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MDM2
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Interpretation 196
Tier 1
MDM2
Variants
MDM2 copy number gain
Primary Sites
Bladder
Tumor Types
Urothelial Carcinoma
Interpretation

MDM2 encodes an E3 ubiquitin ligase that regulates tumor suppressor protein (eg, TP53) turnover through proteasomal degradation. MDM2 overexpression or amplification has been detected in a variety of different cancers including a subset of bladder cancer. Small molecular inhibitors of the MDM2:p53 axis are currently in early phase clinical trials for a number of malignancies.

Citations
  1. Bill KL, et al. SAR405838: A novel and potent inhibitor of the MDM2:p53 axis for the treatment of dedifferentiated liposarcoma. Clin Cancer Res 2015;():
  2. Binh MB, et al. MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data. Am J Surg Pathol 2005;29(10):1340-7
  3. Weaver J, et al. Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms. Mod Pathol 2008;21(8):943-9
  4. Jour G, et al. Prognostic relevance of Federation Nationale des Centres de Lutte Contre le Cancer grade and MDM2 amplification levels in dedifferentiated liposarcoma: a study of 50 cases. Mod Pathol 2015;28(1):37-47
  5. Italiano A, et al. Clinical and biological significance of CDK4 amplification in well-differentiated and dedifferentiated liposarcomas. Clin Cancer Res 2009;15(18):5696-703
  6. Lee S, et al. CDK4 amplification predicts recurrence of well-differentiated liposarcoma of the abdomen. PLoS One 2014;9(8):e99452
  7. Simon R, et al. Amplification pattern of 12q13-q15 genes (MDM2, CDK4, GLI) in urinary bladder cancer. Oncogene 2002;21(16):2476-83
  8. Chekaluk Y, et al. Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS One 2013;8(4):e60927
Last updated: 2016-06-07 02:15:31 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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