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2019 Fiscal Year Final Research Report

Non-invasive diagnostic methods using digital PCR for childhood cancers

Research Project

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Project/Area Number 17K17002
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatric surgery
Research InstitutionHiroshima University

Principal Investigator

Kurihara Sho  広島大学, 医系科学研究科(医), 助教 (40724894)

Project Period (FY) 2017-04-01 – 2020-03-31
Keywordsリキッドバイオプシー / デジタルPCR / 遊離DNA / マイクロRNA / 小児がん / 診断 / 治療効果判定 / 再発マーカー
Outline of Final Research Achievements

The MYCN amplification and ALK mutations in neuroblastoma, β-catenin gene aberrations in hepatoblastoma, and chimeric genes in alveolar rhabdomyosarcoma and Ewing family sarcomas were detectable by digital PCR methods using cell-free DNA in the serum samples of approximately 100 cases of childhood solid malignant tumors. In neuroblastoma, specific miRNAs correlated with malignant grade were also detectable. In particular, the sensitivity and specificity of MYCN amplification and β-catenin gene mutations using digital PCR were high, and these might be extremely useful not only for diagnosis but also for evaluation of therapeutic efficiency and monitoring of recurrence.

Free Research Field

小児外科

Academic Significance and Societal Importance of the Research Achievements

小児腫瘍では、腫瘍特性の診断や悪性度判定は治療に不可欠であり、従来は、腫瘍生検にて腫瘍細胞を採取して検討されてきた。しかし、小児に対する腫瘍生検は全身麻酔が必要でさらに、部位により必ずしも容易でない。そのために、今回の研究によって血中や体液中遊離DNAを用いた非侵襲的検査によるリキッドバイオプシーにて診断や予後予測が可能となった重要性は大きい。こうしたリキッドバイオプシーは、今後臨床応用に向けて臨床試験などへの導入が望まれる。

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Published: 2021-02-19  

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