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International Journal of Hematology
Published in: International Journal of Hematology 2/2016

01-08-2016 | Progress in Hematology

Clinical significance of acquired somatic mutations in aplastic anaemia

Authors: J. C. W. Marsh, G. J. Mufti

Published in: International Journal of Hematology | Issue 2/2016

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Abstract

Aplastic anaemia (AA) is frequently associated with other disorders of clonal haemopoiesis such as paroxysmal nocturnal haemoglobinuria (PNH), myelodysplastic syndrome (MDS) and T-large granular lymphocytosis. Certain clones may escape the immune attack within the bone marrow environment and proliferate and attain a survival advantage over normal haemopoietic stem cells, such as trisomy 8, loss of heterozygosity of short arm of chromosome 6 and del13q clones. Recently acquired somatic mutations (SM), excluding PNH clones, have been reported in around 20–25 % of patients with AA, which predispose to a higher risk of later malignant transformation to MDS/acute myeloid leukaemia. Furthermore, certain SM, such as ASXL1 and DNMT3A are associated with poor survival following immunosuppressive therapy, whereas PIGA, BCOR/BCORL1 predict for good response and survival. Further detailed and serial analysis of the immune signature in AA is needed to understand the pathogenetic basis for the presence of clones with SM in a significant proportion of patients.
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Metadata
Title
Clinical significance of acquired somatic mutations in aplastic anaemia
Authors
J. C. W. Marsh
G. J. Mufti
Publication date
01-08-2016
Publisher
Springer Japan
Published in
International Journal of Hematology / Issue 2/2016
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-016-1972-8

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