Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, València, Spain.
Department of Dermatology, Fundación Instituto Valenciano de Oncología, València, Spain.
Eur J Dermatol. 2021 Dec 1;31(6):830-838. doi: 10.1684/ejd.2021.3971.
KIT mutations are primarily associated with acral and mucosal melanoma, and have been reported to show higher prevalence in chronic sun-damaged (CSD) than non-CSD melanomas.
To investigate the prevalence of KIT mutations in melanoma according to subtype, and determine the clinical role of such mutations.
MATERIALS & METHODS: We present results from a study of a Spanish population of 492 melanomas, classified according to the latest World Health Organization (WHO) guidelines. We analysed the mutational status of KIT and correlated with different clinical variables related to sun exposure and family history.
KIT mutations were significantly more frequent in acral (3/36; 8.3%) and mucosal (4/8; 50%) melanomas than non-acral cutaneous melanomas. No significant difference was observed in KIT mutational status between CSD and non-CSD melanomas.
Our results suggest that KIT mutations in melanoma tumours are unrelated to the development of nevi or chronic sun damage, but their presence is associated with aggressive melanomas which show ulceration, vascular invasiveness, and increased Breslow thickness. These findings are consistent with those reported by The Cancer Genome Atlas network.
KIT 突变主要与肢端和黏膜黑色素瘤相关，并且已报道在慢性日光损伤（CSD）比非 CSD 黑色素瘤中更为常见。
根据亚型研究黑色素瘤中 KIT 突变的发生率，并确定此类突变的临床作用。
我们呈现了一项针对西班牙 492 例黑色素瘤患者的研究结果，这些患者根据最新的世界卫生组织（WHO）指南进行了分类。我们分析了 KIT 的突变状态，并与与日光暴露和家族史相关的不同临床变量相关联。
KIT 突变在肢端（3/36；8.3%）和黏膜（4/8；50%）黑色素瘤中比非肢端皮肤黑色素瘤更为常见。CSD 和非 CSD 黑色素瘤之间 KIT 突变状态无显著差异。
我们的结果表明，黑色素瘤肿瘤中的 KIT 突变与痣或慢性日光损伤的发展无关，但它们的存在与具有溃疡、血管侵袭性和增加 Breslow 厚度的侵袭性黑色素瘤有关。这些发现与癌症基因组图谱网络报告的结果一致。
