神经母细胞瘤RAS病毒癌基因同源物
川东北117
旁侵犯
癌症研究
黑色素瘤
靶向治疗
无进展生存期
肿瘤科
医学
生物
内科学
突变
病理
总体生存率
癌症
基因
川地34
克拉斯
遗传学
干细胞
作者
D. Dias‐Santagata,M. Angélica Selim,Yanfei Su,Yan Peng,R T Vollmer,Agata Chłopik,Gemma Tell‐Martí,Kristen M. Paral,Sara C. Shalin,Christopher R. Shea,Susana Puig,María Teresa Fernández‐Figueras,Wojciech Biernat,Janusz Ryś,Andrzej Marszałek,Mai P. Hoang
摘要
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.
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