Essential thrombocytosis causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Soujanya Thummathati, MBBS [2]Parth Vikram Singh, MBBS[3]
Overview
Overview
Essential thrombocytosis may be caused by a mutation in the janus kinase 2 (JAK2) gene (in >50% of the patients), CALR, MPL, or THPO genes. Approximately 90% of patients have JAK-STAT pathway driver variants: JAK2 (64%), CALR (23%), and MPL (4%). About 10% are triple-negative (no JAK2/CALR/MPL variant).[1]
Causes
Causes
Essential thrombocytosis may be caused by a mutation in one of the following genes:[2]
- Janus kinase 2 (JAK2) gene (in 50% of the patients)
- CALRgene
- MPL gene
- THPO gene
Approximately 90% of patients have JAK-STAT pathway driver variants: JAK2 (64%), CALR (23%), and MPL (4%). About 10% are triple-negative (no JAK2/CALR/MPL variant).
References
References
- ↑ Tefferi A, Gangat N, Loscocco GG, Guglielmelli P, Szuber N, Pardanani A, Orazi A, Barbui T, Vannucchi AM (February 2025). “Essential Thrombocythemia: A Review”. JAMA. 333 (8): 701–714. doi:10.1001/jama.2024.25349. PMID 39869325 Check
|pmid=value (help). - ↑ Essential thrombocythemia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/essential-thrombocythemia Accessed on November 16, 2015.
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