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

  • Fernandez-Mercado M
  • Pellagatti A
  • Di Genua C
 et al. 
  • 33


    Mendeley users who have this article in their library.
  • 27


    Citations of this article.


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.

Author-supplied keywords

  • Disease progression
  • Mutation
  • Myelodysplastic syndromes
  • SETBP1
  • Whole exome sequencing

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Get full text


  • Marta Fernandez-Mercado

  • Andrea Pellagatti

  • Cristina Di Genua

  • Maria Jose Larrayoz

  • Nils Winkelmann

  • Paula Aranaz

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free