Acute myeloid leukemia in a child with hereditary thrombocytopenia

Pediatr Blood Cancer. 2007 Jan;48(1):105-7. doi: 10.1002/pbc.20677.

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.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / administration & dosage
  • Blood Coagulation Disorders, Inherited / diagnosis
  • Blood Coagulation Disorders, Inherited / drug therapy
  • Blood Coagulation Disorders, Inherited / genetics*
  • Blood Coagulation Disorders, Inherited / pathology
  • Child, Preschool
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / drug therapy
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 21 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Humans
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Molecular Motor Proteins / genetics
  • Myosin Heavy Chains / genetics
  • Oncogene Proteins, Fusion / genetics
  • RUNX1 Translocation Partner 1 Protein
  • Remission Induction
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / drug therapy
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / pathology
  • Translocation, Genetic

Substances

  • AML1-ETO fusion protein, human
  • Core Binding Factor Alpha 2 Subunit
  • MYH9 protein, human
  • Molecular Motor Proteins
  • Oncogene Proteins, Fusion
  • RUNX1 Translocation Partner 1 Protein
  • Myosin Heavy Chains