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

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 mut...

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Autores principales: Trifa, Adrian P., Cucuianu, Andrei, Popp, Radu A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267161/
https://www.ncbi.nlm.nih.gov/pubmed/25525531
http://dx.doi.org/10.1155/2014/841787
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author Trifa, Adrian P.
Cucuianu, Andrei
Popp, Radu A.
author_facet Trifa, Adrian P.
Cucuianu, Andrei
Popp, Radu A.
author_sort Trifa, Adrian P.
collection PubMed
description 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).
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spelling pubmed-42671612014-12-18 Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter Trifa, Adrian P. Cucuianu, Andrei Popp, Radu A. Case Rep Hematol Case Report 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). Hindawi Publishing Corporation 2014 2014-11-10 /pmc/articles/PMC4267161/ /pubmed/25525531 http://dx.doi.org/10.1155/2014/841787 Text en Copyright © 2014 Adrian P. Trifa et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Trifa, Adrian P.
Cucuianu, Andrei
Popp, Radu A.
Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
title Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
title_full Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
title_fullStr Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
title_full_unstemmed Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
title_short Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
title_sort familial essential thrombocythemia associated with mpl w515l mutation in father and jak2 v617f mutation in daughter
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267161/
https://www.ncbi.nlm.nih.gov/pubmed/25525531
http://dx.doi.org/10.1155/2014/841787
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