Monday 26 April 2010
During the last 5 years, it was discovered that the JAK2V617F somatic mutation is present in virtually all patients with polycythemia vera and a large proportion of patients with essential thrombocythemia, primary myelofibrosis, and refractory anemia with ring sideroblasts and thrombocytosis.
As a result, JAK2-V617F was incorporated as a new clonal marker in the 2008 revision of the WHO diagnostic criteria.
Current methods for JAK2 genotyping include direct sequencing, pyrosequencing, allele-specific PCR with electrophoresis, restriction fragment length polymorphism, real-time PCR, DNA-melting curve analysis, and denaturing HPLC.
Visual screening for JAK2V617F mutation by a disposable dipstick. Konstantou JK, Iliadi AC, Ioannou PC, Christopoulos TK, Anagnostopoulos NI, Kanavakis E, Traeger-Synodinos J. Anal Bioanal Chem. 2010 Apr 29. PMID: 20428846
No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. Wu D, Dutra B, Lindeman N, Takahashi H, Takeyama K, Harris NL, Pinkus GS, Longtine J, Shipp M, Kutok JL. Diagn Mol Pathol. 2009 Sep;18(3):144-9. PMID: 19704259