Malignant epithelioid angiomyolipoma of the kidney with pulmonary metastases and p53 gene mutation

World Journal of Surgical Oncology

Yan-Li Wang²  Ming Zhu¹  Jun Li² 

[1]Department of Head and Neck, Zhengjiang Tumor Hospital, Hangzhou, Zhejiang, 310021, China

[2]Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, 79 Qingchun Road, Hangzhou, Zhejiang, 310003, China

关键词: p53 gene mutation;    Metastases;    Malignant;    Epithelioid;    Angiomyolipoma;    Kidney;   

Others  :  827144
DOI  :  10.1186/1477-7819-10-213

 received in 2012-03-27, accepted in 2012-09-22,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Jun et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Nese N, Martignoni G, Fletcher CD, Gupta R, Pan CC, Kim H, Ro JY, Hwang IS, Sato K, Bonetti F, Pea M, Amin MB, Hes O, Svec A, Kida M, Vankalakunti M, Berel D, Rogatko A, Gown AM, Amin MB: Pure epithelioid PEComas (so-called epithelioid angiomyolipoma) of the kidney: a clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification. Am J Surg Pathol 2011, 35:161-176.
• [2]Kawaguchi K, Oda Y, Nakanishi K, Saito T, Tamiya S, Nakahara K, Matsuoka H, Tsuneyoshi M: Malignant transformation of renal angiomyolipoma: a case report. Am J Surg Pathol 2002, 26:523-529.
• [3]Hornick JL, Fletcher CD: PEComa: What do we know so far? Histopathology 2006, 48:75-82.
• [4]Waters PS, Mitchell DP, Murphy R, McKenna M, Waldron RP: Primary malignant gastric PEComa: diagnostic and technical dilemmas. Int J Surg Case Rep 2012, 3:89-91.
• [5]Chandrasoma S, Moatamed N, Chang A, Daneshmand S, Ma Y: Angiomyolipoma of the kidney: expanding disease spectrum demonstrated by 3 cases. Appl Immunohistochem Mol Morphol 2004, 12:277-283.
• [6]Acikalin MF, Tel N, Oner U, Pasaoglu O, Dönmez T: Epithelioid angiomyolipoma of the kidney. Int J Urol 2005, 12:204-207.
• [7]Martignoni G, Pea M, Rigaud G, Manfrin E, Colato C, Zamboni G, Scarpa A, Tardanico R, Roncalli M, Bonetti F: Renal angiomyolipoma with epithelioid sarcomatous transformation and metastases. Am J Surg Pathol 2000, 24:889-894.
• [8]Yamamoto T, Ito K, Suzuki K, Yamanaka H, Ebihara K, Sasaki A: Rapidly progressive malignant epithelioid angiomyolipoma of the kidney. J Urol 2002, 168:190-191.
• [9]Svec A, Velenska Z: Renal epithelioid angiomyolipoma: a close mimic of renal cell carcinoma: report of a case and review of the literature. Pathol Res Pract 2005, 200:851-856.
• [10]Warakaulle DR, Phillips RR, Turner GD, Davies D, Protheroe AS: Malignant monotypic epithelioid angiomyolipoma of the kidney. Clin Radiol 2004, 59:849-852.
• [11]Belanger EC, Dhamanaskar PK, Mai KT: Epithelioid angiomyolipoma of the kidney mimicking renal sarcoma. Histopathology 2005, 47:433-435.
• [12]Ma L, Kowalski D, Javed K, Hui P: A typical angiomyolipoma of kidney in a patient with tuberous sclerosis: a case report with p53 gene mutation analysis. Arch Pathol Lab Med 2005, 129:676-679.
• [13]Sato K, Ueda Y, Tachibana H, Miyazawa K, Chikazawa I, Kaji S, Nojima T, Katsuda S: Malignant epithelioid angiomyolipoma of the kidney in a patient with tuberous sclerosis: an autopsy case report with p53 gene mutation analysis. Pathol Res Pract 2008, 204:771-777.