Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Essential thrombocytosis causes
Introduction
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.
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]