Dysmegakaryopoiesis, a clue for an early diagnosis of familial platelet disorder with propensity to acute myeloid leukemia in case of unexplained inherited thrombocytopenia associated with normal-sized platelets

J Pediatr Hematol Oncol. 2011 Oct;33(7):e264-6. doi: 10.1097/MPH.0b013e31821754ac.

Abstract

We report dysmegakaryopoiesis in a case of familial platelet disorder with predisposition to acute myeloid leukemia (familial platelet disorder/acute myeloid leukemia phenotype Mendelian Inheritance in Man number 601 399). Slight reduction of the number of megakaryocytes with high nucleocytoplasmic ratio, strongly basophilic cytoplasm and poorly lobulated nuclei are suggestive of megakaryocytic dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Blood Platelet Disorders / diagnosis*
  • Blood Platelet Disorders / genetics
  • Blood Platelets / cytology*
  • Blood Platelets / pathology
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Family
  • Humans
  • Leukemia, Myeloid, Acute / diagnosis*
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Megakaryocytes / pathology*
  • Pedigree
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human