Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
State Key Lab of Molecular Oncology, Laboratory of Cell and Molecular Biology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Cancer Invest. 2024 Apr;42(4):297-308. doi: 10.1080/07357907.2024.2334249. Epub 2024 Apr 26.
Endometrioid endometrial carcinoma (EEC) stands as a prevalent gynecologic malignancy in developed regions. However, predicting relapse cases remains challenging, necessitating the identification of a novel biomarker for EEC relapse. The assessment of tumor mutational burden (TMB) is pivotal for immunotherapy in EEC patients. However, both whole-exome sequencing (WES) and targeted sequencing encountered application-related difficulties. In light of this, standardized and simplified techniques for TMB measurement are imperative. In this study, we employed WES on 25 EEC patients (12 relapsed cases and 13 non-relapsed cases) who accepted hysterectomy surgery (CHCAMS cohort). We additionally obtained a total of 391 tumor samples with clinicopathological features from TCGA website to broaden the study cohort. In the CHCAMS cohort, the mutant group showed shorter progression-free survival ( < 0.001) and overall survival ( < 0.001) than wild-type group. Additionally, we discovered that the number of mutations per sample was significantly linked with TMB-WES in CHCAMS cohort and TCGA cohort ( < 0.05). And the number of mutations per sample in mutant group was greater than in the wild-type group ( < 0.0001). In conclusion, mutation may serve as a biomarker for EEC prognosis. mutation is also associated with WES-TMB, and could be a simplified TMB measurement technique.
子宫内膜样腺癌（EEC）是发达国家常见的妇科恶性肿瘤。然而，预测复发病例仍然具有挑战性，因此需要寻找 EEC 复发的新生物标志物。肿瘤突变负荷（TMB）评估对 EEC 患者的免疫治疗至关重要。然而，全外显子组测序（WES）和靶向测序都遇到了应用相关的困难。有鉴于此，TMB 测量的标准化和简化技术势在必行。在这项研究中，我们对 25 名接受子宫切除术（CHCAMS 队列）的 EEC 患者（12 例复发和 13 例非复发）进行了 WES 检测。此外，我们还从 TCGA 网站获得了总共 391 个具有临床病理特征的肿瘤样本，以扩大研究队列。在 CHCAMS 队列中， 突变组的无进展生存期（ < 0.001）和总生存期（ < 0.001）均短于 野生型组。此外，我们发现 CHCAMS 队列和 TCGA 队列中每个样本的 突变数与 WES-TMB 显著相关（ < 0.05）。并且， 突变组每个样本的 突变数大于 野生型组（ < 0.0001）。总之， 突变可能是 EEC 预后的生物标志物。 突变与 WES-TMB 相关，可能是一种简化的 TMB 测量技术。
