全基因组分析（CGP）在妇科癌症患者中的临床效益尚不清楚。我们调查了CGP在评估患者存活及检测妇科患者遗传性癌症方面的效用。我们回顾性分析了104名妇科患者的病历，他们在2018年8月至2022年12月之间进行了CGP。评估了可行的和可获得的基因组变异及分子肿瘤委员会（MTB）推荐的靶向治疗的使用情况。比较接受MTB推荐的基因型匹配治疗和未接受治疗的患者在宫颈癌和子宫内膜癌二线治疗后以及卵巢癌铂类耐药性复发后的总体生存率。使用变异等位基因频率-肿瘤含量图来评估生殖系结果。在104名患者中，观察到53名患者存在可行的和可获得的基因组变异。21名患者接受了基因型匹配治疗，包括应用再利用伊曲康唑（n=7）、免疫检查点抑制剂（n=7）、聚(ADP核糖)聚合酶抑制剂（n=5）和其他药物（n=2）。接受和未接受基因型匹配治疗的患者的中位总体生存期分别为19.3个月和11.2个月（p= 0.036，风险比= 0.48）。在12例患有遗传性癌症的患者中，11例以前未被诊断出。7例患有遗传性乳腺和卵巢癌，而5例患有其他癌症。CGP测试的实施延长了妇科癌症的总体生存期，同时为新诊断的遗传性癌症患者及其家人提供了遗传咨询的机会。版权所有©2023 International Institute of Anticancer Research （Dr. George J. Delinasios）。

The clinical benefits of comprehensive genomic profiling (CGP) of tumours in patients with gynaecological cancers remain unknown. We investigated the utility of CGP in assessing patient survival and its efficacy in detecting hereditary cancers in gynaecological patients.We retrospectively analysed the medical records of 104 gynaecological patients who underwent CGP between August 2018 and December 2022. The detection of actionable and accessible genomic alterations and administration of targeted therapy, as recommended by the molecular tumour board (MTB), were assessed. The overall survival (after second-line treatment in cervical and endometrial carcinomas and after platinum-resistant recurrence in ovarian carcinoma) was compared between patients with or without administration of MTB-recommended genotype-matched therapy. Germline findings were assessed using a variant allele frequency-tumour content graph.Among 104 patients, actionable and accessible genomic alterations were observed in 53 patients. Matched therapy was applied in 21 patients, comprising administration of repurposing itraconazole (n=7), immune checkpoint inhibitors (n=7), poly (ADP-ribose) polymerase inhibitors (n=5), and others (n=2). The median overall survival of patients receiving and not receiving matched therapy were 19.3 months and 11.2 months, respectively (p=0.036, hazard ratio=0.48). Among 12 patients with hereditary cancers, 11 patients were previously undiagnosed. Seven patients had hereditary breast and ovarian cancer, and five had other cancer.The implementation of CGP testing prolonged overall survival in gynaecological cancer as well as provided an opportunity for genetic counselling for newly-diagnosed patients with hereditary cancers and their families.Copyright © 2023 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.