Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey

Abstract

Background Philadelphia‐negative (Ph‐negative) myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are exceptionally rare during childhood. Thus, clinical features of pediatric Ph‐negative MPNs remain largely unknown. This study was therefore performed to address this. Methods We performed a retrospective study to collect clinical information of children diagnosed with Ph‐negative MPNs from 2000 to 2016 using questionnaires in qualified institutions in Japan. The results obtained from the questionnaire survey were then combined with those from the national registry data. Results Among 50 children identified, five had PV, 44 had ET, and one had PMF. Median age at diagnosis was 14.0, 9.0, and 0 years, respectively. Male to female ratio was 4:1, 21:23, and 1:0, respectively. Detection rates of the JAK2 V617F variant were 0/5 in PV and 9/39 in ET. Frequencies of complications, such as thrombosis and subsequent leukemia, were lower than complication frequencies in adults. We identified two children who developed subsequent leukemia, which has not been reported previously, and one of them died. Conclusion This is the first nationally representative survey of pediatric Ph‐negative MPNs. Given its rarity, an international collaboration with comprehensive genetic analyses might be needed to fully elucidate the clinical and genetic features.

Thrombocytosis in children

“…Although the causes and formation mechanisms of primary thrombocytosis are not fully elucidated, infections were identified as the most common causes of secondary thrombocytosis in many studies. In a study, the most common causes of severe thrombocytosis were infections in 80 (56.8%) patients, anemia in 21 (14.9%) patients, and autoimmune diseases in 14 (9.9%) patients 9 . Clemens Stockklausner et al reported that the most common causes were infections (49.5%), postsplenectomy (7.8%), Kawasaki disease (6.4%), tissue damage (4.5%), blood diseases (3.7%), malignancies (3.7%), renal diseases (3.2%), chronic inflammation (1.8%), essential thrombocythemia (0.5%), and other causes (3.7%) 10 .…”