Myeloproliferative neoplasms (MPN) are well-delineated diseases in adults but are rare, poorly understood conditions in children. Essential thrombocytosis (ET), one of the classical BCR-ABL-negative MPN, is overall a rare finding in the pediatric population but seems to be one of the more common MPN reported in children. It occurs less frequently and with more favorable outcomes in children than in adults. The proportions of pediatric patients with mutations in JAK2, MPL, and CALR (the genes most commonly mutated in adult patients) seem lower than in adults,1–4 raising the question of what alternative mutations may be contributing to disease in this population. Overall, the genetic landscape of pediatric ET has not been thoroughly evaluated.5 In an effort to understand the possible pathogenic lesions involved in pediatric ET better, we performed high-throughput sequencing using a comprehensive targeted gene panel on five pediatric patients with ET. We identified mutations in genes involved in transcriptional regulation and nuclear transport.
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Kucine et al. (2016) studied this question.