Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation

Giovanni Caocci; Sandra Atzeni; Monica Usai; Giorgio La Nasa

doi:10.1016/j.lrr.2017.12.002

Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation

Leuk Res Rep. 2017 Dec 27:9:14-15. doi: 10.1016/j.lrr.2017.12.002. eCollection 2018.

Authors

Giovanni Caocci¹, Sandra Atzeni¹, Monica Usai¹, Giorgio La Nasa¹

Affiliation

¹ Hematology Unit, Department of Medical Sciences and Public Health, University of Cagliari, Italy.

Abstract

JAK2^V617F mutation is found in about 60% of cases of essential thrombocytemia (ET) and represents a driving mutation. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by a low platelet (PLT) count. So far, only 2 reports described ET following ITP. For the first time we analyzed in a patient the JAK2^V617F allele burden at ITP onset occurred 13 years before the ET diagnosis and found the presence of a small clone JAK2^V617F positive clone (3%) raised to 27% in the following years. The association of ET and ITP could suggest similar pathogenetic mechanisms that should be further investigated.

Keywords: Essential thrombocytemia; Immune thrombocytopenia; JAK2V617F mutation.

Publication types

Case Reports