CALR mutations in patients with essential thrombocythemia diagnosed in childhood and adolescence

摘要

After the recent discovery of various mutations of the CALR gene, <10% of adult patients with essential thrombocythemia (ET) or primary myelofibrosis carry no identified molecular markers.1'2 More rarely, ET may occur also in children and adolescents.3 We evaluated, by Sanger sequencing, the mutation status of exon 9 of the CALR gene in 34 ET patients younger than 20 years of age at diagnosis (median age, 15 years; range, 1-19 years). The study was approved by the Institutional Ethic Committees.