Study

Clinical and Molecular Investigation of Familial CEBPA-mutated Acute Myeloid Leukaemia

Study ID Alternative Stable ID Type
EGAS00001000949 Other

Study Description

Myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) are clonal diseases arising from the sequential acquisition of genetic aberrations in haematopoietic stem cells. Whilst the aetiology is predominantly sporadic, rare reports describe the autosomal dominant inheritance of MDS and AML (familial MDS/AML), often presenting in younger patients (<40 years of age) with a germline mutation in one of three haematopoietic transcription factors: RUNX1, CEBPA and GATA2. The clinical recognition of familial disease can be challenging due to wide variations in phenotype, latency and transmission, complicated further by the patients’ awareness and reporting of affected relatives. Distinct clinical manifestations have however been reported for each genetic subtype and whilst RUNX1 and GATA2 mutations can harbour prolonged dysplastic or cytopenic phases, germline CEBPA mutations universally present with AML de novo. Our group were the first to describe germline CEBPA mutations in 3 related individuals, all of whom developed AML between 10-30 years of age. The initial pedigree ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001000996
Whole exome sequencing data for AML and matched normal samples
Illumina HiSeq 2500 16

Who archives the data?

There are no publications available