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Case Reports in Hematology
Volume 2014 (2014), Article ID 841787, 3 pages
Case Report

Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter

1Department of Medical Genetics, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400349 Cluj-Napoca, Romania
2Department of Haematology, “Ion Chiricuta” Cancer Institute, Cluj-Napoca, Romania

Received 28 August 2014; Revised 8 October 2014; Accepted 13 October 2014; Published 10 November 2014

Academic Editor: Stephen Langabeer

Copyright © 2014 Adrian P. Trifa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients—father and daughter—with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case report may constitute further proof that in familial essential thrombocythemia there are other, still undefined, constitutional, inherited genetic factors predisposing to the acquisition of various somatic mutations (e.g., JAK2 V617F and MPL).