肝門部胆管癌根治切除症例のうちDNA抽出を成功した全77例を解析した。NGSを用いて遺伝子配列を調べ、遺伝子変異を同定した。結果38種の遺伝子変異（のべ138変異）を同定した。病理学的に異なるとされる肝内胆管癌肝門部浸潤と大型胆管由来の肝門部胆管癌には遺伝子変異にある一定の傾向があった。胆道癌の共通ドライバー遺伝子とされるBRCA2, ERBB2, TP53については既報と同様の変異率であったがこれらと病理学的因子や予後因子に相関を認めなかった。しかし上記遺伝子異常に別の新規遺伝子異常の組み合わせが予後予測因子になりえる可能性が示唆された。これら新たな知見をまとめ現在論文作成中である。
We analyzed all 77 radical resection sample from patients with hilar cholangiocarcinoma with successful DNA extractions. Gene sequences were sequenced using NGS to identify gene mutations. 38 gene mutations (138 mutations in total) were identified. Intrahepatic cholangiocarcinoma with hilar invasion and hilar cholangiocarcinoma derived from the large bile duct had a certain tendency for gene mutation. In addition, analysis by pathological factors revealed a significant difference between vascular infiltration and gene mutation, and lymphatic infiltration and lymph node metastasis and gene mutation. BRACA2, ERBB2, and TP53, which are common driver genes for biliary tract cancer, had the same mutation rates as previously reported, however, these were not correlate with pathological factors or prognostic factors. From our results, it was suggested that a combination of some genetic abnormalities could be a predictor of prognosis.
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