Polycythemia other diagnostic studies: Difference between revisions
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{{Polycythemia}} | {{Polycythemia}} | ||
{{CMG}} {{AE}}{{Debduti}} | {{CMG}} {{AE}}{{Debduti}}{{ZO}} | ||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
The [[JAK2]] 1849G>T (617V>F) [[mutation]] has been detected in at least 90% of patients with [[polycythemia vera]] ([[PV]]). This [[mutation]] is strongly [[contribut]]ed 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> | |||
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==References== | ==References== | ||
Latest revision as of 19:02, 24 January 2021
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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]Zaida Obeidat, M.D.
Other Diagnostic Studies
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]
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.