Rare MDM2 amplification in a fat-predominant angiomyolipoma
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ORIGINAL ARTICLE
Rare MDM2 amplification in a fat-predominant angiomyolipoma Maria Del Carmen Rodriguez Pena 1 & Jennifer Gordetsky 2,3 & Patricia T. Greipp 4 & Shi Wei 1 & Guido Martignoni 5,6 & George J. Netto 1 & Shuko Harada 1 & Carlos N. Prieto Granada 1 Received: 11 December 2019 / Revised: 23 March 2020 / Accepted: 5 April 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Angiomyolipomas (AMLs) are triphasic tumors (smooth muscle, vascular and adipocytic components) with myomelanocytic differentiation, arising most commonly in the kidneys, which can show predominant epithelioid morphology and fatpredominant or fat-poor variants. Fat-predominant AMLs can show areas of hypercellularity and lipoblast-like cells, and these features can mimic well-differentiated liposarcoma (WDLS). To date, only one documented metastatic epithelioid AML showed unequivocal MDM2 amplification by fluorescence in situ hybridization. We describe our findings in a series of 35 AMLs including epithelioid, fat-poor, and fat-predominant variants, following interrogation of the MDM2 locus by FISH and CISH assays. MDM2 amplification was detected in 1 fat-predominant AML. Our findings demonstrate that rare MDM2 amplifications can occur in AMLs. We favor that this finding likely represents a “molecular bystander” event since these tumors are mainly driven by aberrations in the TSC1/TSC2 genes. Nevertheless, the presence of MDM2 amplification in a fat-predominant AML could present a potential diagnostic pitfall, particularly when confronted with the differential diagnosis of fat-predominant AML and WDLS in limited material from the retroperitoneum. Keywords Renal angiomyolipoma . MDM2 amplification . Well-differentiated liposarcoma . Fluorescent in situ hybridization . Chromogenic in situ hybridization
Introduction Angiomyolipomas (AML) are triphasic mesenchymal tumors characterized by unique myomelanocytic differentiation, Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00428-020-02813-9) contains supplementary material, which is available to authorized users. * Maria Del Carmen Rodriguez Pena [email protected] 1
Pathology Department, University of Alabama at Birmingham, Birmingham, AL, USA
2
Pathology Department, Vanderbilt University Medical Center, Nashville, TN, USA
3
Urology Department, Vanderbilt University Medical Center, Nashville, TN, USA
4
Pathology Department, Mayo Clinic, Rochester, MN, USA
5
Department of Diagnostic and Public Health, University of Verona, Verona, Italy
6
Department of Pathology, Pederzoli Hospital, Peschiera Del Garda, Verona, Italy
belonging to the perivascular epithelioid cell (PEC) tumor family, also known as “PEComa” lesions [1, 2]. Although the most common organs giving rise to AMLs are the kidney and the liver [2–4], rare examples of AMLs involving other anatomical sites have been documented. AMLs are composed of 3 mesenchymal elements: mature adipose tissue, thick-walled vessels, and smooth muscle bundles with one of
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