is a highly heterogeneous disease, with unique genetic subtypes that influence clinical behavior and treatment response. While targeted therapies and immunotherapy have transformed care for more common types of melanoma, optimal strategies forKIT-mutant melanoma are less well-defined. In this review, we summarize the associations betweenKITmutations and specific clinico-pathologic patterns, including their enrichment in acral, mucosal, and chronically sun-damaged melanomas. We detail the spectrum ofKITmutations across relevant exons, noting how mutation subtype influences sensitivity to targeted therapies. We will then analyze several therapeutic trials and case reports that describe the use of c-KIT inhibitors as well as immune checkpoint inhibitors in melanoma treatment. We also discuss early findings supporting combination strategies that may enhance therapeutic outcomes. Finally, we identify critical gaps in understanding the mechanisms of resistance, CNS progression, and the immunogenic landscape ofKIT-driven melanoma. Deeper insight into the function of KIT and its interaction with therapeutic pathways is essential to optimizing treatment sequencing and tailoring personalized strategies that improve outcomes in this patient population.
黑色素瘤是一种高度异质性疾病，其独特的遗传亚型会影响临床行为和治疗反应。虽然靶向治疗和免疫疗法已经改变了常见类型黑色素瘤的治疗模式，但针对KIT突变型黑色素瘤的最佳治疗策略尚未明确。本文综述了KIT突变与特定临床病理模式之间的关联，包括其在肢端型、黏膜型和慢性日光损伤型黑色素瘤中的富集现象。我们详细阐述了相关外显子中KIT突变的谱系，并指出突变亚型如何影响对靶向治疗的敏感性。随后，我们将分析多项描述c-KIT抑制剂及免疫检查点抑制剂在黑色素瘤治疗中应用的临床试验和病例报告，同时探讨支持联合治疗策略可能提升疗效的早期发现。最后，我们指出了当前对KIT驱动型黑色素瘤的耐药机制、中枢神经系统进展及免疫微环境认知的重要空白。深入理解KIT的功能及其与治疗通路的相互作用，对于优化治疗顺序、制定个体化策略以改善该患者群体的预后至关重要。
KIT-Mutant Melanoma: Understanding the Pathway to Personalized Therapy
肿瘤(癌症)患者之家