MPL W515L mutation in pediatric essential thrombocythemia

Pediatr Blood Cancer. 2013 Aug;60(8):E52-4. doi: 10.1002/pbc.24500. Epub 2013 Feb 25.

Abstract

Essential thrombocythemia (ET) is extremely rare in the pediatric population. In most patients no molecular abnormality can be found, with about 40% of pediatric patients harboring a JAK2 V617F mutation. Another recurrent mutation, involving a W to L or K transversion at MPL codon 515, has been reported in about 3-8% of adult ET patients. Herein we describe this mutation in a pediatric patient.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Child, Preschool
  • Humans
  • Janus Kinase 2 / genetics
  • Janus Kinase 2 / metabolism
  • Male
  • Mutation, Missense*
  • Receptors, Thrombopoietin / genetics*
  • Receptors, Thrombopoietin / metabolism
  • Thrombocythemia, Essential / genetics*
  • Thrombocythemia, Essential / metabolism
  • Thrombocythemia, Essential / pathology

Substances

  • Receptors, Thrombopoietin
  • MPL protein, human
  • JAK2 protein, human
  • Janus Kinase 2