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

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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. Copyright © 2004 John Wiley & Sons, Ltd.