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Mutations in SETBP 1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression
Author(s) -
FernandezMercado 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
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12491
Subject(s) - myelodysplastic syndromes , chronic myelomonocytic leukemia , myeloid , somatic evolution in cancer , cancer research , mutation , exome sequencing , immunology , disease , medicine , biology , gene , bone marrow , genetics
Summary Whole exome sequencing was performed in a patient with myelodysplastic syndrome before and after progression to acute myeloid leukaemia. Mutations in several genes, including SETBP 1 , were identified following leukaemic transformation. Screening of 328 patients with myeloid disorders revealed SETBP 1 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. SETBP 1 mutations were frequently acquired at the time of leukaemic evolution, coinciding with increase of leukaemic blasts. These data suggest that SETBP 1 mutations may play a role in MDS and chronic myelomonocytic leukaemia disease progression.