Absence of canonical mutations in pediatric essential thrombocytosis: a case series
10.1007/s44313-024-00036-4
- Author:
Jae Wook LEE
1
;
Suejung JO
;
Jae Won YOO
;
Seongkoo KIM
;
Nack‑Gyun CHUNG
;
Bin CHO
Author Information
1. Division of Pediatric Hematology and Oncology, Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea
- Publication Type:CORRESPONDENCE
- From:Blood Research
2024;59():32-
- CountryRepublic of Korea
- Language:English
-
Abstract:
Essential thrombocytosis (ET) is a rare myeloproliferative disease in children, and there are few standard man‑ agement 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 signifi‑ cantly from those of adult ET, and that treatment cessation is a possibility for some patients.
