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Test ID: MDM2 FISH Testing
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MDM2 FISH Testing
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(MDM2) Mouse Double Minute 2 homolog / E3 ubiquitin-protein ligase.
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Useful For
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MDM2 FISH testing aids in the differential diagnosis between well-differentiated liposarcoma and benign lipoma in individuals diagnosed with or suspected of having well-differentiated liposarcoma based on tissue morphology.
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Method name and description
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Interphase Fluorescence In Situ Hybridization (I-FISH) study.
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Clinical information
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The histological discrimination of Well-Differentiated Liposarcoma / Atypical Lipomatous Tumor (WDL/ALT) from lipoma can be diagnostically challenging.
However, standard cytogenetic identification of ring and giant rod chromosomes strongly support the diagnosis of WDL/ALT. These abnormal chromosomes are mainly composed of amplified sequences derived from chromosome bands 12q13-15, and contain several amplified genes including MDM2, CPM, CDK4, and TSPAN31. MDM2 is amplified up to 30% of other types of sarcomas and >99% in WDL.
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Specimen type / Specimen volume / Specimen container
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Specimen Type: Tissue Block/ Slide
Container/Tube: Slides from Tissue block
Specimen Volume: 1stained H&E slide - 4 unstained slides
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Relevant clinical information to be provided
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Storage and transport instructions
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Ambient temperature for transport.
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Specimen Rejection Criteria
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Consistent with Diagnostic Genomic Division-Cytogenetics and Molecular Cytogenetics policies.
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Biological reference intervals and clinical decision values
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Interpretation:
A positive result indicates amplification of the MDM2 gene locus (12q15) and provisions the diagnosis of (WDL/ALT)-well-differentiated liposarcoma/atypical lipomatous tumor.
A negative result indicates the absence of amplification for MDM2 gene locus (12q15). However, negative results do not eliminate the diagnosis of WDL/ALT. Amplification differs in different tumors and within the same tumor.
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Factors affecting test performance and result interpretation
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Turnaround time / Days and times test performed / Specimen retention time
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Days test performed: Sunday-Wednesday: 7:00 -15:00
Turnaround Time: 14 days
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