Identification of novel fusion gene in inflammatory myofibroblastic tumor

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K08669
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human pathology
• Research Institution: Kyushu University
• Principal Investigator: YAMAMOTO HIDETAKA 九州大学, 大学病院, 准教授 (30404073)
• Research Collaborator: Nosaki Yui
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 炎症性筋線維芽細胞腫瘍 / 融合遺伝子 / ALK / ROS1 / NTRK3 / 免疫組織化学染色

Outline of Final Research Achievements

We discovered ALK, ROS1 and NTRK3 gene fusions in approximately 60, 5 and 5% of inflammatory myofibroblastic tumor (IMT), respectively. In rare cases, immunohistochemical staining (IHC) with ALK1 antibody was negative but IHC with 5A4 antibody was positive, suggesting that ALK1 can cause false negative result of ALK expression. IMT with ETV6-NTRK3 gene fusion showed nuclear and cytoplasmic immunoreactivity for pan-Trk, suggesting a diagnostic utility of this antibody.

Free Research Field

人体病理学

Academic Significance and Societal Importance of the Research Achievements

IMTは炎症性病変と病理組織像が類似しているため鑑別診断がしばしば困難である。ALK, ROS1, NTRK3融合遺伝子の検出は診断的価値が高く、IMTの確定診断の精度を高めることが期待される。またALK, RO1, NTRK3 (pan-Trk)に対する免疫染色は、その融合遺伝子陽性例の簡便なスクリーニングとして有用であり、分子標的治療の対象となりうる患者の選択に役立つ可能性がある。