title: Amplification of 17p11.2 approximately p12, including PMP22, TOP3A, and MAPK7, in high-grade osteosarcoma.
abstract: Amplification of region 17p11.2 approximately p12 has been found in 13%-29% of high-grade osteosarcomas, suggesting the presence of an oncogene or oncogenes that may contribute to their development. To determine the location of these putative oncogenes, we established 17p11.2 approximately p12 amplification profiles by semiquantitative PCR, using 15 microsatellite markers and seven candidate genes in 19 high-grade osteosarcomas. Most of the tumors displayed complex amplification profiles, with frequent involvement of marker D17S2041 in 17p12 and TOP3A in 17p11.2 and, in some cases, very high-level amplification of PMP22 and MAPK7 in 17p11.2. Our findings suggest that multiple amplification targets, including PMP22, TOP3A, and MAPK7 or genes close to these candidate oncogenes, may be present in 17p11.2 approximately p12 and thus contribute to osteosarcoma tumorigenesis.
authors.affiliation: Department of Human Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Maaike
authors.initials: M
authors.lastname: van Dartel
authors.forename: Peter W A
authors.initials: PW
authors.lastname: Cornelissen
authors.forename: Sandra
authors.initials: S
authors.lastname: Redeker
authors.forename: Maija
authors.initials: M
authors.lastname: Tarkkanen
authors.forename: Sakari
authors.initials: S
authors.lastname: Knuutila
authors.forename: Pancras C W
authors.initials: PC
authors.lastname: Hogendoorn
authors.forename: Andries
authors.initials: A
authors.lastname: Westerveld
authors.forename: Ingrid
authors.initials: I
authors.lastname: Gomes
authors.forename: Johannes
authors.initials: J
authors.lastname: Bras
authors.forename: Theo J M
authors.initials: TJ
authors.lastname: Hulsebos
mesh_terms: D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics / Q000648:ultrastructure*; D004264:DNA Topoisomerases, Type I / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005784:Gene Amplification; D005819:Genetic Markers; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D048054:Mitogen-Activated Protein Kinase 7; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics*; D009857:Oncogenes; D012516:Osteosarcoma / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction
chemical_list: D004273:DNA, Neoplasm; D005819:Genetic Markers; D008565:Membrane Proteins; C489785:PXMP2 protein, human; C481581:MAPK7 protein, human; D048054:Mitogen-Activated Protein Kinase 7; D020928:Mitogen-Activated Protein Kinases; D004264:DNA Topoisomerases, Type I