这项研究旨在调查分子分类和PTEN、KRAS和PIK3CA基因突变对子宫内膜样癌（EEC）和子宫内膜非典型增生（EAH）患者保育生育治疗结果的影响。这是一项单中心回顾性研究。回顾了接受保育生育治疗和分子分类的135名EEC和EAH患者。描述了四种分子分类的分布情况。分析了非特异性分子谱（NSMP）、错配修复缺陷（MMRd）以及PTEN、KRAS和PIK3CA基因突变对保育生育治疗结果的影响。在分析的患者中，86.7%（117/136）被归类为NSMP；14（10.4%）为MMRd；1（0.7%）是POLEmut EAH；3（2.2%）是p53abn EEC。具有NSMP和MMRd的患者实现了类似的16、32和48周完全缓解率。患有一级和二级PTEN突变（PTENmut-Clin）的患者比那些没有PTENmut-Clin（即PTEN其他类型）的患者实现了更低的32周累积CR率（22/47，46.8% vs. 50/74，67.6%，p=0.023，比值比=0.422，95%置信区间[CI]=0.199-0.896）。胰岛素抵抗（风险比[HR]=0.435，95% CI=0.269-0.702，p=0.001）和PTENmut-Clin（HR=0.535，95% CI=0.324-0.885，p=0.015）是低32周CR率的独立负面预测因子。PTENmut-Clin是EEC和EAH患者保育生育治疗不利结果的独立危险因素。接受保育生育治疗的MMRd患者的结果与NSMP患者类似。分子谱可能指导保育生育治疗的预后和临床决策。 © 2023年。亚洲妇科肿瘤学会、韩国妇科肿瘤学会和日本妇科肿瘤学会。

This study aimed to investigate the impact of molecular classification and PTEN, KRAS and PIK3CA gene mutation on the outcome of fertility-preserving treatment in the patients with endometrioid endometrial cancer (EEC) and endometrial atypical hyperplasia (EAH).This is a single-center retrospective study. A total of 135 patients with EEC and EAH receiving fertility-preserving treatment and molecular classification were reviewed. The distribution of the four types of molecular classification was described. The impact of non-specific molecular profile (NSMP), mismatch repair-deficiency (MMRd), and PTEN, KRAS and PIK3CA gene mutation on the outcome of fertility-preserving treatment was analyzed.Of the patients analyzed, 86.7% (117/136) were classified as having NSMP; 14 (10.4%), MMRd; 1 (0.7%), POLEmut EAH; and 3 (2.2%), p53abn EEC. The patients having NSMP and MMRd achieved similar 16-, 32-, and 48-week complete response rates. The patients harboring tier I and tier II PTEN mutations (PTENmut-Clin) achieved lower cumulative 32-week CR rates than those with PTEN-others (without PTENmut-Clin) (22/47, 46.8% vs. 50/74, 67.6%; p=0.023; odds ratio=0.422; 95% confidence interval [CI]=0.199-0.896). Insulin-resistance (hazard ratio [HR]=0.435; 95% CI=0.269-0.702; p=0.001) and PTENmut-Clin (HR=0.535; 95% CI=0.324-0.885; p=0.015) were independent negative predictors for lower 32-week CR rates.PTENmut-Clin is an independent risk factor for unfavorable fertility-preserving treatment outcomes in the patients with EEC and EAH. The patients with MMRd receiving fertility-preserving treatment achieved outcomes similar to those of the patients with NSMP. The molecular profiles might guide fertility-preserving treatment in the prognosis and clinical decisions.© 2023. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology, and Japan Society of Gynecologic Oncology.