دورية أكاديمية

TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden.

التفاصيل البيبلوغرافية
العنوان: TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden.
المؤلفون: Li, Lihong, Yue, Pinli, Zhu, Jiarun, Li, Luyuan, Wang, Kaipeng, Yuan, Guangwen, Song, Yan
المصدر: Cancer Investigation; Apr2024, Vol. 42 Issue 4, p297-308, 12p
مصطلحات موضوعية: HYSTERECTOMY, CANCER relapse, RESEARCH funding, IMMUNOTHERAPY, EVALUATION of medical care, CANCER patients, TUMOR markers, DESCRIPTIVE statistics, ENDOMETRIAL tumors, LONGITUDINAL method, IMMUNE checkpoint inhibitors, GENE expression profiling, GENETIC mutation, PROGRESSION-free survival, SEQUENCE analysis, OVERALL survival
مستخلص: 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 TTN mutant group showed shorter progression-free survival (p < 0.001) and overall survival (p < 0.001) than TTN wild-type group. Additionally, we discovered that the number of TTN mutations per sample was significantly linked with TMB-WES in CHCAMS cohort and TCGA cohort (p < 0.05). And the number of TTN mutations per sample in POLE mutant group was greater than in the POLE wild-type group (p < 0.0001). In conclusion, TTN mutation may serve as a biomarker for EEC prognosis. TTN mutation is also associated with WES-TMB, and could be a simplified TMB measurement technique. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:07357907
DOI:10.1080/07357907.2024.2334249