MPL W515L mutation in pediatric essential thrombocythemia.
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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.