Absence of canonical mutations in pediatric essential thrombocytosis: a case series

Abstract

Essential thrombocytosis (ET) is a rare myeloproliferative disease in children, and there are few standard management guidelines. We herein report a case series of 10 pediatric patients with ET diagnosed at our institution over a period of 13 years. All patients fulfilled the World Health Organization diagnostic criteria for ET, and none harbored the canonical ET mutations JAK2 V617F, CALR, or MPL. Overall, 7 of the 10 patients received treatment for ET, and during follow-up, 3 of these 7 patients discontinued cytoreductive therapy. No patient experienced hemorrhagic or thrombotic complications. Our case series emphasizes that the genetic features of pediatric ET may differ significantly from those of adult ET, and that treatment cessation is a possibility for some patients.