Genetic analysis of pediatric and familial tumors - Development of screening methods

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K16239
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: University of Tsukuba
• Principal Investigator: Fukushima Hiroko 筑波大学, 医学医療系, 講師 (30624986)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 小児がん / 胚細胞系列遺伝子解析 / 発がん関連遺伝子

Outline of Final Research Achievements

Dozens of familial cancers have been reported and are useful with respect to patients and disease groups for which genetic mutations have been identified It presents a variety of screening and treatment methods. There have been no reports of this drug in Japanese pediatric cancer patients and no clinical applications have been realized. Patients diagnosed with pediatric and familial cancers were subjected to embryonic cell lineage genetic analysis (44-132 (Targeted lethality of cancer-related genes). We analyzed 190 patients with pediatric and familial cancers and familial tumors. The average number of rare variants per patient is 49. Of the total analysis, there are 16 nonsense variants and 16 in/del variants A total of 35 cells and 11 splice site variants were detected.

Free Research Field

小児がん、人類遺伝

Academic Significance and Societal Importance of the Research Achievements

本研究によってはじめて日本人小児がん・家族性腫瘍患者におけるバリアント保有の概要が示された。一方で、過去に同様の報告がないことから、今後の知識の蓄積が肝要となり、実際の患者の臨床像と比較し、検出されたバリアントが真に病的であるかの検討を行っていく必要がある。また、バリアントが検出された患者では今後特有の発がんスクリーニングを計画していくなどの方策が考えられる。これによって、発がんを初期段階で検出し、治癒することが可能となり、長期生存、QOLが保たれる。