MPL W515L mutation in pediatric essential thrombocythemia
| Autor: | Maria Luigia Randi, Giuseppe Santangelo, Piero Farruggia, Maria Caterina Putti, Paolo D'Angelo, Elena Duner, Nunzia Scibetta, Antonio Lo Bello, Maria La Rosa, Alessandra Santoro |
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| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
Pediatrics business.industry Essential thrombocythemia Hematology Molecular Abnormality medicine.disease Gastroenterology Pediatric patient Oncology hemic and lymphatic diseases Internal medicine Pediatrics Perinatology and Child Health Mutation (genetic algorithm) medicine Missense mutation business Transversion JAK2 V617F Myeloproliferative neoplasm |
| Zdroj: | Pediatric Blood & Cancer. 60:E52-E54 |
| ISSN: | 1545-5009 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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