Rare MDM2 amplification in a fat-predominant angiomyolipoma

Maria Del Carmen Rodriguez Pena, Jennifer Gordetsky, Patricia T. Greipp, Shi Wei, Guido Martignoni, George J. Netto, Shuko Harada, Carlos N. Prieto Granada

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)661-666
Number of pages6
JournalVirchows Archiv
Issue number5
StatePublished - Nov 1 2020


  • Chromogenic in situ hybridization
  • Fluorescent in situ hybridization
  • MDM2 amplification
  • Renal angiomyolipoma
  • Well-differentiated liposarcoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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