MPL W515L mutation in pediatric essential thrombocythemia.

Article Details

Citation

Farruggia P, D'Angelo P, La Rosa M, Scibetta N, Santangelo G, Lo Bello A, Duner E, Randi ML, Putti MC, Santoro A

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.

PubMed ID
23441089 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Thrombopoietin receptorP40238Details