GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations. (5th April 2013)

• Record Type: Journal Article
• Authors: Green, Claire L.; Tawana, Kiran; Hills, Robert K.; Bödör, Csaba; Fitzgibbon, Jude; Inglott, Sarah; Ancliff, Phil; Burnett, Alan K.; Linch, David C.; Gale, Rosemary E.
• Is Part Of: British journal of haematology. Volume 161:Number 5(2013:Jun.)
• Page Start: 701
• Page End: 705
• Publication Date: 2013-04-05
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.12317
• Languages: English
• ISSNs: 0007-1048

Abstract

<abstract abstract-type="main" xml:lang="en" id="bjh12317-abs-0001"> <title>Summary</title> <p> <italic>GATA2</italic> mutations have recently been reported in acute myeloid leukaemia (AML) patients with <italic>CEBPA</italic>‐double mutations. To explore their impact on this favourable‐risk disease, we determined <italic>GATA2</italic> status in 153 sporadic AML patients and three members of a germ‐line <italic>CEBPA</italic>‐mutant family at AML presentation. Overall, 27% (15/55) <italic>CEBPA</italic>‐double, 16% (7/43) <italic>CEBPA</italic>‐single and 0% (0/55) normal karyotype/<italic>CEBPA</italic>‐wild‐type patients were <italic>GATA2‐</italic>mutant. All familial AML patients acquired both a second <italic>CEBPA</italic> and a <italic>GATA2</italic> mutation. <italic>CEBPA</italic> and <italic>GATA2</italic> mutant levels indicated that both mutations were likely to be early events in leukaemogenesis. <italic>GATA2</italic> status did not impact on the favourable outcome of <italic>CEBPA</italic>‐double/<italic>FLT3‐</italic>inernal tandem duplication‐negative patients.</p> </abstract>