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Essential thrombocythemia A retrospective case series
Assaf Arie Barg1,2,3, Amos Toren1,3, Hannah Tamary1,4
1Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pediatric essential thrombocythemia (ET) diagnosis is often delayed. Acquired von Willebrand syndrome (AVWS) may be more common in children with ET than adults, highlighting the need for increased awareness.
Area of Science:
- Hematology
- Pediatric Oncology
Background:
- Essential thrombocythemia (ET) is a rare myeloproliferative neoplasm in children, with limited established pediatric guidelines.
- This study evaluates the diagnosis and treatment patterns of ET in a pediatric cohort.
Observation:
- A cohort of 12 children with ET was analyzed, revealing a median diagnostic lag of 36 months.
- Molecular testing identified JAK2V617F and CALR mutations in most patients.
- Acquired von Willebrand syndrome (AVWS) was diagnosed in 66% of evaluated patients.
Findings:
- Vascular complications occurred in 33% of patients, including deep vein thrombosis and transient ischemic attacks.
- Excessive bleeding was noted in two females, both with AVWS.
- No cases of leukemia or myelofibrosis transformation were observed during follow-up.
Implications:
- Increased awareness and timely diagnosis of pediatric ET are crucial due to common delays.
- The higher prevalence of AVWS in children with ET compared to adults warrants further investigation and specific management considerations.
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