title: Atypical angiomyolipoma of kidney in a patient with tuberous sclerosis: a case report with p53 gene mutation analysis.
abstract: 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 composed of blood vessels, adipose tissue, and smooth muscle- like cells, which are characteristically positive for HMB-45. Results of recent studies suggest that p53 mutation may play an important role in AML progression. Here, we describe a locally destructive renal AML in a patient with tuberous sclerosis. The tumor consisted of mostly epithelioid 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 p53 gene was not detected, despite focal p53 immunoreactivity and single nucleotide polymorphism at exon 6. Our finding indicates no definite link between p53 abnormalities and the atypical appearance of AML. To the best of our knowledge, this is the second renal AML case investigated for p53 mutations.
authors.affiliation: Department of Pathology, Yale University School of Medicine, New Haven, Conn 06510, USA.
authors.forename: Linglei
authors.initials: L
authors.lastname: Ma
authors.forename: Diane
authors.initials: D
authors.lastname: Kowalski
authors.forename: Khurram
authors.initials: K
authors.lastname: Javed
authors.forename: Pei
authors.initials: P
authors.lastname: Hui
mesh_terms: D000328:Adult; D018207:Angiomyolipoma / Q000737:chemistry / Q000150:complications / Q000235:genetics / Q000473:pathology*; D014408:Biomarkers, Tumor / Q000032:analysis; D003593:Cytoplasm / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D016158:Genes, p53; D006801:Humans; D007150:Immunohistochemistry; D007365:Intercellular Junctions / Q000648:ultrastructure; D007680:Kidney Neoplasms / Q000737:chemistry / Q000150:complications / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D009392:Nephrectomy; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm