Running title: GATA2 mutations in biCEBPA AML 1 GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia*

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...

Sialidase inhibition to increase platelet counts: A new treatment option for thrombocytopenia.

Finally, we did not detect a specific gene expression signature for GATA2 mutated vs. non-mutated cases. Overall, CR was achieved in 113 patients (88%), of whom 36 relapsed (estimated CIR at 3 and 5 years, 39%). Neither age nor karyotype or gene mutations (including NPM1, FLT3, of GATA2 and type CEBPA mutation) significantly influenced CIR in multivariate analysis. Five-year OS was estimated at...

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in RUNX1 or CEBPA. Recently, novel germline mutations in GATA2 have been reported. We, therefore, investigated individuals from families with one or more first-degree relativ...

Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome Running title: Heterogeneity of CEBPA mutations in AML

Long-term follow-up of cytogenetically normal CEBPA-mutated AML

BACKGROUND The aim of this study was to analyze the long-term survival of AML patients with CEBPA mutations. PATIENTS AND METHODS We investigated 88 AML patients with a median age of 61 years and (1) cytogenetically normal AML (CN-AML), (2) monoallelic (moCEBPA) or biallelic (biCEBPA) CEBPA mutation, and (3) intensive induction treatment. 60/88 patients have been described previously with a s...