Article
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Blood - 1 Nov 2001
Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H
Abstract excerpt
Hereditary mutations associated with hematologic malignancies are rare. Heterozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML, MIM 601399). A new 3-generation family with FPD/AML with a novel CBFA2 mutation is described. In this family, AML was...
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