Format

Send to:

Choose Destination
See comment in PubMed Commons below
Br J Haematol. 2013 Oct;163(2):235-9. doi: 10.1111/bjh.12491. Epub 2013 Jul 24.

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

Author information

  • 1LLR Molecular Haematology Unit, NDCLS, RDM, John Radcliffe Hospital, Oxford, UK.

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.

© 2013 John Wiley & Sons Ltd.

KEYWORDS:

SETBP1; disease progression; mutation; myelodysplastic syndromes; whole exome sequencing

PMID:
23889083
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk