遺伝性大腸癌とがんゲノム医療—最新の動向

Latest Trends in Hereditary Colorectal Cancer and Cancer Genomic Medicine

要旨●遺伝性大腸癌で高頻度に認められるLynch症候群やポリポーシスの診断は，従来，家族歴や関連腫瘍の既往歴などの臨床情報からスクリーニングを行っていたが，最近では抗癌薬のコンパニオン診断で頻用されるMSI検査やがんゲノムプロファイリング検査の二次的所見から診断がつく場合が増えており，遺伝学的検査においても多遺伝子パネル検査（MGPT）が普及しつつある．2019年，がんゲノム医療が保険収載され，これまでに12万例以上のデータががんゲノム情報管理センター（C-CAT）に登録されている．がんゲノムプロファイリング検査による新規治療法の探索や遺伝性腫瘍を示唆する二次的所見から個別化した大腸癌の治療法の選択や遺伝性腫瘍のマネージメントがますます重要になってきている．

　Lynch syndrome and polyposis, frequently observed in hereditary colorectal cancer, are increasingly being diagnosed not only through traditional screening methods based on clinical information such as family history and past history of related tumors, but also through Microsatellite Instability（MSI）testing. These approaches are frequently used as companion diagnostics for anticancer drugs as well as secondary findings from cancer genome profile testing. Multi-gene panel testing（MGPT）is also becoming increasingly prevalent in genetic testing. Since the onset of insurance coverage for cancer genomic medicine in 2019, over 120,000 cases have been registered in Center for Cancer Genomics and Advanced Therapeutics（C-CAT）registration to date. The exploration of new treatments through cancer genomic profiling and the selection of personalized colorectal cancer therapies or hereditary tumor management based on secondary findings are gaining importance.