One‐stop molecular classification of endometrial carcinoma using comprehensive next‐generation sequencing

子宫内膜癌 微卫星不稳定性 浆液性液体 医学 肿瘤科 浆液性癌 内科学 阶段(地层学) 队列 癌症 妇科 微卫星 基因 生物 卵巢癌 遗传学 古生物学 等位基因
作者
Yucong Li,Rui Chen,Mingming Yuan,Dong Wang,Chunling Fu,Rongrong Chen,Cuirong Lei,Qi Zhou
出处
期刊:International Journal of Cancer [Wiley]
卷期号:151 (11): 1969-1977 被引量:10
标识
DOI:10.1002/ijc.34241
摘要

Abstract This study aims to investigate the feasibility of molecular classification using only comprehensive next‐generation sequencing‐based techniques and its relationship with survival outcomes in patients with endometrial cancer. Paired tumor‐normal sequencing data of 1021 cancer‐related genes using tumor tissues or peripheral blood samples and clinical data were retrospectively collected from a cohort of endometrial cancers. The microsatellite instability status was inferred using the MSIsensor (v0.5) with a cut‐off of 8%. Sixty patients were classified into four groups: POLE MUT group (13.3%), MSI‐H group (20%), TP53 WT group (45%) and TP53 MUT group (21.7%). Patients within TP53 MUT group were more common in serous carcinoma compared to endometrioid carcinoma ( P = .0098). TP53WT was significantly correlated with early stage and low grade. TP53 MUT group was associated with significantly worse DFS compared to MSI‐H group and TP53 WT group ( P = .014 and .004, respectively). Comprehensive next‐generation sequencing is a reliable and simple method to stratify the prognosis of endometrial carcinoma. It can be potentially used to guide treatment of patients with endometrial cancer in routine practice.
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