The investigation into the leukemogenesis in patients with Down syndrome associated acute megakaryoblastic leukemia

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461579
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Nagoya University
• Principal Investigator: Hama Asahito 名古屋大学, 医学部附属病院, 講師 (30566964)
• Co-Investigator(Renkei-kenkyūsha): Ogawa Seishi 京都大学, 医学研究科, 教授 (60292900)
• Research Collaborator: Okuno Yusuke 名古屋大学, 医学部附属病院, 特任講師 (00725533)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: ダウン症 / 一過性異常骨髄増殖症 / 急性巨核芽球性白血病 / GATA1 / コヒーシン / CTCF / 次世代シークエンサー

Outline of Final Research Achievements

To reveal the mechanism of the development from transient abnormal myelopoiesis (TAM) to acute megakaryoblastic leukemia (AMKL) in neonates with Down syndrome (DS), we performed gene mutation analysis for blood of DS neanates using the next generation sequencing. Of 39 neonates with DS, 27 developed TAM. Out of them, 18 (67%) had GATA1 gene mutation in their blood. Out of 30 children with DS-AMKL, 26 (87%) had GATA1 gene mutation. In adiition, JAK3, p53, and RAD21 gene mutations were found in 3 children each.

Free Research Field

小児血液腫瘍学