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Background <p>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.</p> Methods <p>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.</p> Results <p>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 <i>PIK3CA</i> (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 <i>BRCA1</i>/2, six for <i>ERBB2</i>, and five for <i>PIK3CA</i>. 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.</p> Conclusions <p>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.</p>

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Clinical utility and characteristics of comprehensive genomic profiling tests in patients with gynecologic cancer: a multi-institutional survey in Kinki District, Japan

  • 期刊论文

  • 发表日期：

    2025年7月22日

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  • Shinichi Terada,
  • Tomohito Tanaka,
  • Yoji Hisamatsu,
  • Masato Kita,
  • Mana Taki,
  • Koji Yamanoi,
  • Hiroyuki Fujita,
  • Seiko Kato,
  • Hisashi Kataoka,
  • Taisuke Mori,
  • Hidekatsu Nakai,
  • Noriomi Matsumura,
  • Hiroki Nishimura,
  • Tsukuru Amano,
  • Naohisa Masuko,
  • Yoshito Terai,
  • Madoka Suruga,
  • Makoto Murakami,
  • Mariya Kobayashi,
  • Satoshi Nakagawa,
  • Hisanori Matsumoto,
  • Yusuke Fujikami,
  • Michihide Maeda,
  • Shoji Kamiura,
  • Kyohei Nishikawa,
  • Yosuke Fukui,
  • Tomoko Ueda,
  • Hiroshi Tsubamoto,
  • Sayaka Ueno,
  • Takashi Shibutani,
  • Ayame Teramoto,
  • Yasushi Mabuchi,
  • Kazuhiko Ino,
  • Takahito Motoyama,
  • Takuya Aoki,
  • Ryo Nakazawa,
  • Fuminori Ito,
  • Nao Terayama,
  • Masanori Kanemura,
  • Azusa Sakurai,
  • Yumi Takao,
  • Masahide Ohmichi

摘要

Background

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.

Methods

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.

Results

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.

Conclusions

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.