title: Acute myeloid leukemia in a child with hereditary thrombocytopenia.
abstract: A child with a known diagnosis of an autosomal dominant macrothrombocytopenia, Fechtner Syndrome, developed acute myeloid leukemia (AML). Recently the disease gene for the inherited macrothrombocytopenias has been identified as MYH9, encoding for non-muscle myosin heavy chain-A. MYH9 has never been associated with the development of acute leukemia, but MYH11 is disrupted in the M4 eosinophilia sub-type of AML (inv16). The patients leukemic blasts did carry the common t(8;21) which yields an AML1-ETO fusion protein that inhibits AML-1. Despite his thrombocytopenia, the patient successfully completed intensive bone marrow cytoreduction without significant bleeding complications and is now in remission for over 3 years.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. rheingold@email.chop.edu
authors.forename: Susan R
authors.initials: SR
authors.lastname: Rheingold
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage; D025861:Blood Coagulation Disorders, Inherited / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D012074:Remission Induction; D013921:Thrombocytopenia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D018995:Myosin Heavy Chains