Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression

Br J Haematol. 2013 Oct;163(2):235-9. doi: 10.1111/bjh.12491. Epub 2013 Jul 24.

Abstract

Whole exome sequencing was performed in a patient with myelodysplastic syndrome before and after progression to acute myeloid leukaemia. Mutations in several genes, including SETBP1, were identified following leukaemic transformation. Screening of 328 patients with myeloid disorders revealed SETBP1 mutations in 14 patients (4·3%), 7 of whom had -7/del(7q) and 3 had i(17)(q10), cytogenetic markers associated with shortened overall survival and increased risk of leukaemic evolution. SETBP1 mutations were frequently acquired at the time of leukaemic evolution, coinciding with increase of leukaemic blasts. These data suggest that SETBP1 mutations may play a role in MDS and chronic myelomonocytic leukaemia disease progression.

Keywords: SETBP1; disease progression; mutation; myelodysplastic syndromes; whole exome sequencing.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Carrier Proteins / genetics*
  • Cell Transformation, Neoplastic / genetics
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7
  • Disease Progression
  • Exome
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Leukemia, Myelomonocytic, Chronic / genetics
  • Male
  • Mutation*
  • Myelodysplastic Syndromes / genetics*
  • Nuclear Proteins / genetics*
  • Recurrence

Substances

  • Biomarkers, Tumor
  • Carrier Proteins
  • Nuclear Proteins
  • SETBP1 protein, human