Genome analysis during recurrence of urothelial cancer

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K11136
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Urology
• Research Institution: Kobe University
• Principal Investigator: Hinata Nobuyuki 神戸大学, 医学研究科, 特命准教授 (10598816)
• Co-Investigator(Kenkyū-buntansha): 岡村 泰義 神戸大学, 医学部附属病院, 医員 (90806100)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 尿路上皮癌 / 管腔内再発 / エクソーム解析 / 再発予防

Outline of Final Research Achievements

All exome analysis was performed on 4 cases, 4 samples at the first onset, and 5 samples at the time of recurrence (including 1 case relapse). The average depth of the specimen was 117 and 12046 SNVs were identified on average. The common SNVs in the first and recurrent cases were 10683 on average in 4 cases, and it is considered that they have the same origin from the phylogenetic tree analysis, but this analysis alone cannot conclude either seeding or multicentric development It was Many gene mutations reported in The Cancer Genome Atlas were also found. FAM8A1, HLA-DRB1, HLA-DRB5, HRNR, NBPF1, NBPF10, NBPF20, and PABPC3 were found as common mutated genes in recurrent cases.

Free Research Field

泌尿器科学

Academic Significance and Societal Importance of the Research Achievements

本解析のみでは再発の起源が播種か多中心性発生かを結論づけることはできなかったが、再発症例に共通してみられる変異遺伝子としてFAM8A1、HLA-DRB1、HLA-DRB5、HRNR、NBPF1、NBPF10、NBPF20、PABPC3を同定した。今後は引き続き症例を増やしての検討を行うとともに、同定された変異遺伝子再発に及ぼす機序の解明により、新規治療ターゲットとなるゲノム変異を特定する。