Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. (24th July 2013)

• Record Type: Journal Article
• Authors: Fernandez‐Mercado, Marta; Pellagatti, Andrea; Di Genua, Cristina; Larrayoz, Maria Jose; Winkelmann, Nils; Aranaz, Paula; Burns, Adam; Schuh, Anna; Calasanz, Maria Jose; Cross, Nicholas C. P.; Boultwood, Jacqueline
• Is Part Of: British journal of haematology. Volume 163:Number 2(2013:Oct.)
• Page Start: 235
• Page End: 239
• Publication Date: 2013-07-24
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.12491
• Languages: English
• ISSNs: 0007-1048

Abstract

<abstract abstract-type="main" id="bjh12491-abs-0001"> <title>Summary</title> <p>Whole exome sequencing was performed in a patient with myelodysplastic syndrome before and after progression to acute myeloid leukaemia. Mutations in several genes, including <italic>SETBP1</italic>, were identified following leukaemic transformation. Screening of 328 patients with myeloid disorders revealed <italic>SETBP1</italic> 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. <italic>SETBP1</italic> mutations were frequently acquired at the time of leukaemic evolution, coinciding with increase of leukaemic blasts. These data suggest that <italic>SETBP1</italic> mutations may play a role in MDS and chronic myelomonocytic leukaemia disease progression.</p> </abstract>