PMID- 23453270 OWN - NLM STAT- MEDLINE DCOM- 20141021 LR - 20151119 IS - 1878-4119 (Electronic) IS - 1010-5182 (Linking) VI - 41 IP - 8 DP - 2013 Dec TI - Amplification of the PPFIA1 gene region on 11q13 in oral squamous cell carcinomas (OSCC). PG - 845-9 LID - S1010-5182(13)00056-5 [pii] LID - 10.1016/j.jcms.2013.01.040 [doi] AB - INTRODUCTION: 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. MATERIAL AND 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. DISCUSSION: 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. CI - Copyright (c) 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved. FAU - Blessmann, Marco AU - Blessmann M AD - Department of Oral and Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. FAU - Al-Dam, Ahmed AU - Al-Dam A FAU - Hanken, Henning AU - Hanken H FAU - Assaf, Alexandre T AU - Assaf AT FAU - Riecke, Bjorn AU - Riecke B FAU - Klatt, Jan AU - Klatt J FAU - Simon, Ronald AU - Simon R FAU - Sauter, Guido AU - Sauter G FAU - Heiland, Max AU - Heiland M FAU - Kluwe, Lan AU - Kluwe L FAU - Grobe, Alexander AU - Grobe A LA - eng PT - Journal Article DEP - 20130226 PL - Scotland TA - J Craniomaxillofac Surg JT - Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery JID - 8704309 RN - 0 (Adaptor Proteins, Signal Transducing) RN - 0 (Biomarkers, Tumor) RN - 0 (CCND1 protein, human) RN - 0 (Cell Adhesion Molecules) RN - 0 (DNA Probes) RN - 0 (DNA, Neoplasm) RN - 0 (PPFIA1 protein, human) RN - 136601-57-5 (Cyclin D1) SB - IM MH - Adaptor Proteins, Signal Transducing/*genetics MH - Biomarkers, Tumor/analysis MH - Carcinoma, Squamous Cell/*genetics MH - Cell Adhesion Molecules/*genetics MH - Chromosomes, Human, Pair 11/*genetics MH - Cyclin D1/genetics MH - DNA Probes MH - DNA, Neoplasm/genetics MH - Female MH - Gene Amplification/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Laryngeal Neoplasms/genetics MH - Male MH - Mouth Neoplasms/*genetics MH - Neoplasm Grading MH - Neoplasm Staging MH - Oligonucleotide Array Sequence Analysis MH - Pharyngeal Neoplasms/genetics MH - Tissue Array Analysis OTO - NOTNLM OT - Amplification OT - Biomarker OT - Cyclin D1 OT - Oral squamous cell carcinoma OT - PPFIA1 OT - Target therapy EDAT- 2013/03/05 06:00 MHDA- 2014/10/22 06:00 CRDT- 2013/03/05 06:00 PHST- 2012/09/26 00:00 [received] PHST- 2013/01/05 00:00 [revised] PHST- 2013/01/07 00:00 [accepted] PHST- 2013/03/05 06:00 [entrez] PHST- 2013/03/05 06:00 [pubmed] PHST- 2014/10/22 06:00 [medline] AID - S1010-5182(13)00056-5 [pii] AID - 10.1016/j.jcms.2013.01.040 [doi] PST - ppublish SO - J Craniomaxillofac Surg. 2013 Dec;41(8):845-9. doi: 10.1016/j.jcms.2013.01.040. Epub 2013 Feb 26.