Polycythemia vera causes
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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 gene (V617F mutation). This mutation occurs in more than 98% of cases of polycythemia vera. The JAK2 exon 12 mutation occurs in a small proportion of patients. There are no other causes of this disease.
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.
Causes
Common Causes
Common causes of polycythemia vera may include:[2]
- JAK2 V617F gene mutation. This mutation is found in more than 95% of cases of polycythemia vera. It is a point mutation in which valine is replaced by phenylalanine at the 617th position of the gene. The mutation occurs in exon 14 of the JAK2 gene.
Less Common Causes
Less common causes of polycythemia vera include:[2]
- JAK2 exon 12 gene mutation
- LNK (SH2B3) gene mutation (inhibitor of JAK-STAT signaling pathway)
- TET2 gene mutation
- SF3B1 gene mutation (involved in RNA splicing)
- DNMT3A gene mutation (involved in epigenetic regulation)
- ASXL1 gene mutation
Genetic Causes
- Polycythemia vera is caused by a mutation in various genes. They include:[2]
- JAK2
- TET2
- SF3B1
- DNMT3A
- ASXL1
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical/Poisoning | No underlying causes |
| Dental | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | JAK2 V617F point mutation, JAK2 exon 12, TET2, SF3B1, DNMT3A, ASXL1 |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | No underlying causes |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
List the causes of the disease in alphabetical order:
- ASXL1 gene mutation
- DNMT3A gene mutation
- JAK2 gene mutation
- SF3B1 gene mutation
- TET2 gene mutation
References
- ↑ 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.
- ↑ 2.0 2.1 2.2 Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK, Abboud CN, Adler K, Heaney ML, Jabbour EJ, Komrokji RS, Moliterno AR, Ritchie EK, Rice L, Mascarenhas J, Hoffman R (November 2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F". J. Clin. Oncol. 33 (33): 3953–60. doi:10.1200/JCO.2015.61.6474. PMC 4979103. PMID 26324368.