RT Journal Article
SR Electronic
T1 Comprehensive Genomic Profiling Detects Hereditary Cancers and Confers Survival Advantage in Patients With Gynaecological Cancers
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 2091
OP 2101
DO 10.21873/anticanres.16370
VO 43
IS 5
A1 UEDA, TOMOKO
A1 TSUBAMOTO, HIROSHI
A1 TAKIMOTO, YUMI
A1 ISONO-TANIGUCHI, ROZE
A1 NARITA, SACHIYO
A1 NAKAGAWA, KOHEI
A1 WAKIMOTO, YU
A1 NISHIMURA, YUMIKO
A1 MUROI, YOSHIKO
A1 NAGAHASHI, MASAYUKI
A1 HIROTA, SEIICHI
A1 SAWAI, HIDEAKI
A1 SHIBAHARA, HIROAKI
YR 2023
UL http://ar.iiarjournals.org/content/43/5/2091.abstract
AB Background/Aim: 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. Patients and Methods: 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. Results: 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. Conclusion: 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.