[Clinical significance of molecular classification and hereditary phenotypic characteristics in endometrial carcinoma].

<b>Objective:</b> To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS). <b>Methods:</b> 97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP). Lynch syndrome related genes and <i>BRCA1/2</i> genes were detected by NGS and their genetic characteristics were analyzed. <b>Results:</b> Of the 97 EC cases, 77 were endometrial adenocarcinoma and 20 were other pathological subtypes. The proportions of the four molecular subtypes were 9.3% (9/97) POLE hypermutation, 16.5% (16/97) MSI-H, 17.5% (17/97) P53 abn and 56.7% (55/97) NSMP, respectively. There were significant differences in age, histological type, lymph node metastasis, pathological stage and other parameters among the four molecular types (<i>P</i>＜0.05). 8.2% (8/97) were multiple molecular typing and four multiple molecular typings detected, including POLEmut-MSI-H, POLEmut-P53abn, MSI-H-P53abn, P53abn-P53abn, which accounted for 1.0% (1/97), 3.1% (3/97), 1.0% (1/97) and 3.1% (3/97), respectively. The consistent rate of MSI-H and MMR protein expression was 92.9% (<i>Kappa</i>=0.818, <i>P</i>＜0.001). The coincidence rate between <i>TP53</i> gene sequencing and P53 protein expression was 88.9% (<i>Kappa</i>=0.661, <i>P</i>＜0.001). In MSI-H type, 25.0% (4/16) were diagnosed as Lynch syndrome, and 75.0% (12/16) were diagnosed as Lynch like syndrome. 7.2% (7/97) <i>BRCA2</i> somatic variation was detected, while <i>BRCA1/2</i> germline variation was not detected in 97 cases. <b>Conclusions:</b> EC molecular classification has feasibility and clinical value. High throughput sequencing can detect low frequency mutations of <i>TP53</i> gene, suggesting that it can provide more accurate molecular information and more accurate molecular typing effect. It is suggested to further detect Lynch syndrome related genes in patients with MSI-H, so as to carry out genetic management for patients and their families and achieve better therapeutic effect.