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MDM2
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Interpretation 329
Tier 1
MDM2
Variants
MDM2 copy number gain
Primary Sites
Soft Tissue
Tumor Types
Liposarcoma
Interpretation

MDM2 encodes a nuclear-localized E3 ubiquitin ligase that may promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. Overexpression or amplification of this locus has been detected in a variety of different cancers. MDM2 copy number gain has been shown to be useful in distinguishing dedifferentiated liposarcoma from spindle and pleomorphic sarcomas . The prognostic value of MDM2 copy number gain remains to be fully elucidated. Small molecular inhibitors of the MDM2:p53 axis are currently in early phase clinical trials for a number of malignancies.

Citations
  1. Kammerer-Jacquet SF, et al. Differential diagnosis of atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: utility of p16 in combination with MDM2 and CDK4 immunohistochemistry. Hum Pathol 2017;59():34-40
Last updated: 2017-01-20 03:30:38 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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