ESSENTIAL THROMBOCYTOSIS IN CHILDREN

Abstract

Objective: Sporadic essential thrombocytosis is a very rare disease in the childhood age group and its frequency has been reported as 1/1,000,000. WHO 2008 essential thrombocytosis diagnostic criteria; high platelet count for more than one year (>450 × 109/l), exclusion of reactive or secondary causes of thrombocytosis (iron deficiency, megaloblastic anemia, acute phase reactants, trauma, operation), no family history of myeloproliferative neoplasm and thrombocytosis, and WHO It can be summarized as the absence of myeloid neoplasm criteria. Methodology: In this study, seven cases diagnosed as sporadic essential thrombocytosis in our Pediatric Hematology clinic are presented. Six of the patients were girls and one was a boy. The median age at presentation was 13 years (the youngest 5 months, the oldest 15 years old). Application complaints: Headache, vertigo and tinnitus in adolescent children were not present in young children, they were detected incidentally. Thrombus was not detected in any patient. The median platelet count at diagnosis was 1442 × 109/l (range 963- 2438). Results: An increase in megakaryocytes was detected in bone marrow aspiration, no cytogenetic anomalies were found. Jak-2 (V617F) mutation was detected in one case and CALR mutation in two cases. No MPL (W515L) mutation was found in any case. In one case with a CALR mutation, a known type 2 mutation was detected, and in the other a new, previously unidentified mutation was detected. In the other four cases, no clonality was detected. Three cases with mutations and two cases with no mutations are being followed up with hydroxyurea therapy. The other two cases are using low-dose aspirin. Follow-up periods range from six months to nine years. No complications developed. Conclusion: Thrombocytosis is a common problem in childhood. Reactive and secondary causes are usually identified. Essential thrombocytosis is a diagnosis that should be considered after excluding other causes. Mutation studies should be performed in pediatric patients who meet the WHO 2008 criteria. While Jak-2 (V617F), CALR and MPL (W515L) mutations are seen in 90% of cases in adults, these three mutations are only seen in 25% of the childhood age group. The high number of cases with no mutations indicates that new candidate genes should be sought and studied.