Genetic characterization of unclassifiable small round cell sarcomas

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K19065
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human pathology
• Research Institution: National Cancer Center Japan
• Principal Investigator: YOSHIDA AKIHIKO 国立研究開発法人国立がん研究センター, 中央病院, 医員 (80574780)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 肉腫 / 分類 / 遺伝子変異 / 融合遺伝子 / 病理診断

Outline of Final Research Achievements

Small round cell sarcoma is a diagnostic category that encompasses a variety of sarcoma entities which share predominantly small round-shaped tumor cytology. Most small round cell sarcomas are readily classifiable; however, approximately 5-10% of tumors defy definitive classification based on the present nosologic scheme. These unclassifiable small round cell sarcomas are hypothesized to consist of multiple distinct entities, each of which should be recognized and treated by specific strategy. In this study, we first identified a number of unclassifiable small round cell sarcomas in our archive, and then analyzed them by using clinicopathological and molecular methods including next generation sequencing. We identified a relatively large series of novel entities such as CIC-rearranged sarcoma and SMARCA4-deficient thoracic sarcoma, and characterized them in detail to better understand these under-recognized malignancies.

Free Research Field

病理診断学