Terada Shinichi, Tanaka Tomohito, Hisamatsu Yoji, Kita Masato, Taki Mana, Yamanoi Koji, Fujita Hiroyuki, Kato Seiko, Kataoka Hisashi, Mori Taisuke, Nakai Hidekatsu, Matsumura Noriomi, Nishimura Hiroki, Amano Tsukuru, Masuko Naohisa, Terai Yoshito, Suruga Madoka, Murakami Makoto, Kobayashi Mariya, Nakagawa Satoshi, Matsumoto Hisanori, Fujikami Yusuke, Maeda Michihide, Kamiura Shoji, Nishikawa Kyohei, Fukui Yosuke, Ueda Tomoko, Tsubamoto Hiroshi, Ueno Sayaka, Shibutani Takashi, Teramoto Ayame, Mabuchi Yasushi, Ino Kazuhiko, Motoyama Takahito, Aoki Takuya, Nakazawa Ryo, Ito Fuminori, Terayama Nao, Kanemura Masanori, Sakurai Azusa, Takao Yumi, Ohmichi Masahide
Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7, Daigaku-machi, Takatsuki, Osaka, 569-0801, Japan.
Department of Obstetrics and Gynecology, Kansai Medical University, Hirakata, Osaka, Japan.
Int J Clin Oncol. 2025 Jul 22. doi: 10.1007/s10147-025-02835-w.
Comprehensive genomic profiling (CGP) has been used to identify mutations in several hundred cancer-related genes. Patients may receive treatment that targets specific genetic mutations revealed by CGP. This study aimed to investigate the usefulness of CGP in gynecologic malignancies.
Hospital records including CGP and clinical information were reviewed from 20 institutions in the Kinki District of Japan for patients with gynecological malignancies who underwent CGP.
A total of 724 patients were included, of whom 162 had cervical cancer, 157 had endometrial cancer, 327 had ovarian cancer, 29 had other cancers, and 49 had sarcomas. Actionable gene alterations were identified in 370 (51.1%). The most commonly altered genes were PIK3CA (14.4%), high loss of heterozygosity (12.4%), and high tumor mutation burden (10.9%). Matched therapy, based on actionable gene alterations, was administered to 73 patients (10.1%). Of these, 23 patients received matched therapy for a high tumor mutation burden, 10 for high microsatellite instability and BRCA1/2, six for ERBB2, and five for PIK3CA. Twenty-five patients died before receiving their CGP results. The objective response and disease control rates were 23.6% and 41.8%, respectively. Of the 122 patients to whom genetic counseling was recommended, 68 accepted.
CGP testing for gynecological malignancies in Japan may improve therapeutic efficacy. However, several issues remain to be addressed, including the low matched therapy rate and death prior to availability of CGP test results.
综合基因组分析（CGP）已被用于识别数百个癌症相关基因中的突变。患者可能会接受针对CGP所揭示的特定基因突变的治疗。本研究旨在探讨CGP在妇科恶性肿瘤中的应用价值。
回顾了日本近畿地区20家机构的医院记录，这些记录包括CGP和临床信息，涉及接受CGP检测的妇科恶性肿瘤患者。
共纳入724例患者，其中162例患有宫颈癌，157例患有子宫内膜癌，327例患有卵巢癌，29例患有其他癌症，49例患有肉瘤。在370例（51.1%）患者中发现了可 actionable基因改变。最常发生改变的基因是PIK3CA（14.4%）、高杂合性缺失（12.4%）和高肿瘤突变负荷（10.9%）。基于可 actionable基因改变，对73例患者（10.1%）进行了匹配治疗。其中，23例患者因高肿瘤突变负荷接受了匹配治疗，10例因高微卫星不稳定性和BRCA1/2接受治疗，6例因ERBB2接受治疗，5例因PIK3CA接受治疗。25例患者在收到CGP结果前死亡。客观缓解率和疾病控制率分别为23.6%和41.8%。在122例被建议进行遗传咨询的患者中，68例接受了咨询。
在日本，对妇科恶性肿瘤进行CGP检测可能会提高治疗效果。然而，仍有几个问题有待解决，包括匹配治疗率低以及在CGP检测结果出来之前患者死亡等问题。
