Molecular lesions in childhood and adult acute megakaryoblastic leukaemia

Asahito Hama, Hideki Muramatsu, Hideki Makishima, Yuka Sugimoto, Hadrian Szpurka, Monika Jasek, Christine O'Keefe, Yoshiyuki Takahashi, Hirotoshi Sakaguchi, Sayoko Doisaki, Akira Shimada, Nobuhiro Watanabe, Koji Kato, Hitoshi Kiyoi, Tomoki Naoe, Seiji Kojima, Jaroslaw P. Maciejewski

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


While acute megakaryoblastic leukaemia (AMKL) occurs in children with (DS-AMKL) and without (paediatric non-DS-AMKL) Down syndrome, it can also affect adults without DS (adult non-DS-AMKL). We have analysed these subgroups of patients (11 children with DS-AMKL, 12 children and four adults with non-DS-AMKL) for the presence of molecular lesions, including mutations and chromosomal abnormalities studied by sequencing and single nucleotide polymorphism array-based karyotyping, respectively. In children, AMKL was associated with trisomy 21 (somatic in non-DS-AMKL), while numerical aberrations of chromosome 21 were only rarely associated with adult AMKL. DS-AMKL was also associated with recurrent somatic gains of 1q (4/11 DS-AMKL patients). In contrast to trisomy 21 and gains of 1q, other additional chromosomal lesions were evenly distributed between children and adults with AMKL. A mutational screen found GATA1 mutations in 11/12 DS-AMKL, but mutations were rare in paediatric non-DS-AMKL (1/12) and adult AMKL (0/4). JAK3 (1/11), JAK2 (1/11), and TP53 mutations (1/11) were found only in patients with DS-AMKL. ASXL1, IDH1/2, DNMT3A, RUNX1 and CBL mutations were not found in any of the patient group studied, while NRAS mutation was identified in two patients with paediatric non-DS-AMKL.

Original languageEnglish
Pages (from-to)316-325
Number of pages10
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - Feb 2012
Externally publishedYes


  • Acute megakaryoblastic leukaemia
  • Children
  • Chromosome abnormality
  • Down syndrome
  • Single nucleotide polymorphism array

ASJC Scopus subject areas

  • Hematology


Dive into the research topics of 'Molecular lesions in childhood and adult acute megakaryoblastic leukaemia'. Together they form a unique fingerprint.

Cite this