Next generation sequencing-based molecular detection of tumor-type specific fusion genes in bone and soft tissue tumors

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08389
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human pathology
• Research Institution: University of Occupational and Environmental Health, Japan
• Principal Investigator: HISAOKA Masanori 産業医科大学, 医学部, 教授 (40218706)
• Co-Investigator(Kenkyū-buntansha): 松山 篤二 産業医科大学, 大学病院, 講師 (80351021)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 骨軟部腫瘍 / 融合遺伝子 / 次世代シークエンス / RT-PCR / FISH / FFPE

Outline of Final Research Achievements

Our initial attempt to detect tumor type-specific fusion genes by next generation sequencing (NGS) was unsuccessful when we used ordinary formalin-fixed, paraffin-embedded (FFPE) bone and soft tissue tumors. The result suggested that FFPE tumor tissue is not suitable for such a state-of-the-art molecular analysis. We, therefore, subjected snap frozen tumor tissues to NGS, and could identify a few unique fusion genes (i.e. PAX3-MAMAL, etc) that had been unpredictable. Subsequent clinicopathologic and molecular analyses of accumulated tumor samples harboring the identical genetic alternations demonstrated some clinicopathologic diversities in such tumors. Thus, we believe that NGS is a potentially useful molecular technique as a diagnostic adjunct of bone and soft tissue tumors.

Free Research Field

人体病理学