Polycythemia vera causes: Difference between revisions
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Polycythemia vera is caused by a mutation in the ''[[JAK2]]'' kinase (V617F) gene.<ref name="pmid15781101">{{cite journal| author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al.| title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. | journal=Lancet | year= 2005 | volume= 365 | issue= 9464 | pages= 1054-61 | pmid=15781101 | doi=10.1016/S0140-6736(05)71142-9 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15781101 }} </ref> | Polycythemia vera is caused by a mutation in the ''[[JAK2]]'' kinase (V617F) gene.<ref name="pmid15781101">{{cite journal| author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al.| title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. | journal=Lancet | year= 2005 | volume= 365 | issue= 9464 | pages= 1054-61 | pmid=15781101 | doi=10.1016/S0140-6736(05)71142-9 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15781101 }} </ref> | ||
==Common Causes== | ==Common Causes== | ||
Polycythemia vera is caused by a mutation in the ''[[JAK2]]'' gene. This is a member of the Janus kinase family. The most common mutation is point mutation in which valine is replaced by phenylalanine at the 617th position.<ref name="pmid15781101">{{cite journal| author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al.| title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. | journal=Lancet | year= 2005 | volume= 365 | issue= 9464 | pages= 1054-61 | pmid=15781101 | doi=10.1016/S0140-6736(05)71142-9 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15781101 }} </ref> This mutation is found in more than 95% of cases of polycythemia vera. The JAK2 exon 12 mutation can also cause polycythemia vera. | Polycythemia vera is caused by a mutation in the ''[[JAK2]]'' gene. This is a member of the Janus kinase family. The most common mutation is point mutation in which valine is replaced by phenylalanine at the 617th position, also referred to as JAK2 V617F.<ref name="pmid15781101">{{cite journal| author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al.| title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. | journal=Lancet | year= 2005 | volume= 365 | issue= 9464 | pages= 1054-61 | pmid=15781101 | doi=10.1016/S0140-6736(05)71142-9 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15781101 }} </ref> This mutation is found in more than 95% of cases of polycythemia vera. The mutation occurs in exon 14 of the JAK2 gene. The JAK2 exon 12 mutation is a separate mutation that can also cause polycythemia vera. Both of these mutations are sporadic and occur within the hematopoietic stem cell. Genetic inheritance of JAK2 mutations is unlikely to occur. There are no other known causes of polycythemia vera. | ||
==References== | ==References== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2] Shyam Patel [3]
Overview
Polycythemia vera is caused by a mutation in the JAK2 kinase (V617F) gene.[1]
Common Causes
Polycythemia vera is caused by a mutation in the JAK2 gene. This is a member of the Janus kinase family. The most common mutation is point mutation in which valine is replaced by phenylalanine at the 617th position, also referred to as JAK2 V617F.[1] This mutation is found in more than 95% of cases of polycythemia vera. The mutation occurs in exon 14 of the JAK2 gene. The JAK2 exon 12 mutation is a separate mutation that can also cause polycythemia vera. Both of these mutations are sporadic and occur within the hematopoietic stem cell. Genetic inheritance of JAK2 mutations is unlikely to occur. There are no other known causes of polycythemia vera.
References
- ↑ 1.0 1.1 Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S; et al. (2005). "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders". Lancet. 365 (9464): 1054–61. doi:10.1016/S0140-6736(05)71142-9. PMID 15781101.