Categorizing Molecular Mutations in MDS and AML

AML1 mutations induced MDS and MDS/AML in a mouse BMT model.

Myelodysplastic syndrome (MDS) is a hematopoietic stem-cell disorder characterized by trilineage dysplasia and susceptibility to acute myelogenous leukemia (AML). Analysis of molecular basis of MDS has been hampered by the heterogeneity of the disease. Recently, mutations of the transcription factor AML1/RUNX1 have been identified in 15% to 40% of MDS-refractory anemia with excess of blasts (RA...

IRAK1: oncotarget in MDS and AML

Myelodysplastic syndromes (MDS) are a collection of hematopoietic stem cell (HSC) disorders that consist of blood cytopenias, marrow dysplasia, and a predisposition to acute myeloid leukemia (AML). Approximately 30% of MDS patients go on to develop aggressive AML. MDS is fatal in a majority of patients as a result of marrow failure, immune dysfunction, and/or transformation to overt leukemia. A...

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature

A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozy...

Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Author details Department of Pathology, Northwestern University Feinberg School of Medicine, Feinberg 7-209A, 251 E. Huron Street, Chicago, IL 60611, USA. Division of Hematology and Oncology, Department of Internal Medicine, Northwestern University Feinberg School of Medicine, 251 E. Huron Street, Chicago, IL 60611, USA. Department of Pathology, University of Washington, Seattle, WA 98195, USA....

Isolated tetrasomy 8 in AML, MDS and MPD