肢端黑色素瘤中 BRAF、KIT 和 NRAS 基因突变。
BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients.
机构信息
Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
Laboratory of Oncologic and Transplantation Molecular Pathology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
出版信息
Am J Clin Pathol. 2020 Apr 15;153(5):664-671. doi: 10.1093/ajcp/aqz209.
OBJECTIVES
Malignant acral melanoma (AM) is relatively infrequent in white patients. Molecular investigations have returned variable results regarding the mutational pattern. We sought to describe the mutation profile and clinicopathologic features of AM.
METHODS
We investigated BRAF, KIT, and NRAS mutational status in a series of 31 AM samples from white patients.
RESULTS
Nodular melanoma was the most common histopathologic subtype (48.4%), followed by acral lentiginous melanoma (25.8%) and superficial spreading melanoma (25.8%). BRAF, KIT, and NRAS mutational rates were 12.9%, 17.2%, and 30.0%, respectively. We observed significant associations between KIT mutational status and a thinner Breslow thickness compared with wild-type (WT) status (P = .002), NRAS mutation status and younger age compared with WT. In patients presenting at least one mutation, triple-WT patients presented metastases most frequently.
CONCLUSIONS
Although these data represent preliminary results, better knowledge of tumor biology and prognosis of AM can support the clinical approach and follow-up.
目的
恶性肢端黑色素瘤（AM）在白人患者中相对少见。分子研究对突变模式的结果存在差异。我们旨在描述 AM 的突变谱和临床病理特征。
方法
我们研究了 31 例白人 AM 样本中 BRAF、KIT 和 NRAS 的突变状态。
结果
结节性黑色素瘤是最常见的组织病理学亚型（48.4%），其次是肢端雀斑样黑色素瘤（25.8%）和浅表扩散性黑色素瘤（25.8%）。BRAF、KIT 和 NRAS 的突变率分别为 12.9%、17.2%和 30.0%。我们观察到 KIT 突变状态与 Breslow 厚度较野生型（WT）薄之间存在显著关联（P=0.002），NRAS 突变状态与 WT 相比与年轻年龄相关。在至少有一个突变的患者中，三重 WT 患者最常出现转移。
结论
尽管这些数据代表初步结果，但对 AM 的肿瘤生物学和预后的更好了解可以支持临床方法和随访。
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