CLIN CANCER RES:根据外阴癌遗传特征定义具有预后意义的分子亚型

2017-11-16 MedSci MedSci原创

外阴癌可以通过HPV状态进行分型。HPC阴性的外阴癌通常存在TP53突变。但是尚缺乏对其他可能的基因突变的深度分析。CLIN CANCER RES近期发表了一篇文章,研究大样本外阴癌的体细胞突变情况。

外阴癌可以通过HPV状态进行分型。HPC阴性的外阴癌通常存在TP53突变。但是尚缺乏对其他可能的基因突变的深度分析。CLIN CANCER RES近期发表了一篇文章,研究大样本外阴癌的体细胞突变情况。作者在36例外阴癌及82例癌前病变的患者中进行二代基因测序(17个基因),p53免疫组化和HPV检测。后续在236例外阴癌患者中评估通过测序鉴定的3个亚型的预后意义。研究结果表明,HPV阴性外阴癌及癌前病变最常见的突变为TP53,NOTCH1和HRAS。HPV阳性外阴癌突变率显着降低。有一部分HPV阴性的外阴癌或癌前病变是TP53野生型,是第三种之前未描述过的分子亚型。对3种不同亚型(HPV+,HPV-/p53wt,HPV-/p53abn)患者进行随访。HPV+局部复发率为5.3%,HPV-/p53wt局部复发率为16.3%,HPV-/p53abn局部复发率为22.6%。多因素分析表明HPV阳性是良好预后的独立预测因素。文章最后认为,HPV-和HPV+外阴癌体细胞突变状态显着不同。HPV-/p53wt是一种新的临床病理亚型,常伴NOTCH1突变。HPV+外阴癌局部复发率更低,为今后外阴癌避

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