講演情報

[P26-14]乳癌患者に対するがん遺伝子パネル検査の有用性

橋本 直樹, 井川 明子 (青森県立中央病院 がん診療センター 乳腺外科)
Backgraound: From 2019, cancer genome medicine using cancer gene panel testing has been underwent covered by public health insurance. It is necessary to verify whether the genetic panel has actually led to effective treatment. Methods: At the time standard treatment has ended or is expected to be completed, cancer gene panel testing has offered. If consent is obtained, we consult with the Department of Clinical Genetics of our hospital about genetic counseling. The examination is conducted, the physician participate in the expert panel. Results: From July 2019 to February 2022, 15 patients with metastatic breast cancer underwent cancer gene panel testing. Thirteen patients (87%) presented with metastatic recurrence, and 2 (13%) with de novo metastatic breast cancer. ER positive HER2 negative (luminal type) in 10 cases (67%), ER negative HER2 negative (triple negative type) in 4 case (27%), ER positive HER2 positive (luminal HER2 type) in 1 case (7%). The time to recurrence is 2.5 ± 1.7 years (0-5.2). Nine patients (60%) had visceral disease. Ten patients (67%) underwent FoundationOne CDx Cancer Genome Profile and 5 cases (33%) OncoGuide NCC Oncopanel System. In all cases, gene mutations were detected, with FGFR1 in 4 cases (27%), PIK3CA in 4 cases (27%), ESR1 in 3 cases (20%), and AKT in 2 cases (13%). Based on actionable mutations, 5 patients (33%) received matched therapy included mTOR inhibitors and cyclin-dependent kinase 4 and 6 inhibitors. Conclusion: Many oncogene mutations were found in the oncogene panel, but few cases were actually reflected in the treatment.