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Title: FISH in polycythemia vera (PCV)

Trisomies 8 and 9 are the most common numerical abnormalities in polycythemia vera (PCV). However, their role in the pathogenesis of the disease is unclear as is their diagnostic or prognostic value. We evaluated the role of fluorescent in-situ hybridization (FISH) as compared to chromosome analysis in the detection of trisomies 8 or 9 in peripheral blood cells of 14 PCV and 5 secondary PCV patients. Using FISH, we found trisomies 8 and 9 in 10 PCV patients above the cutoff levels of 5%. However, no patient with the secondary PCV reached the cutoff level. Out of 10 PCV patients in whom the trisomy was detected by FISH, only in 3 was this trisomy also detected by routine cytogenetics. The incidence of the finding of trisomy 9 correlates with the duration of the disease, suggesting that this is not the primary event in PCV. FISH is a sensitive, convenient and rapid method for diagnosis and follow-up of chromosome aberrations in PCV patients. Application of FISH to larger cohort of patients may provide valuable information regarding their role in initiation and progession of the disease.
Authors:
; ;  [1]
  1. Meir General Hospital, Kfar-Saba (Israel) [and others
Publication Date:
OSTI Identifier:
134514
Report Number(s):
CONF-941009--
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1248
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 8; CHROMOSOMAL ABERRATIONS; DETECTION; DNA HYBRIDIZATION; SENSITIVITY; EFFICIENCY; PATIENTS; HEREDITARY DISEASES; DIAGNOSIS; HUMAN CHROMOSOME 9; FLUORESCENCE