Article
Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.
Genes, chromosomes & cancer - 1 Jul 2004
Minelli Antonella, Maserati Emanuela, Rossi Gabriele, Bernardo Maria Ester, De Stefano Piero, Cecchini Maria Paola, Valli Roberto, Albano Veronica, Pierani Paolo, Leszl Anna, Sainati Laura, Lo Curto Francesco, Danesino Cesare, Locatelli Franco, Pasquali Francesco
Abstract excerpt
Familial platelet disorder with propensity to acute myelogenous leukemia, or FPD/AML (OMIM #601399), is a rare autosomal dominant condition, with only 12 families reported. It is characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies. Causal mutations have been identified in the RUNX1 gene (also known as AML1, CBFA2) in the 11 families so far...
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