title: Use of molecular testing to identify a cluster of patients with polycythemia vera in eastern Pennsylvania.
abstract: BACKGROUND
  The role of the environment in the origin of polycythemia vera has not been well documented. Recently, molecular diagnostic tools have been developed to facilitate the diagnosis of polycythemia vera. A cluster of patients with polycythemia vera was suspected in three countries in eastern Pennsylvania where there have long been a concern about environment hazards.
  
  
  METHODS
  Rigorous clinical criteria and JAK2 617V>F testing were used to confirm the diagnosis of polycythemia vera in patients in this area. Participants included cases of polycythemia vera from the 2001 to 2005 state cancer registry as well as self- and physician-referred cases.
  
  
  RESULTS
  A diagnosis of polycythemia vera was confirmed in 53% of 62 participants using WHO criteria, which includes JAK2 617V>F testing. A statistically significant cluster of cases (P < 0.001) was identified where the incidence of polycythemia vera was 4.3 times that of the rest of the study area. The area of the cluster contained numerous sources of hazardous material including waste-coal power plants and U.S. Environmental Protection Agency Superfund sites.
  
  
  CONCLUSIONS
  The diagnosis of polycythemia vera based solely on clinical criteria is frequently erroneous, suggesting that our prior knowledge of the epidemiology of this disease might be inaccurate. The JAK2 617V>F mutational analysis provides diagnostic clarity and permitted the confirmation of a cluster of polycythemia vera cases not identified by traditional clinical and pathologic diagnostic criteria. The close proximity of this cluster to known areas of hazardous material exposure raises concern that such environmental factors might play a role in the origin of polycythemia vera.
authors.affiliation: Agency for Toxic Substances and Disease Registry, Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors.forename: Vincent
authors.initials: V
authors.lastname: Seaman
authors.forename: Aisha
authors.initials: A
authors.lastname: Jumaan
authors.forename: Emad
authors.initials: E
authors.lastname: Yanni
authors.forename: Brian
authors.initials: B
authors.lastname: Lewis
authors.forename: Jonathan
authors.initials: J
authors.lastname: Neyer
authors.forename: Paul
authors.initials: P
authors.lastname: Roda
authors.forename: Mingjiang
authors.initials: M
authors.lastname: Xu
authors.forename: Ronald
authors.initials: R
authors.lastname: Hoffman
mesh_terms: D005260:Female; D006801:Humans; D015994:Incidence; D007407:Interviews as Topic; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010414:Pennsylvania / Q000453:epidemiology; D016012:Poisson Distribution; D011087:Polycythemia Vera / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D012042:Registries; D011795:Surveys and Questionnaires
chemical_list: D053614:Janus Kinase 2