Essential thrombocythaemia

Essential thrombocythaemia is a myeloproliferative disorder that results from the transformation of a multipotent haematopoietic progenitor. Its diagnosis can be challenging and its optimal management has been controversial, largely because of a virtual absence of randomised trials. However, this situation will be dramatically altered by two recent developments. First, the Medical Research Council Primary Thrombocythaemia 1 (PT-1) trial—the largest and most comprehensive randomised study of any myeloproliferative disorder—provides clear guidance on the management of patients with high-risk essential thrombocythaemia. Second, identification of a unique JAK2 mutation in a substantial proportion of patients with essential thrombocythaemia (and also other myeloproliferative disorders) has resulted in a powerful diagnostic tool and is likely to alter approaches to both the classification and management of the myeloproliferative disorders.

Key words: Essential thrombocythaemia, myeloproliferative disorder