Abstract
Angiomyolipoma (AML) is a rare tumor mainly arising in the kidney. Here we report the case of a 55-year-old woman with malignant epithelioid angiomyolipoma with p53 gene mutation. After 7 years from radical nephrectomy of the left kidney, the patient developed multiple lung metastases that showed morphologic features overlapping those of the previously lesion, which was misdiagnosed as renal cell carcinoma. Both renal and pulmonary tumors were reevaluated by immunohistochemical assay, which were showed positive for HMB-45 and p53 protein (95%), but negative for epithelial markers and S-100 protein. A correct diagnosis of malignant epithelioid angiomyolipoma was made on the basis of those results. Meanwhile exon 8 mutation of p53 gene was detected in the renal tumor by microdissection-PCR-SSCP and sequencing technique indicating that p53 gene mutation may play an important role in malignant transformation. The patient was died of respiratory failure after 15 years’ follow-up. This is the second report of renal malignant angiomyolipoma with p53 gene mutation.
Highlights
Angiomyolipoma (AML) is recognized as a clonal mesenchymal neoplasm which stains strongly for melanoma-associated markers (HMB-45)
The p53 gene is a tumor suppressor gene that plays an important role in the regulation of cell growth, and the expression of p53 protein has been closely correlated with the presence of p53 gene mutation
The results showed that the tumor cells of both specimens were positive for vimentin, HMB-45 (Figures 1C and 1D) and p53 protein (Figure 3), but they were negative for cytokeratin and S-100 protein
Summary
Angiomyolipoma (AML) is recognized as a clonal mesenchymal neoplasm which stains strongly for melanoma-associated markers (HMB-45) This tumor most commonly arises in the kidney. A case of renal EAML with a p53 missense mutation has been reported [2], the pathogenesis and mechanisms of the malignant transformation of AML remain unclear. Features of lung relapsed and overlapped those of the renal lesion (Figure 1B). Both renal and pulmonary tumors were reevaluated by immunohistochemical assays. The electrophoretic backwardshifted bands were detected in exon 8 (Figure 4) of the p53 gene in both renal and pulmonary epithelioid cells, but no shift of electrophoretic mobility was found in exons 5, 6 and 7 by PCR-SSCP analysis. Later, sequencing confirmed exon 8 mutation of the p53 gene, which was a missense mutation of T ! G transversion at codon 281 (Figure 5) substituting serine for alanine
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
