臨床婦人科産科76巻3号

2022年04月発行

今月の臨床 がん遺伝子検査に基づく婦人科がん治療―最前線のレジメン選択法を理解する 遺伝子診断

がん遺伝子検査の種類と適切な時期

著者： 仲尾岳大¹² 原野謙一¹²

所属機関： ¹国立がん研究センター東病院先端医療科 ²国立がん研究センター東病院腫瘍内科

ページ範囲：P.310 - P.315

●近年，遺伝子検査はより身近となってきており，特定の治療薬の効果予測を目的としたコンパニオン診断が一般化されてきている．

●婦人科で一般化されている遺伝子検査に，BRCA1/2変異，HRD，MSI，NTRK融合遺伝子，遺伝子パネル検査がある．

●BRCA1/2変異，HRDは卵巣がん初回治療に関連し，MSI，NTRK融合遺伝子，遺伝子パネル検査は標準治療終了後または見込みに適応がある．

参考文献

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6）Telli ML, et al : Homologous recombination deficiency（HRD）score predicts response to platinum-containing neoadjuvant chemotherapy in patients with triple-negative breast cancer. Clin Cancer Res 22 : 3764-3773, 2016

7）Ray-Coquard I, et al : Olaparib plus bevacizumab as first-line maintenance in ovarian cancer. N Engl J Med 381 : 2416-2428, 2019

8）Le DT, et al : Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357 : 409-413, 2017

9）Marabelle A, et al : Efficacy of pembrolizumab in patients with noncolorectal high microsatellite instability/mismatch repair-deficient cancer : results from the phase II KEYNOTE-158 Study. J Clin Oncol 38 : 1-10, 2020

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11）Okamura R, et al : Analysis of NTRK alterations in pan-cancer adult and pediatric malignancies : implications for NTRK-targeted therapeutics. JCO Precis Oncol 2018 : PO, 18, 00183, 2018

12）Chiang S, et al : NTRK fusions define a novel uterine sarcoma subtype with features of fibrosarcoma. Am J Surg Pathol 42 : 791-798, 2018

13）Doebele RC, et al : Entrectinib in patients with advanced or metastatic NTRK fusion-positive solid tumours : integrated analysis of three phase 1-2 trials. Lancet Oncol 21 : 271-282, 2020