Detection of MDM2 gene amplification on tissue microarray-based Fluorescence In-Situ Hybridization (FISH) in well-differentiated and dedifferentiated liposarcomas, displaying a wide morphological spectrum: A validation study at a tertiary cancer referral centre

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dc.contributor.authorRekhi, Ben_US
dc.contributor.authorKarnik, Nen_US
dc.contributor.authorAgrawal, Ren_US
dc.contributor.authorShetty, Oen_US
dc.contributor.authorPatkar, S.en_US
dc.date.accessioned2023-08-10T07:32:12Z
dc.date.available2023-08-10T07:32:12Z
dc.date.issued2022-03
dc.description.abstractBackground: Liposarcomas including atypical lipomatous tumors (ALT)/well-differentiated liposarcomas (WDLPS) and dedifferentiated liposarcomas (DDLPSs) display a histomorphological spectrum with their several diagnostic mimics. Murine double minute 2(MDM2) gene amplification characterizes ALT/WDLPS and DDLPS. Presently, there is no documented study from our subcontinent on the validation of MDM2 gene testing in these tumors. Material and Methods: Twenty-eight cases, diagnosed as ALT/WDLPS (n = 5) and DDLPSs (n = 23), along with 10 other tumors were tested for MDM2 gene amplification, using fluorescence in situ hybridization (FISH) on tissue microarrays (TMAs). Fourteen cases, diagnosed as ALT/WDLPS and DDLPS, along with 49 other tumors were tested for MDM2 immunostaining. Twenty tumors were tested for p16INK4a immunostaining. Results: FISH was interpretable in 25 (89.2%) cases. Among the 20 cases diagnosed as DDLPSs, 19 displayed MDM2 gene amplification. Among the 5 cases diagnosed as ALT/WDLPS, four showed MDM2 gene amplification. Finally, 19 cases were confirmed as DDLPS and 4 as ALT/WDLPS. Furthermore, 7/19 cases confirmed as DDLPS and all 4 cases as ALT/WDLPS tested for MDM2 immunostaining, displayed its diffuse immunoexpression, while a single case of DDLPS showed its focal immunostaining. None of the 49 control cases displayed diffuse MDM2 immunoexpression. ALL 16 DDLPSs and 4 cases of ALT/WDLPS displayed p16INK4a immunostaining. The sensitivity for diffuse MDM2 immunostaining was 87.5% in cases of DDLPS, 100% in ALT/WDLPS, and specificity was 100%. The sensitivity for MDM2 gene amplification was 94.7% in cases of DDLPS and 100% in cases of ALT/WDLPS. The sensitivity for p16INK4a was 100%. Conclusion: This constitutes the first sizable study on MDM2 testing in ALT/WDLPS and DDLPS from our subcontinent using TMAs. MDM2 gene amplification testing continues as the diagnostic gold standard for ALTs/WDLPSs and DDLPSs and is useful in cases of diagnostic dilemmas. Diffuse MDM2 (IF2 clone) and p16INK4a immunostaining, together seem useful for triaging cases for FISH.en_US
dc.identifier.affiliationsDepartment of Surgical Pathology; Division of Molecular Pathology and Translational Medicine, Homi Bhabha National Institute (HBNI) University, Mumbai, Maharashtra, Indiaen_US
dc.identifier.affiliationsDepartment of Surgical Pathology, Homi Bhabha National Institute (HBNI) University, Mumbai, Maharashtra, Indiaen_US
dc.identifier.affiliationsDepartment of Division of Molecular Pathology and Translational Medicine, Homi Bhabha National Institute (HBNI) University, Mumbai, Maharashtra, Indiaen_US
dc.identifier.affiliationsDepartment of Surgical Oncology, Gastrointestinal, Retroperitoneum, Tata Memorial Hospital, Homi Bhabha National Institute (HBNI) University, Mumbai, Maharashtra, Indiaen_US
dc.identifier.citationRekhi B, Karnik N, Agrawal R, Shetty O, Patkar S.. Detection of MDM2 gene amplification on tissue microarray-based Fluorescence In-Situ Hybridization (FISH) in well-differentiated and dedifferentiated liposarcomas, displaying a wide morphological spectrum: A validation study at a tertiary cancer referral centre. Indian Journal of Pathology & Microbiology. 2022 Mar; 65(1): 65-75en_US
dc.identifier.issn0377-4929
dc.identifier.issn0974-5130
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223173
dc.languageenen_US
dc.publisherWolters Kluwer - Medknowen_US
dc.relation.issuenumber1en_US
dc.relation.volume65en_US
dc.source.urihttps://doi.org/10.4103/IJPM.IJPM_1238_20en_US
dc.subjectDedifferentiated liposarcomaen_US
dc.subjectFISHen_US
dc.subjectliposarcomaen_US
dc.subjectMDM2en_US
dc.subjecttissue microarrayen_US
dc.titleDetection of MDM2 gene amplification on tissue microarray-based Fluorescence In-Situ Hybridization (FISH) in well-differentiated and dedifferentiated liposarcomas, displaying a wide morphological spectrum: A validation study at a tertiary cancer referral centreen_US
dc.typeJournal Articleen_US
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