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

Int J Cancer. 2022 Dec 1;151(11):1969-1977. doi: 10.1002/ijc.34241. Epub 2022 Aug 29.

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: POLEMUT group (13.3%), MSI-H group (20%), TP53WT group (45%) and TP53MUT group (21.7%). Patients within TP53MUT group were more common in serous carcinoma compared to endometrioid carcinoma (P = .0098). TP53WT was significantly correlated with early stage and low grade. TP53MUT group was associated with significantly worse DFS compared to MSI-H group and TP53WT 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.

Keywords: disease-free survival; endometrial carcinoma; molecular classification; next-generation sequencing; prognosis stratification.

MeSH terms

  • Biomarkers, Tumor / genetics
  • Carcinoma, Endometrioid* / genetics
  • Carcinoma, Endometrioid* / pathology
  • Endometrial Neoplasms* / pathology
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Microsatellite Instability
  • Mutation
  • Prognosis
  • Retrospective Studies

Substances

  • Biomarkers, Tumor