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

J Pathol. 2004 Jan;202(1):95-102. doi: 10.1002/path.1495.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abdominal Neoplasms / genetics
  • Adult
  • Aged
  • Cell Line, Tumor
  • Cyclin-Dependent Kinase 4
  • Cyclin-Dependent Kinases / analysis
  • Cyclin-Dependent Kinases / genetics*
  • DNA, Neoplasm / analysis
  • Extremities
  • Female
  • Gene Amplification / genetics*
  • Head and Neck Neoplasms / genetics
  • Humans
  • Lipoma / diagnosis
  • Lipoma / genetics*
  • Liposarcoma / diagnosis
  • Liposarcoma / genetics*
  • Male
  • Middle Aged
  • Nuclear Proteins*
  • Paraffin Embedding / methods
  • Polymerase Chain Reaction / methods*
  • Proto-Oncogene Proteins / analysis
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-mdm2
  • Retroperitoneal Neoplasms / genetics


  • DNA, Neoplasm
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2
  • CDK4 protein, human
  • Cyclin-Dependent Kinase 4
  • Cyclin-Dependent Kinases