TY - JOUR T1 - Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort. JF - Br J Haematol Y1 - 2015 A1 - Randi, Maria L A1 - Geranio, Giulia A1 - Bertozzi, Irene A1 - Micalizzi, Concetta A1 - Ramenghi, Ugo A1 - Tucci, Fabio A1 - Notarangelo, Lucia D A1 - Ladogana, Saverio A1 - Menna, Giuseppe A1 - Giordano, Paola A1 - Consarino, Caterina A1 - Farruggia, Piero A1 - Zanazzo, Giulio A A1 - Fiori, Giovanni M A1 - Burnelli, Roberta A1 - Russo, Giovanna A1 - Jankovich, Momcilo A1 - Peroni, Edoardo A1 - Duner, Elena A1 - Basso, Giuseppe A1 - Fabris, Fabrizio A1 - Putti, Maria C KW - Adolescent KW - Adult KW - Amino Acid Substitution KW - Child KW - Child, Preschool KW - Cohort Studies KW - Female KW - Hematologic Neoplasms KW - Humans KW - Infant KW - Janus Kinase 2 KW - Male KW - Mutation, Missense KW - Neoplasm Proteins KW - Thrombocythemia, Essential AB -

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.

VL - 169 IS - 4 U1 - http://www.ncbi.nlm.nih.gov/pubmed/25716342?dopt=Abstract ER -