Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort

Maria L. Randi, Giulia Geranio, Irene Bertozzi, Concetta Micalizzi, Ugo Ramenghi, Fabio Tucci, Lucia D. Notarangelo, Saverio Ladogana, Giuseppe Menna, Paola Giordano, Caterina Consarino, Piero Farruggia, Giulio A. Zanazzo, Giovanni M. Fiori, Roberta Burnelli, Giovanna Russo, Momcilo Jankovich, Edoardo Peroni, Elena Duner, Giuseppe BassoFabrizio Fabris, Maria C. Putti

Research output: Contribution to journalArticlepeer-review

Abstract

Summary: Sporadic essential thrombocythaemia (ET) is rare in paediatrics, and the diagnostic and clinical approach to paediatric cases cannot be simply copied from experience with adults. Here, we assessed 89 children with a clinical diagnosis of ET and found that 23 patients (25·8%) had a clonal disease. The JAK2 V617F mutation was identified in 14 children, 1 child had the MPL W515L mutation, and 6 had CALR mutations. The monoclonal X-chromosome inactivation pattern was seen in six patients (two with JAK2 V617F and two with CALR mutations). The other 66 patients (74·2%) had persistent thrombocytosis with no clonality. There were no clinical or haematological differences between the clonal and non-clonal patients. The relative proportion of ET-specific mutations in the clonal children was much the same as in adults. The higher prevalence of non-clonal cases suggests that some patients may not have myeloproliferative neoplasms, with significant implications for their treatment.

Original languageEnglish
Pages (from-to)584-589
Number of pages6
JournalBritish Journal of Haematology
Volume169
Issue number4
DOIs
Publication statusPublished - May 1 2015

Keywords

  • CALR
  • Essential thrombocythaemia
  • JAK2
  • Myeloproliferative neoplasm
  • Paediatric

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

Fingerprint Dive into the research topics of 'Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort'. Together they form a unique fingerprint.

Cite this