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. 2021 Mar;14(3):101010.
doi: 10.1016/j.tranon.2021.101010. Epub 2021 Jan 12.

VSports - Clinical relevance of oncogenic driver mutations identified in endometrial carcinoma

Takafumi Watanabe  1 , Hideaki Nanamiya  2 , Manabu Kojima  3 , Shinji Nomura  3 , Shigenori Furukawa  3 , Shu Soeda  3 , Daisuke Tanaka  2 , Takao Isogai  2 , Jun-Ichi Imai  2 , Shinya Watanabe  2 , Keiya Fujimori  3
Affiliations

Clinical relevance of oncogenic driver mutations identified in endometrial carcinoma (V体育官网)

V体育官网 - Takafumi Watanabe et al. Transl Oncol. 2021 Mar.

Abstract

Purpose: Endometrial carcinoma (EC) is a clinically heterogeneous disease characterized by a number of different histological subtypes, and its heterogeneity may be involved in the accumulation of multiple genetic alterations. The aim of this work was to investigate the comprehensive mutational profile of EC tumors, and examine the associations between somatic mutations and clinicopathological features or survival in EC patients VSports手机版. .

Methods: A total of 100 surgical tumors were obtained from EC patients who had previously undergone surgery. Genomic DNA samples extracted from fresh-frozen tissues were analyzed using the Ion AmpliSeq Cancer Hotspot Panel v2 Kit, covering 50 tumor-related genes V体育安卓版. .

Results: Validated mutations were detected in 91 of the 100 tumors (91%) and identified in eight of the most frequently mutated genes, namely PTEN (57%), PIK3CA (51%), TP53 (30%), KRAS (23%), CTNNB1 (21%), FBFR2 (13%), FBXW7(10%) and RB1 (9%). PTEN mutations were found to associated with young age (< 60), early-stage, endometrioid histology, non-recurrence and better overall survival (OS). CTNNB1 mutations were associated with young age, endometrioid histology and better OS. On the other hands, TP53 mutations were associated with late-stage, non-endometrioid histology, high-grade, recurrence and worse OS. FBWX7 mutations were associated with late-stage, vascular invasion and lymph node metastasis. FGFR2 mutations correlated with deep (≥ 1/2) myometrial invasion. V体育ios版.

Conclusion: Our comprehensive mutational profile will be useful for understanding and evaluating the molecular characteristics of EC tumors, and may lead to the establishment of novel treatment strategies that improve the survival of patients with EC in the future. VSports最新版本.

Keywords: Clinical molecular genetics; Endometrial carcinoma; Prognostic biomarker; Somatic mutations V体育平台登录. .

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Summary of the relationships between somatic mutations and histological characteristics of endometrial cancer. All panels are aligned with vertical tracks representing 100 individuals.
Fig. 2
Fig. 2
Box plot showing differences in mutation frequency between (a) < 60 and ≥ 60 (P = 0.003). (b) Grade 1 + 2 and Grade 3 (P = 0.005). (c) EEC and NEEC (P = 0.03). EEC: endometrial endometrioid carcinoma, NEEC: non-endometrial endometrioid carcinoma
Fig.3
Fig. 3
The Kaplan–Meier curves of overall survival in patients with endometrial cancer. (a) Patients with and without PTEN mutations (P = 0.019). (b) Patients with and without CTNNB1 mutations (P = 0.033). (c) Patients with and without TP53 mutations (P = 0.001).
See this image and copyright information in PMC

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