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Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort
Author(s) -
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.
Publication year - 2015
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.13329
Subject(s) - thrombocytosis , jak2 v617f , medicine , cohort , essential thrombocythemia , calreticulin , pediatrics , mutation , anagrelide , myelofibrosis , bone marrow , genetics , polycythemia vera , platelet , biology , endoplasmic reticulum , gene
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 JAK 2 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 JAK 2 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.