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Ref Type Journal Article
PMID (36674856)
Authors Gambella A, Bertero L, Rondón-Lagos M, Verdun Di Cantogno L, Rangel N, Pitino C, Ricci AA, Mangherini L, Castellano I, Cassoni P
Title FISH Diagnostic Assessment of MDM2 Amplification in Liposarcoma: Potential Pitfalls and Troubleshooting Recommendations.
Journal Vol Issue Date Pages Journal Short Title
International journal of molecular sciences 24 2 2023 Jan 10 Int J Mol Sci
URL
Abstract Text MDM2 amplification represents the leading oncogenic pathway and diagnostic hallmark of liposarcoma, whose assessment is based on Fluorescence In Situ Hybridization (FISH) analysis. Despite its diagnostic relevance, no univocal interpretation criteria regarding FISH assessments of MDM2 amplification have been established so far, leading to several different approaches and potential diagnostic misinterpretations. This study aims to address the most common issues and proposes troubleshooting guidelines for MDM2 amplification assessments by FISH. We retrospectively retrieved 51 liposarcomas, 25 Lipomas, 5 Spindle Cell Lipoma/Pleomorphic Lipomas, and 2 Atypical Spindle Cell Lipomatous Tumors and the corresponding MDM2 FISH analysis. We observed MDM2 amplification in liposarcomas cases only (43 out of 51 cases) and identified three MDM2-amplified patterns (scattered (50% of cases), clustered (14% of cases), and mixed (36% of cases)) and two nonamplified patterns (low number of signals (82% of cases) and polysomic (18% of cases)). Based on these data and published evidence in the literature, we propose a set of criteria to guide MDM2 amplification analysis in liposarcoma. Kindled by the compelling importance of MDM2 assessments to improve diagnostic and therapeutic liposarcoma management, these suggestions could represent the first step to develop a univocal interpretation model and consensus guidelines.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MDM2 amp well-differentiated liposarcoma not applicable N/A Clinical Study Diagnostic MDM2 amplification aids in the diagnosis of well-differentiated liposarcoma (PMID: 33799733, PMID: 34984861, PMID: 35074968, PMID: 36674856). 36674856 33799733 34984861 35074968
MDM2 amp dedifferentiated liposarcoma not applicable N/A Clinical Study Diagnostic MDM2 amplification aids in the diagnosis of dedifferentiated liposarcoma (PMID: 36674856, PMID: 35074968, PMID: 18500263, PMID: 33799733). 33799733 36674856 35074968 18500263