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676 Arch Pathol Lab Med—Vol 129, May 2005 Atypical Angiomyolipoma of Kidney —Ma et al Case Reports Atypical Angiomyolipoma of Kidney in a Patient With Tuberous Sclerosis A Case Report With p53 Gene Mutation Analysis Linglei Ma, MD, PhD; Diane Kowalski, MD; Khurram Javed, BS; Pei Hui, MD, PhD Angiomyolipoma (AML) is the most common benign mesenchymal tumor of the kidney. It belongs to the family of perivascular epithelioid cell tumors and is typically com- posed of blood vessels, adipose tissue, and smooth muscle– like cells, which are characteristically positive for HMB- 45. Results of recent studies suggest that mutation may play an important role in AML progression. Here, we de- scribe a locally destructive renal AML in a patient with tuberous sclerosis. The tumor consisted of mostly epithe- lioid cells with marked nuclear pleomorphism and frequent mitoses and was positive for HMB-45. The diagnosis of atypical epithelioid AML was made. Codon alteration in the gene was not detected, despite focal p53 immu- noreactivity and single nucleotide polymorphism at exon 6. Our finding indicates no definite link between ab- normalities and the atypical appearance of AML. To the best of our knowledge, this is the second renal AML case investigated for mutations. ( Arch Pathol Lab Med. 2005;129:676–679) R enal angiomyolipoma (AML) is the most common mesenchymal tumor of the kidney. It is composed of variable proportions of thick-walled blood vessels, adi- pose tissue, and smooth muscle–like cells. More than 40% of renal AMLs are associated with tuberous sclerosis. 1 Bi- laterality and multicentricity are features closely tied to the tuberous sclerosis complex. AMLs frequently display a loss of heterozygosity at the region containing tuberous sclerosis complex genes in tuberous sclerosis–associated and sporadic tumors. 2 AMLs can also involve extrarenal organs, most commonly the liver. In typical AMLs, the smooth muscle–like cells form mainly fascicles of spindle cells. In 1991, the epithelioid variant of AMLs was described, following the discovery of HMB-45 (melanosome-associated protein) reactivity in AMLs. 3 The smooth muscle–like cells in this variant are characterized by a predominantly epithelioid morphology. A subgroup of epithelioid AMLs display marked pleo- Accepted for publication December 6, 2004. From the Department of Pathology, Yale University School of Medi- cine, New Haven, Conn. The authors have no relevant financial interest in the products or companies described in this article. Reprints: Pei Hui, MD, PhD, Department of Pathology, Yale Univer- sity School of Medicine, 310 Cedar St, New Haven, CT 06510 (e-mail: pei.hui@yale.edu). morphism and are called atypical AMLs.
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