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 fat-predominant 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.
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Jennifer Gooding, CG (ASCP) CM Technical Specialist II-Cytogenetics Laboratory, Division of Laboratory Genetics Mayo Clinic, Rochester MN.
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Rodriguez Pena, M.D.C., Gordetsky, J., Greipp, P.T. et al. Rare MDM2 amplification in a fat-predominant angiomyolipoma. Virchows Arch 477, 661–666 (2020). https://doi.org/10.1007/s00428-020-02813-9
- Renal angiomyolipoma
- MDM2 amplification
- Well-differentiated liposarcoma
- Fluorescent in situ hybridization
- Chromogenic in situ hybridization