Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.

ABSTRACT:

Background

The majority of the cases of bone marrow failure syndromes/aplastic anaemias (BMFS/AA) are non-hereditary and considered idiopathic (80-85%). The peripheral blood picture is variable, with anaemia, neutropenia and/or thrombocytopenia, and the patients with idiopathic BMFS/AA may have a risk of transformation into a myelodysplastic syndrome (MDS) and/or an acute myeloid leukaemia (AML), as ascertained for all inherited BMFS. We already reported four patients with different forms of BMFS/AA with chromosome anomalies as primary etiologic event: the chromosome changes exerted an effect on specific genes, namely RUNX1, MPL, and FLI1, leading to the disease.

Results

We report two further patients with non-hereditary BM failure, with diagnosis of sev

SUBMITTER: Valli R 

PROVIDER: S-EPMC5765665 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature