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Essential versus reactive thrombocythemia in children: retrospective analyses of 12 cases
Abeer Abd El-Moneim1, Christian P Kratz, Silke Böll
1Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Germany.
Insights
Essential thrombocythemia (ET) in children is rare, with limited understanding of its clinical and molecular aspects. Long-term follow-up is crucial for distinguishing primary from secondary thrombocytosis in JAK2 mutation-negative cases.
Area of Science:
- Pediatric Hematology
- Oncology
- Molecular Diagnostics
Background:
- Essential thrombocythemia (ET) is uncommon in children, necessitating further research into its clinical presentation and molecular underpinnings.
- Understanding pediatric ET is vital for accurate diagnosis and management.
Purpose of the Study:
- To investigate the clinical, hematological, and molecular characteristics of pediatric ET.
- To evaluate the long-term outcomes and treatment strategies for children diagnosed with ET.
Main Methods:
- A retrospective multi-institutional study involving 12 children (aged 5-16) with suspected ET.
- Analysis of clinical data, bone marrow morphology, and molecular markers, including JAK2 mutation status.
Main Results:
- Most patients presented with thrombocytosis (median platelet count 1,325 x 10(9)/L).
- Bone marrow morphology was consistent with ET in 11/12 cases; JAK2 (V617F) mutation was rare (1/9).
- Symptoms related to thrombocytosis occurred in most patients, with some developing thrombosis or bleeding. Treatments varied, and all patients survived without developing leukemia.
Conclusions:
- Long-term follow-up aids in differentiating primary and secondary thrombocytosis, especially in JAK2 mutation-negative cases.
- Secondary thrombocytosis in children may present with nonspecific symptoms and without organomegaly.
- Optimal treatment indications for pediatric ET require further clarification.
Background:
Essential thrombocythemia (ET) rarely occurs in the pediatric population and little is known about the clinical course and the molecular characteristics.
Procedure:
In this retrospective multi-institutional study we examine the clinical, hematological, and molecular features of 12 children aged 5-16 years with thrombocytosis and a suspected diagnosis of ET.
Results:
Median follow-up was 59 months (range 10-72). Seven patients presented with clinical symptoms potentially related to thrombocytosis. The remaining five patients were diagnosed incidentally. Median platelet count at diagnosis was 1,325 x 10(9)/L (range 600-3,050). In 11 out of 12 cases bone marrow morphology was consistent with ET, the remaining patient had chronic idiopathic myelofibrosis. Cytogenetic analyses were normal in all studied cases and only one out of nine analyzed cases harbored a JAK(V617F) allele. Within 6 months after initial presentation one patient who was initially asymptomatic developed thrombosis and another patient had mild bleeding. Eight patients were treated with acetylsalicylic acid, one patient received hydroxyurea, and two patients received anagrelide. At last follow-up, all patients were alive and none had developed leukemia. Five patients experienced hematological remission. Two children had not received any therapy. During the course of their disease, nine patients developed symptoms possibly attributable to an elevated platelet count.
Conclusions:
In JAK2 mutation negative cases, long-term follow-up is helpful to distinguish between primary and secondary thrombocytosis. Secondary cases are not associated with organomegaly but may present with unspecific symptoms. Indications for treatment in children remain unclear.
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