Abstract
Background/Aims In 2005, researchers described an acquired mutation in JAK-STAT signaling, the JAK2V617F mutation which is present in 95% of patients with P. vera (PV). Within three years, testing for this mutation led to new World Health Organization (WHO) criteria for the diagnosis of PV, and other related myeloproliferative neoplasms. This project was initiated to assess the impact of molecular testing within a multiphysician, multicenter group practice and ultimately to use this knowledge to develop educational programs regarding how best to evaluate patients with polycythemia.
Methods In 2001, Geisinger Health Systems implemented use of an electronic medical records system including most outpatient sites. This database was searched, identifying 268 patients who had at least one office visit between 2004 and 2009 with a primary (billing) code of PV. The clinician’s diagnosis, when available, was determined from progress notes. There were 204 cases with complete records, which were scanned for JAK2V617F mutation testing, serum erythropoietin level, splenomegaly, and bone marrow histology. Results of the diagnostic evaluation, and the clinician’s diagnosis, were compared with both the PV Study Group and subsequent 2008 WHO criteria.
Results Of the 204 fully evaluable patients, 56 never underwent JAK2V617F mutation testing, and only 11 met the 1971 PV study group criteria for that diagnosis. There were 87 patients who were positive for the JAK2V617F mutation, but only 48 met the 2008 WHO criteria for the diagnosis of PV. JAK2V617F mutation testing, when performed, led to a diagnosis change in 10% of patients originally diagnosed with PV prior to molecular testing. Serum erythropoietin levels were obtained in only 118 of the 204 fully evaluable patients, and were below 4 in only 52 of these patients.
Conclusions From this data, we created a cost-effective approach to the assessment of PV, and a continuing medical education lecture. This lecture has subsequently been delivered at numerous hospitals ranging from small community hospitals in the PV cluster region to several major university centers. This presentation will provide details of both the diagnostic paradigm and the subsequent lecture.
