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Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome

Eur J Haematol. 2003 Apr;70(4):246-8. doi: 10.1034/j.1600-0609.2003.00054.x.

Abstract

Acute myelogenous leukemia with t(8;21)(q22;q22) developed in a 42-yr-old woman having thrombocytopenia with absent radii syndrome (TARS). Standard induction and postremission therapies were safely administered. With each successive chemotherapy, the onset of platelet recovery was not delayed, but peak platelet counts were persistently suppressed. Nine months after achieving complete hematologic and cytogenetic remission, she remains severely thrombocytopenic (platelet count 6-12 x 109/L). She is, however, asymptomatic and transfusion independent. Of interest is the transient normalization of platelet count (rebound relative thrombocytosis). Our report and review of the literature suggests that TARS, contrary to previous belief, may be associated with increased risk of acute leukemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Cell Differentiation
  • Cytarabine / administration & dosage
  • Cytokines / physiology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Idarubicin / administration & dosage
  • Leukemia, Myeloid, Acute / blood
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics*
  • Menorrhagia / etiology
  • Neoplasm Proteins / physiology
  • Platelet Count
  • Proto-Oncogene Proteins / physiology
  • Radius / abnormalities*
  • Receptors, Cytokine / physiology
  • Receptors, Thrombopoietin
  • Recurrence
  • Remission Induction
  • Risk
  • Syndrome
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / physiopathology

Substances

  • Cytokines
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Receptors, Cytokine
  • Receptors, Thrombopoietin
  • Cytarabine
  • MPL protein, human
  • Idarubicin