Research for mechanism of hematological malignancies in rare syndrome in children

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K21376
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics; Hematology
• Research Institution: St. Luke's International University
• Principal Investigator: HIRABAYASHI Shinsuke 聖路加国際大学, 聖路加国際病院, 常勤嘱託 (50769635)
• Research Collaborator: MANABE Atsushi
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 希少症候群 / 造血器腫瘍

Outline of Final Research Achievements

Pathogenesis of hematological malignancies in rare syndromes is not clarified yet. In this study, we performed comprehensive genetic analysis of hematological malignancies associated with rare syndromes such as Maffucci syndrome and Pearson syndrome. In addition to the genetic abnormalities responsible for the syndrome, hematologic malignancy-specific genetic abnormalities have been elucidated. These syndromes were predisposed to cancer. The phenotype of the leukemia was different based on the acquired genetic abnormality.

Free Research Field

小児血液・腫瘍学

Academic Significance and Societal Importance of the Research Achievements

一般集団、希少症候群それぞれの造血器腫瘍の発赤機序を解明することは、それぞれの知見を用いて、相互に新たな解析、治療選択への応用が可能となる。本研究の成果により、Maffcci症候群やPearson症候群において、先天的な原因遺伝子異常を背景に、既知の造血器腫瘍特異的な遺伝子異常が加わることが確認された。今後、がん素因に配慮しつつ、それぞれの腫瘍に合わせた治療選択が可能となる。