Polycythemia other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
The JAK2 1849G>T (617V>F) mutation has been detected in at least 90% of patients with polycythemia vera (PV). This mutation is strongly contributed with myeloproliferative disorders (MPDs). However, the presence of the mutation in 3 different MPDs raises the question of whether other molecular events or genetic modifiers influence the phenotype. Accumulating evidence suggests that the JAK2 mutation directly causes erythrocytosis in patients with PV.<ref name="pmid17389763">{{cite journal| author=Dupont S, Massé A, James C, Teyssandier I, Lécluse Y, Larbret F | display-authors=etal| title=The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. | journal=Blood | year= 2007 | volume= 110 | issue= 3 | pages= 1013-21 | pmid=17389763 | doi=10.1182/blood-2006-10-054940 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17389763 }} </ref> | |||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
Revision as of 18:54, 27 December 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
Overview
The JAK2 1849G>T (617V>F) mutation has been detected in at least 90% of patients with polycythemia vera (PV). This mutation is strongly contributed with myeloproliferative disorders (MPDs). However, the presence of the mutation in 3 different MPDs raises the question of whether other molecular events or genetic modifiers influence the phenotype. Accumulating evidence suggests that the JAK2 mutation directly causes erythrocytosis in patients with PV.[1]
Other Diagnostic Studies
There are no other diagnostic studies associated with [disease name].
OR
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include:
- [Finding 1]
- [Finding 2]
- [Finding 3]
OR
Other diagnostic studies for [disease name] include:
- [Diagnostic study 1], which demonstrates:
- [Finding 1]
- [Finding 2]
- [Finding 3]
- [Diagnostic study 2], which demonstrates:
- [Finding 1]
- [Finding 2]
- [Finding 3]
References
- ↑ Dupont S, Massé A, James C, Teyssandier I, Lécluse Y, Larbret F; et al. (2007). "The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera". Blood. 110 (3): 1013–21. doi:10.1182/blood-2006-10-054940. PMID 17389763.