You are here

Article Text

Article menu

other Versions

Download PDFPDF
Gene of the month
MDM2 for the practicing pathologist: a primer
  1. Aswathy Ashok Menon1,
  2. Vikram Deshpande2,
  3. David Suster3
  1. 1Department of Pathology, Neuberg Anand Reference Laboratory, Bengaluru, Karnataka, India
  2. 2Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA
  3. 3Department of Pathology, Rutgers University New Jersey Medical School, Newark, New Jersey, USA
  1. Correspondence to Dr David Suster; dssusterdi{at}gmail.com

Abstract

The mouse double minute 2 (MDM2) gene is located on the long arm of chromosome 12 and is the primary negative regulator of p53. The MDM2 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 MDM2 may occur through various mechanisms and contribute to the pathogenesis of many human tumours and some non-neoplastic diseases. Detection of MDM2 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 MDM2 gene and discusses practical diagnostic applications pertaining to human tumour biology.

  • Sarcoma
  • DIAGNOSIS
  • GENE AMPLIFICATION

https://doi.org/10.1136/jcp-2022-208687

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Handling editor Runjan Chetty.

    • Twitter @dr_amenona, @MDsuster

    • Contributors All authors made substantial contributions to the conception or design of the work; or the acquisition, analysis or interpretation of data for the work; drafted and revising it critically for important intellectual content; approval of the final version to be published; all authors are accountable for all aspects of the work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; internally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.