Essential thrombocytosis pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
==Pathophysiology== | |||
The pathologic basis for this disease is unknown. However, essential thrombosis resembles [[polycythemia vera]] in that cells of the [[megakaryocyte|megakaryocytic]] series are more sensitive to [[growth factors]]. Platelets derived from the abnormal megakaryocytes do not function properly, which contributes to the clinical features of bleeding and thrombosis. | |||
In 2005, a mutation in the [[JAK2]] kinase (V617F) was found by multiple research groups <ref name=Kralovics>{{cite journal | author=Kralovics R, Passamonti F, Buser AS, Teo SS, et al |title=A gain-of-function mutation of JAK2 in myeloproliferative disorders| journal=N Engl J Med |date=2005 Apr 28 |volume=352|issue=17 |pages=1779-90}}</ref><ref name=Baxter>Baxter EJ et al. ''Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.'' Lancet. 2005;365:1054-61. PMID 15781101</ref> <ref name=Levine>Levine RL et al. ''Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.'' Cancer Cell. 2005;7:387-97. PMID 15837627</ref> to be associated with essential thrombocytosis in around 30% of cases. ''JAK2'' is a member of the [[Janus kinase]] family. This mutation may be helpful in making a diagnosis or as a target for future therapy. | |||
==References== | ==References== | ||
Revision as of 22:01, 20 January 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
The pathologic basis for this disease is unknown. However, essential thrombosis resembles polycythemia vera in that cells of the megakaryocytic series are more sensitive to growth factors. Platelets derived from the abnormal megakaryocytes do not function properly, which contributes to the clinical features of bleeding and thrombosis.
In 2005, a mutation in the JAK2 kinase (V617F) was found by multiple research groups [1][2] [3] to be associated with essential thrombocytosis in around 30% of cases. JAK2 is a member of the Janus kinase family. This mutation may be helpful in making a diagnosis or as a target for future therapy.
References
- ↑ Kralovics R, Passamonti F, Buser AS, Teo SS; et al. (2005 Apr 28). "A gain-of-function mutation of JAK2 in myeloproliferative disorders". N Engl J Med. 352 (17): 1779–90. Check date values in:
|date=(help) - ↑ Baxter EJ et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-61. PMID 15781101
- ↑ Levine RL et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-97. PMID 15837627