Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter
Joint Authors
Cucuianu, Andrei
Popp, Radu A.
Trifa, Adrian P.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-11-10
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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).
American Psychological Association (APA)
Trifa, Adrian P.& Cucuianu, Andrei& Popp, Radu A.. 2014. Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter. Case Reports in Hematology،Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-1034752
Modern Language Association (MLA)
Trifa, Adrian P.…[et al.]. Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter. Case Reports in Hematology No. 2014 (2014), pp.1-3.
https://search.emarefa.net/detail/BIM-1034752
American Medical Association (AMA)
Trifa, Adrian P.& Cucuianu, Andrei& Popp, Radu A.. Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter. Case Reports in Hematology. 2014. Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-1034752
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1034752