Essential Thrombocythemia in Children and Adolescents

SIMPLE SUMMARY: Among chronic Ph-negative myeloproliferative neoplasms, essential thrombocythemia is found in children with low but increasing incidence. The diagnostic and clinical features do not completely overlap with ET of adult age. A significant number of cases, in fact, do not meet the criteria of clonality, and many cases require extensive clinical evaluation to exclude secondary, reactive forms. Therefore, histological analysis of bone marrow biopsy is necessary, and its use should be enforced. The clinical course appears to be more benign, at least within the first decades of observation, with the incidence of thrombotic events being much lower than in adults (4 % vs. 30%). Hemorrhages are mostly irrelevant. Therefore, the management should be carefully adapted to the individual patient, balancing the risk of future complications with long-term collateral effects of any drug. This review analyzes the peculiarities of the disease facing similarities and differences with adult scenarios. ABSTRACT: This paper reviews the features of pediatric essential thrombocythemia (ET). ET is a rare disease in children, challenging pediatric and adult hematologists alike. The current WHO classification acknowledges classical Philadelphia-negative MPNs and defines diagnostic criteria, mainly encompassing adult cases. The presence of one of three driver mutations (JAK2V617F, CALR, and MPL mutations) represent the proof of clonality typical of ET. Pediatric ET cases are thus usually confronted by adult approaches. These can fit only some patients, because only 25–40% of cases present one of the driver mutations. The diagnosis of hereditary, familial thrombocytosis and the exclusion of reactive/secondary thrombocytosis must be part of the diagnostic process in children and can clarify most of the negative cases. Still, many children present a clinical, histological picture of ET, with a molecular triple wild-type status. Moreover, prognosis seems more benign, at least within the first few decades of follow-up. Thrombotic events are rare, and only minor hemorrhages are ordinarily observed. As per the management, the need to control symptoms must be balanced with the collateral effects of lifelong drug therapy. We conclude that these differences concert a compelling case for a very careful therapeutic approach and advocate for the importance of further cooperative studies.