title: MPL W515L mutation in pediatric essential thrombocythemia.
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.
authors: Oncology Department, Pediatric Hematology and Oncology Unit, ARNAS Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy.
authors: Piero
authors: P
authors: Farruggia
authors: Paolo
authors: P
authors: D'Angelo
authors: Maria
authors: M
authors: La Rosa
authors: Nunzia
authors: N
authors: Scibetta
authors: Giuseppe
authors: G
authors: Santangelo
authors: Antonio
authors: A
authors: Lo Bello
authors: Elena
authors: E
authors: Duner
authors: Maria Luigia
authors: ML
authors: Randi
authors: Maria Caterina
authors: MC
authors: Putti
authors: Alessandra
authors: A
authors: Santoro
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D053628:Receptors, Thrombopoietin / Q000235:genetics* / Q000378:metabolism; D013920:Thrombocythemia, Essential / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2