title: Detection of loss of heterozygosity in patients with urinary bladder carcinoma: neoplastic tissue vs. urine sediment cells.
abstract: BACKGROUND
  Loss of heterozygosity (LOH) is frequently observed in urinary bladder neoplasms. In the reported study, an attempt was undertaken to determine the loss of heterozygosity of TP53(17p13), RB1(13q14), CDKN2A/ ARF(9p21) genes in DNA from neoplastic tissue, collected from patients with diagnosed urinary bladder carcinoma, and to compare the results with those of LOH evaluation in DNA isolated from urine sediment cells.
  
  
  METHODS
  After isolation, DNA was amplified (PCR) by means of primers to five polymorphic microsatellite markers, the products being then separated on agarose gel. Following the method, a total of 125 DNA samples were obtained, isolated from neoplastic cells, together with 125 corresponding DNA samples, isolated from urine sediment cells.
  
  
  RESULTS
  The loss of heterozygosity in at least one marker was identified in 39.2%. (49/125) of DNA from studied tumors and in 34.3% (43/125) of DNA samples, isolated from urine sediment cells. An analysis of LOH from the DNA, isolated from urine sediment cells, allowed for identification of 81.8% of neoplastic tumors with 99.7% specificity.
  
  
  CONCLUSIONS
  Our observations have demonstrated that LOH within 13q14, 17p13 and 9p21 loci is more often observed in clinically more advanced neoplasms. LOH in 17p13 locus is more frequently found in tumors at high histopathological stage, while in low-stage neoplasms, LOH is most often observed on chromosome 9. The high sensitivity (81.8%) and specificity (99.7%) of LOH studies in DNA, isolated from urine sediment cells, make this technique an advantageous, non-invasive method for detection and screening of bladder cancer.
authors.affiliation: Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Traczyk
authors.affiliation: Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.
authors.forename: Edyta
authors.initials: E
authors.lastname: Borkowska
authors.affiliation: Department of Urology, The John Paul II Voivodeship Hospital in Bełchatów, Poland.
authors.forename: Adam
authors.initials: A
authors.lastname: Jędrzejczyk
authors.affiliation: Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.
authors.forename: Michał
authors.initials: M
authors.lastname: Pietrusiński
authors.affiliation: The Clinic of Urology at the "Lekarze Urolodzy Marek Rożniecki i Partnerzy" Non-Public Health Care Unit, Łask, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Rożniecki
authors.affiliation: Department of Urology, The John Paul II Voivodeship Hospital in Bełchatów, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Marks
authors.affiliation: Chair of Clinical and Laboratory Genetics, Medical University of Łódź, Poland.
authors.forename: Bogdan
authors.initials: B
authors.lastname: Kałużewski
keywords: CDKN2A/ARF; LOH; RB1; TP53; bladder cancer; loss of heterozygosity