Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations

Br J Haematol. 2010 Jul;150(1):83-7. doi: 10.1111/j.1365-2141.2010.08196.x. Epub 2010 Apr 12.


Mutations in NF1, PTPN11, NRAS, KRAS and CBL have been reported to play a pathogenetic role in juvenile myelomonocytic leukaemia (JMML), a rare myelodyplastic/myeloproliferative neoplasm occurring in children. Recently, mutations in ASXL1 were identified in chronic myelomonocytic leukaemia and other myeloid malignancies. We sequenced exon 12 of ASLX1 in 49 JMML patients, and found 2 novel heterozygous (nonsense and frameshift) mutations, one occurring as a sole lesion, the other was in conjunction with a PTPN11 mutation. ASXL1 cooperates with KDM1A in transcriptional repression and thereby ASXL1 mutations may synergize with or mimic other JMML-related mutations.

MeSH terms

  • Child, Preschool
  • Codon, Nonsense
  • Female
  • Frameshift Mutation
  • Humans
  • Infant
  • Karyotyping
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Male
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
  • Repressor Proteins / genetics*


  • ASXL1 protein, human
  • Codon, Nonsense
  • Neoplasm Proteins
  • Repressor Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11