Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation

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 analyze...

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Detalles Bibliográficos
Autores principales: Caocci, Giovanni, Atzeni, Sandra, Usai, Monica, La Nasa, Giorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758937/
https://www.ncbi.nlm.nih.gov/pubmed/29326868
http://dx.doi.org/10.1016/j.lrr.2017.12.002
Descripción
Sumario: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.

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