Essential thrombocythemia A retrospective case series

Assaf Arie Barg*, Amos Toren, Hannah Tamary, Joanne Yacobovich, Orna Steinberg-Shemer, Oded Gilad, Gal Goldstein, Hagit Miskin, Shoshana Revel-Vilk, Nurit Rosenbeg, Gili Kenet, Vered Shkalim Zemer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Background: Essential thrombocythemia (ET) is rare in children, and pediatric guidelines are lacking. Therefore, we aimed to evaluate ET diagnosis and treatment in a pediatric cohort. Procedure: Data of patients with ET from three hospitals were reviewed. Molecular diagnosis included JAK2V617F, CALR, and MPL mutations. Patients were evaluated for acquired von Willebrand syndrome (AVWS). Follow-up included clinical symptoms, adverse events, and treatment. Results: Twelve children (median age: 8 years, range 1-14.5) were included. Mean lag period between the first documentation of thrombocytosis until ET diagnosis was 36 months. Six patients were positive for JAK2V617F and two for CALR mutations. In six of nine patients, AVWS was diagnosed. At diagnosis, only 33% of patients started therapy with aspirin (n = 4) and hydroxyurea (n = 2). In three of eight untreated patients, therapy was added during follow-up. The cohort was followed for a median of 32.5 months (range: 4-108 months). Clinical follow-up disclosed vascular complications in 4 of 12 patients (deep vein thrombosis, n = 1; transient ischemic attack, n = 3). Two females experienced excessive bleeding; both were diagnosed with AVWS. Neither leukemia nor myelofibrosis evolved in our cohort. Conclusion: Increased awareness to pediatric ET is warranted, as delayed diagnosis is common. Compared to adults, AVWS may be more prevalent among children with ET.

Original languageEnglish
Article numbere28183
JournalPediatric Blood and Cancer
Issue number5
StatePublished - 1 May 2020


  • acquired von Willebrand syndrome
  • diagnosis
  • essential thrombocythemia
  • pediatric
  • thrombosis


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