title: Fluorescence in situ hybridization analysis of the PRV-1 gene in polycythemia vera: implications for its role in diagnosis and pathogenesis.
abstract: OBJECTIVE
  In polycythemia vera (PV) there is no specific clonal marker because the molecular lesion responsible for PV is unknown. The recent demonstration that the PRV-1 gene is overexpressed in granulocytes from patients with PV provided the rationale for the current study to investigate whether PRV-1 is structurally rearranged, thus explaining its aberrant expression.
  
  
  METHODS
  Fluorescence in situ hybridization was used to determine chromosomal localization of PRV-1 and to study whether the PRV1 gene is rearranged in 26 patients with PV.
  
  
  RESULTS
  PRV-1 was localized to chromosome 19, band region q13.12-2. Structural rearrangements of PRV-1 were evaluated in bone marrow cells from 26 patients with PV: 14 with a normal karyotype and 12 with an abnormal karyotype. None of 150 metaphase cells or more than 10,000 interphase cells demonstrated PRV-1 gene deletion, amplification, or separation of the probe signal, which would indicate a PRV-1 rearrangement.
  
  
  CONCLUSIONS
  These findings are consistent with a lack of structural rearrangement of PRV-1 in patients with PV. Thus, overexpression of PRV-1 in granulocytes from patients with PV is related to mechanisms that do not involve structural genetic changes.
authors.affiliation: Tumor Cytogenetics Laboratory, Division of Hematology, Department of Medicine, The Mount Sinai School of Medicine, 1 Gustave L. Levy Place, New York, NY 10029, USA. Vesna.Najfeld@mssm.edu
authors.forename: Vesna
authors.initials: V
authors.lastname: Najfeld
authors.forename: Shai
authors.initials: S
authors.lastname: Fuchs
authors.forename: Paul
authors.initials: P
authors.lastname: Merando
authors.forename: Kimberly
authors.initials: K
authors.lastname: Lezon-Geyda
authors.forename: Steven
authors.initials: S
authors.lastname: Fruchtman
mesh_terms: D015415:Biomarkers / Q000032:analysis; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D058851:GPI-Linked Proteins; D015870:Gene Expression; D015321:Gene Rearrangement; D006098:Granulocytes / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007519:Isoantigens; D008297:Male; D008562:Membrane Glycoproteins; D011087:Polycythemia Vera / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000032:analysis / Q000235:genetics*
chemical_list: D015415:Biomarkers; C407242:CD177 protein, human; D058851:GPI-Linked Proteins; D007519:Isoantigens; D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface