MDM2 gene amplification
Containers - Adult
FFPE block / H&E slide / Pathology report
Old Dalkeith Road
Referral specimens should be sent directly to Molecular Pathology at the above address (see transport recommendations). For patients with pathology specimens held within NHS Lothian there is no need to arrange transport of specimens.
How to request
Monday - Friday. 09:00 – 17:00
Turnaround times will vary depending on the nature of the report required.
Individual FISH results should be available within 10 working days. See results.
This test is accredited to ISO 15189.
Please note: alternative methodologies may be used. Full details will be included in all reports.
General additional information
Mouse double minute 2 homolog is encoded by the MDM2 gene at 12q15. It is a negative regulator of the TP53 tumour suppressor gene, with MDM2 amplification thus promoting cell proliferation. Ring and giant chromosomes composed of 12q13-15 amplicons are found in well-differentiated liposarcoma/atypical lipomatous tumour and dedifferentiated liposarcoma and are used clinically to distinguish these from benign lipomatous neoplasms as well as other high grade sarcomas. The MDM2 gene lies telomeric to the cyclin-dependent kinase 4 (CDK4) gene on chromosome 12 and the two are frequently co-amplified.
A positive MDM2 gene amplification result is considered to be supportive evidence where a pathological diagnosis of well-differentiated liposarcoma/atypical lipomatous tumour or dedifferentiated liposarcoma is being considered.
MDM2 gene amplifications are detected by chromosome enumeration fluorescence in-situ hybridisation (FISH) analysis. Formal counting of the MDM2 amplification ratio (relative to CEN12) is not normally required, but may be performed where there is low level amplification or a suspicion of aneuploidy.
For clinical advice on appropriate investigations, please contact our Molecular Pathology team.