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- Title
Rare MDM2 amplification in a fat-predominant angiomyolipoma.
- Authors
Rodriguez Pena, Maria Del Carmen; Gordetsky, Jennifer; Greipp, Patricia T.; Wei, Shi; Martignoni, Guido; Netto, George J.; Harada, Shuko; Prieto Granada, Carlos N.
- 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 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.
- Subjects
FLUORESCENCE in situ hybridization; ACUTE myeloid leukemia; SMOOTH muscle; LIPOSARCOMA
- Publication
Virchows Archiv: European Journal of Pathology, 2020, Vol 477, Issue 5, p661
- ISSN
0945-6317
- Publication type
Article
- DOI
10.1007/s00428-020-02813-9