Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, U.S.A.
Duke University Medical Center, Durham, NC, U.S.A.
Br J Dermatol. 2017 Nov;177(5):1376-1384. doi: 10.1111/bjd.15836. Epub 2017 Nov 5.
Few studies have addressed prognostic markers and none has correlated molecular status and prognosis in vulvar melanomas.
To evaluate the clinicopathological features of 95 cases of vulvar melanoma.
p53, CD117, Ki-67, neurofibromin, brafv600e and nrasq61r immunostains, and molecular analyses by either targeted next-generation or direct sequencing, were performed on available archival materials.
Molecular testing detected mutations in KIT (44%), BRAF (25%), NF1 (22%), TP53 (17%), NRAS (9%) and TERT promoter (9%). Co-mutation of KIT and NF1 and of KIT and NRAS were identified in two and one cases, respectively. KIT mutations were significantly associated with better progression-free survival in univariate analyses. In multivariate analyses CD117 expression was significantly associated with better progression-free survival. Tumour thickness was significantly associated with worse progression-free and overall survival, and perineural invasion significantly correlated with reduced melanoma-specific survival and reduced overall survival. Cases were from multiple centres and only a subset of samples was available for molecular testing.
KIT mutations and CD117 overexpression are markers of better progression-free survival. In addition to its prognostic value, molecular testing may identify cases that might respond to targeted agents or immunotherapeutic approaches.
很少有研究涉及预后标志物，也没有研究将分子状态与外阴黑色素瘤的预后相关联。
评估 95 例外阴黑色素瘤的临床病理特征。
对可用的存档材料进行 p53、CD117、Ki-67、神经纤维瘤蛋白、brafv600e 和 nrasq61r 免疫染色，并通过靶向下一代或直接测序进行分子分析。
分子检测在外阴黑色素瘤中检测到 KIT（44%）、BRAF（25%）、NF1（22%）、TP53（17%）、NRAS（9%）和 TERT 启动子（9%）的突变。KIT 和 NF1 以及 KIT 和 NRAS 的共突变分别在两例和一例中发现。KIT 突变与单因素分析中的无进展生存期显著相关。多因素分析中，CD117 表达与无进展生存期显著相关。肿瘤厚度与无进展生存期和总生存期较差显著相关，神经周围侵犯与黑色素瘤特异性生存期和总生存期降低显著相关。病例来自多个中心，仅对部分样本进行了分子检测。
KIT 突变和 CD117 过表达是无进展生存期较好的标志物。除了具有预后价值外，分子检测还可能识别出可能对靶向药物或免疫治疗方法有反应的病例。
