Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort. (25th February 2015)

• Record Type: Journal Article
• Authors: Randi, Maria L.; Geranio, Giulia; Bertozzi, Irene; Micalizzi, Concetta; Ramenghi, Ugo; Tucci, Fabio; Notarangelo, Lucia D.; Ladogana, Saverio; Menna, Giuseppe; Giordano, Paola; Consarino, Caterina; Farruggia, Piero; Zanazzo, Giulio A.; Fiori, Giovanni M.; Burnelli, Roberta; Russo, Giovanna; Jankovich, Momcilo; Peroni, Edoardo; Duner, Elena; Basso, Giuseppe; Fabris, Fabrizio; Putti, Maria C.
• Is Part Of: British journal of haematology. Volume 169:Number 4(2015:May)
• Page Start: 584
• Page End: 589
• Publication Date: 2015-02-25
• Subjects: essential thrombocythaemia -- paediatric -- myeloproliferative neoplasm -- JAK2 -- CALR; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.13329
• Languages: English
• ISSNs: 0007-1048

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.