title: Evaluation of MDM2 and CDK4 amplification by real-time PCR on paraffin wax-embedded material: a potential tool for the diagnosis of atypical lipomatous tumours/well-differentiated liposarcomas.
abstract: Atypical lipomatous tumours/well-differentiated liposarcomas and dedifferentiated liposarcomas are characterized by 12q13-15 region amplification. In contrast, this molecular event has not been reported in benign lipomas. Within the 12q13-15 chromosomal region, the MDM2, SAS, HMGA2, and CDK4 genes are the most frequent targets of amplification. A series of lipomas (36 cases) and liposarcomas (48 cases) was analysed for MDM2 and CDK4 gene amplification by real-time PCR. MDM2 and CDK4 gene amplification was detected in 2.8% and 5.6% of lipomas and 98.2% and 82.4% of liposarcomas, respectively. Moreover, co-amplification of the two genes as well as a higher-level amplification was observed more frequently in dedifferentiated liposarcomas than in atypical lipomatous tumours/well-differentiated liposarcomas. Real-time PCR proved to be a fast and reliable method to characterize lipomas and liposarcomas by quantification of MDM2 and CDK4 gene amplification. It is applicable to paraffin wax-embedded tissues and could be useful when histological diagnosis is difficult.
authors.affiliation: Department of Pathology, Institut Bergonié, Bordeaux, France. hostein@bergonie.org
authors.forename: I
authors.initials: I
authors.lastname: Hostein
authors.forename: M
authors.initials: M
authors.lastname: Pelmus
authors.forename: A
authors.initials: A
authors.lastname: Aurias
authors.forename: F
authors.initials: F
authors.lastname: Pedeutour
authors.forename: S
authors.initials: S
authors.lastname: Mathoulin-Pélissier
authors.forename: J M
authors.initials: JM
authors.lastname: Coindre
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics; D000328:Adult; D000368:Aged; D045744:Cell Line, Tumor; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases / Q000032:analysis / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis; D005121:Extremities; D005260:Female; D005784:Gene Amplification / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000235:genetics; D006801:Humans; D008067:Lipoma / Q000175:diagnosis / Q000235:genetics*; D008080:Liposarcoma / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins; D016612:Paraffin Embedding / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods*; D011518:Proto-Oncogene Proteins / Q000032:analysis / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2; D012186:Retroperitoneal Neoplasms / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2; C495900:CDK4 protein, human; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases