for the practicing pathologist: a primer.

J Clin Pathol

Department of Pathology, Rutgers University New Jersey Medical School, Newark, New Jersey, USA

Published: May 2023

The mouse double minute 2 () gene is located on the long arm of chromosome 12 and is the primary negative regulator of p53. The gene encodes an E3 ubiquitin-protein ligase that mediates the ubiquitination of p53, leading to its degradation. MDM2 enhances tumour formation by inactivating the p53 tumour suppressor protein. The MDM2 gene also has many p53-independent functions. Alterations of may occur through various mechanisms and contribute to the pathogenesis of many human tumours and some non-neoplastic diseases. Detection of amplification is used in the clinical practice setting to help diagnose multiple tumour types, including lipomatous neoplasms, low-grade osteosarcomas and intimal sarcoma, among others. It is generally a marker of adverse prognosis, and MDM2-targeted therapies are currently in clinical trials. This article provides a concise overview of the gene and discusses practical diagnostic applications pertaining to human tumour biology.

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Source
http://dx.doi.org/10.1136/jcp-2022-208687DOI Listing

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