The research of the luekemogenesis in patients with DS-AMKL byusing CGH array

2012 Fiscal Year Final Research Report

• Project/Area Number: 22790974
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Nagoya University
• Principal Investigator: HAMA Asahito 名古屋大学, 医学系研究科, 助教 (30566964)
• Project Period (FY): 2010 – 2012
• Keywords: 急性巨核芽球性白血病 / ダウン症候群 / 一過性異常骨髄増殖症 / 染色体異常 / CGHアレイ / SNP アレイ / 小児 / GATA1

Research Abstract

To reveal the mechanism of the development from transient abnormal myelopoiesis (TAM) to acute megakaryoblastic leukemia (DS-AMKL) in children with Down syndrome, we analyzed these subgroups of patients (11 children with DS-AMKL, 12 children with non-DS-AMKL) by SNP array-based karyotyping and sequencing. Somatic gains were found in 7 DS-AMKL patients, while deletions were found in 8 DS-AMKL patients. Somatic gains were found in 7 non-DS-AMKL patients, while deletions were present in 5 patients. Mutational screen found GATA1mutations in 10/11 DS-AMKL, but mutations were rare in non-DS-AMKL (1/12).

Research Products

• [Journal Article] Molecular lesions in childhood and adult acute megakaryoblastic leukaemia (2012)
  • Author(s): Hama A, Muramatsu H, Makishima H, Sugimoto Y, Szpurka H, Jasek M, O'Keefe C, Takahashi Y, Sakaguchi H, DOI:saki S, Shimada A, Watanabe N, Kato K, Kiyoi H, Naoe T, Kojima S, Maciejewski JP
  • Journal Title: Br J Haematol Volume: 156 Pages: 316-325
  • Peer Reviewed
• [Presentation] Gene Alterations in Acute Megakaryoblastic Leukemia (AMKL): a Comparison of AMKL with and without Down Syndrome (2010)
  • Author(s): Hama A
  • Organizer: 52nd Annual Meeting of the American Society of Hematology
  • Place of Presentation: Orland, USA
  • Year and Date: 2010-12-07
• [Presentation] Gene alterations of acute megakaryoblastic leukemia(AMKL) with and without Down syndrome (2010)
  • Author(s): 濱 麻人
  • Organizer: 第72回日本血液学会学術集会
  • Place of Presentation: 横浜
  • Year and Date: 2010-09-25