Development of non-invasive diagnostic tools for childhood cancers using digital PCR

2015 Fiscal Year Final Research Report

• Project/Area Number: 26861483
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatric surgery
• Research Institution: Hiroshima University
• Principal Investigator: KURIHARA SHO 広島大学, 大学病院, 医科診療医 (40724894)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 癌 / 遺伝子 / 小児

Outline of Final Research Achievements

MYCN amplification was detected by digital PCR using of plasma DNA and bone marrow DNA samples derived from 23 neuroblastoma cases before treatment but became undetectable after surgery except for 6 cases with metastasis. ALK mutations in 2 neuroblastoma cases and CTNNB1 mutations in 3 hepatoblastoma cases were detected in plasma DNA at diagnosis but became undetectable more than 5 days after surgery. The library for 12 kinds of chimeric DNAs in small round cell tumors was designed. By the next generation sequencing using this library, chimeric genes were detected in 1 Ewing family tumor and 2 rhabdomyosarcomas but became undetecble after surgery. Plasma exosomes were concentrated and then microRNA was detected in these exosome samples in 4 cases.
These data suggested that digital PCR methods using blood sample is useful for diagnosis of childhood cancers.

Free Research Field

小児外科学