Clinical utility and characteristics of comprehensive genomic profiling tests in patients with gynecologic cancer: a multi-institutional survey in Kinki District, Japan.
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Abstract
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.
期刊介绍：
The International Journal of Clinical Oncology (IJCO) welcomes original research papers on all aspects of clinical oncology that report the results of novel and timely investigations. Reports on clinical trials are encouraged. Experimental studies will also be accepted if they have obvious relevance to clinical oncology. Membership in the Japan Society of Clinical Oncology is not a prerequisite for submission to the journal. Papers are received on the understanding that: their contents have not been published in whole or in part elsewhere; that they are subject to peer review by at least two referees and the Editors, and to editorial revision of the language and contents; and that the Editors are responsible for their acceptance, rejection, and order of publication.
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