MDM2 gene is located in the q15 region of chromosome 12, and the encoded P90 protein can bind to P53 gene, causing P53 gene to lose its normal function, leading to tumorigenesis.
PROBE DESCRIPTION
MDM2 gene amplification probe uses an orange-red dye to label the MDM2 gene region, and a green chromosome to label chromosome 12 centromere region (CEP12). MDM2 gene marker region is located at 12q15, and the CEP12 probe adopts an alpha satellite sequence, which has extremely high specificity and does not hybridize with other chromosome centromeres to produce noisy spots.
CLINICAL SIGNIFICANCE
MDM2 gene amplification is the most common abnormality in fibrosarcoma and can assist in the diagnosis of fibrosarcoma; this gene amplification also occurs in osteosarcoma (16%) and esophageal cancer (13%). Used to guide the treatment of MDM2 inhibitors.
References
Larousserie F, et al. (2013) Eur J Radiol 82: 2149-53.