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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.
Insights
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.
Background:
Essential thrombocythemia (ET) is rare in children, and pediatric guidelines are lacking. Therefore, we aimed to evaluate ET diagnosis and treatment in a pediatric cohort.
Procedure:
Data of patients with ET from three hospitals were reviewed. Molecular diagnosis included JAK2V617F, CALR, and MPL mutations. Patients were evaluated for acquired von Willebrand syndrome (AVWS). Follow-up included clinical symptoms, adverse events, and treatment.
Results:
Twelve children (median age: 8 years, range 1-14.5) were included. Mean lag period between the first documentation of thrombocytosis until ET diagnosis was 36 months. Six patients were positive for JAK2V617F and two for CALR mutations. In six of nine patients, AVWS was diagnosed. At diagnosis, only 33% of patients started therapy with aspirin (n = 4) and hydroxyurea (n = 2). In three of eight untreated patients, therapy was added during follow-up. The cohort was followed for a median of 32.5 months (range: 4-108 months). Clinical follow-up disclosed vascular complications in 4 of 12 patients (deep vein thrombosis, n = 1; transient ischemic attack, n = 3). Two females experienced excessive bleeding; both were diagnosed with AVWS. Neither leukemia nor myelofibrosis evolved in our cohort.
Conclusion:
Increased awareness to pediatric ET is warranted, as delayed diagnosis is common. Compared to adults, AVWS may be more prevalent among children with ET.
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