Related Experiment Video
Updated: May 13, 2026
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
MPL W515L mutation in pediatric essential thrombocythemia
Piero Farruggia1, Paolo D'Angelo, Maria La Rosa
1Oncology Department, Pediatric Hematology and Oncology Unit, ARNAS Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy.
Pediatric Blood & Cancer
|February 27, 2013
Summary
Essential thrombocythemia (ET) is very rare in children. This study reports the MPL W515 mutation in a pediatric patient, a mutation typically found in adults with ET.
Area of Science:
- Hematology
- Pediatric Oncology
- Molecular Biology
Background:
- Essential thrombocythemia (ET) is a rare myeloproliferative neoplasm.
- Pediatric ET is exceptionally uncommon, often lacking identifiable molecular drivers.
- The JAK2 V617F mutation is found in approximately 40% of pediatric ET cases.
Observation:
- This report details a rare case of Essential Thrombocythemia in a pediatric patient.
- The patient presented with a specific molecular abnormality not typically seen in this age group.
Findings:
- The study identified a mutation in the MPL gene (codon 515) in a pediatric ET patient.
- This MPL W515 mutation is more commonly observed in adult ET patients (3-8%).
Implications:
- This finding expands the known spectrum of molecular abnormalities in pediatric ET.
- It highlights the importance of considering MPL mutations in the diagnostic workup of pediatric ET.
- Further research is warranted to understand the prevalence and clinical significance of MPL mutations in children.
