Mutation screening for JAK2V617F: when to order the test and how to interpret the results.
With the application of adequately sensitive tests, it is now becoming evident that more than 90% of patients with conventionally-defined polycythemia vera (PV) carry the somatic JAK2V617F mutation in their granulocytes. However, the specific mutation is also found in other classic and atypical myeloproliferative disorders (MPD), albeit at a lesser frequency. In contrast, JAK2V617F has not been reported in patients with either reactive myeloproliferation or lymphoid disorders. Therefore, mutation screening for JAK2V617F can be considered as a myeloid-specific clonality assay and it is diagnostically most useful in the evaluation of "polycythemia".
Tefferi
Ayalew
A
Division of Hematology, Mayo Clinic, Rochester, 200 First Street SW, Rochester, MN 55905, USA. tefferi.ayalew@mayo.edu
Pardanani
Animesh
A
D019943:Amino Acid Substitution; D005260:Female; D005820:Genetic Testing; D006098:Granulocytes / Q000473:pathology; D006801:Humans; D053614:Janus Kinase 2; D008297:Male; D017354:Point Mutation; D011087:Polycythemia Vera / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D015203:Reproducibility of Results
D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2