MDM2, 12q15, Red
D12Z1, 12p11.1-q11.1, Green
The MDM2 amplification probe consists of a 146kb red probe spanning the MDM2 gene and neighbouring CPM gene, with a green centromeric probe for chromosome 12 provided as a control.
The MDM2 gene, located at 12q15, when overexpressed, enhances the tumourigenic potential of cells.
The oncogene product forms a tight complex with the p53 tumour suppressor protein and can inhibit p53 mediated transactivation, leading to escape from p53 regulated growth control1. The Murine Double Minute 2 (MDM2) gene has been shown to be amplified in around 7% of human tumours2.
Many tumours overexpress MDM2, the most common being soft tissue tumours (20%), osteosarcomas (16%) and oesophageal carcinomas (13%)3. The use of FISH in well differentiated liposarcoma has been a valuable diagnostic tool4,5, whilst small-molecule MDM2 inhibitors that could act as innovative therapeutic tools have also been identified6.
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