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Recent advances in understanding clonal haematopoiesis in aplastic anaemia
Author(s) -
Stanley Natasha,
Olson Timothy S.,
Babushok Daria V.
Publication year - 2017
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.14510
Subject(s) - haematopoiesis , somatic evolution in cancer , bone marrow , immunology , somatic cell , bone marrow failure , aplastic anemia , clonal selection , biology , immune system , cancer research , stem cell , genetics , gene
Summary Acquired aplastic anaemia ( AA ) is an immune‐mediated bone marrow failure disorder inextricably linked to clonal haematopoiesis. The majority of AA patients have somatic mutations and/or structural chromosomal abnormalities detected as early as at diagnosis. In contrast to other conditions linked to clonal haematopoiesis, the clonal signature of AA reflects its immune pathophysiology. The most common alterations are clonal expansions of cells lacking glycophosphotidylinositol‐anchored proteins, loss of human leucocyte antigen alleles, and mutations in BCOR / BCORL 1 , ASXL 1 and DNMT 3A . Here, we present the current knowledge of clonal haematopoiesis in AA as it relates to aging, inherited bone marrow failure, and the grey‐zone overlap of AA and myelodysplastic syndrome ( MDS ). We conclude by discussing the significance of clonal haematopoiesis both for improved diagnosis of AA , as well as for a more precise, personalized approach to prognostication of outcomes and therapy choices.