title: Amplification of the PPFIA1 gene region on 11q13 in oral squamous cell carcinomas (OSCC).
abstract: BACKGROUND
  Analyzing chromosomal amplifications delivers valuable information for identification of oncogenes. For carcinomas of the oral cavity only few genes have been identified in amplified regions. The aim of this study was to search genes in amplified regions as possible biomarkers and targets for novel therapies.
  
  
  METHODS
  DNA from 10 carcinomas of the floor of the oral cavity was examined using a 500K Array GeneChip (Affymetrix 6.0) to detect chromosomal losses, gains or amplifications. Suspicious alterations were validated on tissue microarrays using fluorescence in situ hybridization (FISH) with respective probes.
  
  
  RESULTS
  FISH-validation on tissue arrays confirmed PPFIA1 amplifications as one of the most frequent events (32.6%). High (10-20 signals) and low (<10 signals) amplification of PPFIA1 was found in 10.9% (5/46) and 21.7% (10/46) tumours, respectively. Fine mapping with overlapping FISH probes showed co-amplification of PPFIA1 and the Cyclin D1 gene which are approximately 600 kb apart from each other, likely in the same amplicon.
  
  
  CONCLUSIONS
  PPFIA1 was frequently co-amplified with the Cyclin D1 gene in oral carcinomas and could present a biomarker as well as a novel target for specific gene therapy. Further studies are necessary to investigate the role of PPFIA1 in development and pathogenesis of oral carcinomas.
authors: Department of Oral and Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
authors: Marco
authors: M
authors: Blessmann
authors: Ahmed
authors: A
authors: Al-Dam
authors: Henning
authors: H
authors: Hanken
authors: Alexandre T
authors: AT
authors: Assaf
authors: Björn
authors: B
authors: Riecke
authors: Jan
authors: J
authors: Klatt
authors: Ronald
authors: R
authors: Simon
authors: Guido
authors: G
authors: Sauter
authors: Max
authors: M
authors: Heiland
authors: Lan
authors: L
authors: Kluwe
authors: Alexander
authors: A
authors: Gröbe
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000032:analysis; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019938:Cyclin D1 / Q000235:genetics; D015342:DNA Probes; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005784:Gene Amplification / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007822:Laryngeal Neoplasms / Q000235:genetics; D008297:Male; D009062:Mouth Neoplasms / Q000235:genetics*; D060787:Neoplasm Grading; D009367:Neoplasm Staging; D020411:Oligonucleotide Array Sequence Analysis; D010610:Pharyngeal Neoplasms / Q000235:genetics; D046888:Tissue Array Analysis
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D014408:Biomarkers, Tumor; C530104:CCND1 protein, human; D015815:Cell Adhesion Molecules; D015342:DNA Probes; D004273:DNA, Neoplasm; C094398:PPFIA1 protein, human; D019938:Cyclin D1
keywords: Amplification; Biomarker; Cyclin D1; Oral squamous cell carcinoma; PPFIA1; Target therapy