Feng Zheng, Wen Hao, Chen Yaqiong, Chen Xiaojun, Bi Rui, Wu Xiaohua, Li Jin, Ju Xingzhu
Department of Gynecological Oncology, Fudan University Shanghai Cancer Center, 270 Dong-an Road, Shanghai, 200032, China.
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Discov Oncol. 2024 Sep 18;15(1):461. doi: 10.1007/s12672-024-01344-y.
Endometrial cancer is stepping into the era of precision therapy. Genomic test is recommended for newly diagnostic patients. However, outpatients displayed more complex characteristics. Here, we elucidated the clinical characteristics and genomic profiling of outpatients with endometrial cancer at our institution.
Between 2018 and 2023, 68 endometrial cancer received genomic tests at outpatient department of Fudan University Shanghai Cancer Center. Data, including age, pathological histology, FIGO stage and treatment strategy were collected. Germline mutations, molecular subtypes and other somatic mutations were also summarized.
Overall, 72.1% (49/68) of patients receive genomic tests at primary diagnosis, while 27.9% (19/68) of patients received tests at recurrence. Nine patients had deleterious germline mutations, including BRCA1(2), MLH1(1), MSH2(2, including one with co-mutation of RAD50), MSH6(2), FANCA(1), MUTYH(1). Molecular subtypes were recognized among 62 patients, as POLE super-mutation(4, 6.5%), MSI-H(7, 11.3%), CN-Low(36, 58.1%) and CN-High(15, 24.2%). Ten patients received anti-PD1 monotherapy or in combination with chemotherapy or anti-angiogenic therapy, with the duration of disease control of 1 to 35 months. The ORR rate was 30%, and six patients had stable disease. The median (range) follow-up time was 18(2-160) months. 23(33.8%) relapses were recorded, and CN-High subtype displayed worst PFS compared with other subtypes (P < 0.01). 6 deaths were reported including 2(5.6%) of CN-Low and 4(26.7%) of CN-High.
Outpatients department gathered a considerable proportion of recurrent patients with complex genomic features. Patients with worse prognosis could be well studied, and anti-PD1 therapy was a promising salvage therapy in the real world.
子宫内膜癌正步入精准治疗时代。建议对新诊断患者进行基因检测。然而，门诊患者表现出更复杂的特征。在此，我们阐述了我院子宫内膜癌门诊患者的临床特征和基因图谱。
2018年至2023年期间，68例子宫内膜癌患者在复旦大学附属肿瘤医院门诊接受了基因检测。收集了包括年龄、病理组织学、国际妇产科联盟（FIGO）分期和治疗策略等数据。还总结了胚系突变、分子亚型和其他体细胞突变情况。
总体而言，72.1%（49/68）的患者在初次诊断时接受了基因检测，而27.9%（19/68）的患者在复发时接受了检测。9例患者存在有害胚系突变，包括BRCA1（2例）、MLH1（1例）、MSH2（2例，其中1例伴有RAD50共突变）、MSH6（2例）、FANCA（1例）、MUTYH（1例）。在62例患者中识别出分子亚型，分别为POLE超突变型（4例，6.5%）、微卫星高度不稳定（MSI-H）型（7例，11.3%）、拷贝数低（CN-Low）型（36例，58.1%）和拷贝数高（CN-High）型（15例，24.2%）。10例患者接受了抗PD-1单药治疗或联合化疗或抗血管生成治疗，疾病控制时间为1至35个月。客观缓解率为30%，6例患者病情稳定。中位（范围）随访时间为18（2-160）个月。记录到23例（33.8%）复发，与其他亚型相比，CN-High亚型的无进展生存期最差（P<0.01）。报告了6例死亡，包括CN-Low型2例（5.6%）和CN-High型4例（26.7%）。
门诊收集了相当比例具有复杂基因特征的复发患者。预后较差的患者值得深入研究，抗PD-1治疗在现实世界中是一种有前景的挽救治疗方法。
