Abstract：Objective:To investigate the clinical characteristics of renal epithelioid angiomyolipomas (REAML) and evaluate the clinical outcomes. Methods:The clinical data of 12 patients with pathologically confirmed REAML from March 2012 to October 2017 were collected, and clinical features, pathological characteristics, image findings and treatment effect were retrospectively analyzed. Results:In the 12 cases, there were 5 males and 7 of females. The median age was 39.5 years (range from 26-61 years). All cases were examined by ultrasound, CT or MRI. There were 4 cases of renal tumors, 1 case of adrenal tumor, 2 cases of renal cell carcinoma with thrombus and 5 cases of renal angiomyolipoma, which were preoperatively diagnosed. Four cases were subjected to TSC gene detection in this group: 1 was negative, and the rest 3 were positive. The one case positive for TSC gene detection was diagnosed as having nodular sclerosis before surgery, and the tumor was significantly reduced and operated successfully after 3 months of treatment with ivermox. All the 12 patients underwent operation, including 3 cases given radical nephrectomy, 2 cases given radical nephrectomy and vena venous carcinoma, and 7 cases given partial nephrectomy. The median follow-up period was 20 months (range one month to 70 months). Eight cases obtained disease-free survival, and one case developed contralateral tumor after radical operation. The two cases of tumor with IVC thrombus have not yet reviewed images in the short term follow-up. One case had recurrence and multiple metastases in five years after surgery, and died one year later after the second operation. Conclusions:The clinical symptoms of REAML have no specificity. It is easily confused with renal carcinoma or classic renal angiomyoma in preoperative image, and is confirmed pathologically. Surgical resection is primary treatment, and complete resection may improve the survival. For the patients with un-complete resection, un-operation or merge distant metastases, adjuvant chemotherapy and molecular targeted therapy may have certain curative effect.
[1] Aydin H, Magi-Galluzzi C, Lane BR, et al.Renal angiomyolipoma:clinicopathologic study of l94 cases with emphasis on the epithelioid histology and tuberous sclerosis association. Am J Surg Pathol, 2009,33(2):289-297.
[2] He WL, Cheville JC, Sadow PM, et al.Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors. Mod Pathol, 2013,26(10):1355-1364.
[3] Delgado R, De Leon Bojorge B, Albores-Saavedra J. Atypical angiomyolipoma of the kidney: a distinct morphologic variant that is easily confused with a variety of malignant neoplasms. Cancer, 1998,83(8):1581-1592.
[4] Raman SP, Hruban RH, Fishman EK.Beyond renal cell carcinoma: rare and unusual renal masses. Abdom Imaging, 2012,37(5):873-884.
[5] Faraji H, Nguyen BN, Mai KT.Renal epithelioid angiomyolipoma: a study of six cases and a meta-analytic study. Development of criteria for screening the entity with prognostic significance. Histopathology, 2009,55(5):525-534.
[6] Gupta C, Malani AK, Gupta V, et al.Metastatic retroperitoneal epithelioid angiomyolipoma. J Clin Pathol, 2007,60(4):428-431.
[7] Nese N, Martignoni G, Fletcher CD, et al.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(2):161-176.
[8] Lei JH, Liu LR, Wei Q, et al.A Four-Year follow-up study of renal epithelioid angiomyolipoma: a Multi-Center experience and literature review. Sci Rep, 2015,5:10030.
[9] Varma S, Gupta S, Talwar J, et al.Renal epithelioid angiomyolipoma: a malignant disease. J Nephrol, 2011,24(1):18-22.
[10] 沈勤,饶秋,余波,等.伴有TFE3扩增的肾脏上皮样血管平滑肌脂肪瘤.临床与实验病理学杂志,2012,28(6):639-642.
[11] Tsai CC, Wu WJ, Li CC, et al.Epithelioid angiomyolipoma of the kidney mimicking renal cell carcinoma: a clinicopathologic analysis of cases and literature review. Kaohsiung J Med Sci, 2009,25(3):133-140.
[12] Froemming AT, Boland J, Cheville JA, et al.Renal epithelioid angiomyolipoma: imaging characteristics in nine cases with Radiologic-Pathologic correlation and review of the literature. AJR Am J Roentgenol, 2013,200(2):W178-W186.
[13] Gupta RK, Sharma MC, Chitragar S, et al.Epithelioid angiomyolipoma in a child--a diagnostic dilemma. Urology, 2014,83(6):1394-1397.
[14] Kenerson H, Fope AL, Takayama TK, et al.Activation of the mTOR pathway in sporadic angiomyolipomas and other perivascular epithelioid cell neoplasms. Hum Pathol, 2007,38(9):1361-1371.
[15] Luo J, Liu B, Wang Y, et al.Comprehensive clinical and pathological analysis of aggressive renal epithelioid angiomyolipoma: report of three cases. Onco Targets Ther, 2014,7:823-827.
[16] Cibas ES, Goss GA, Kulke MH, et al.Malignant epithelioid angiomyolipoma ('Sarcoma ex angiomyolipoma') of the kidney - A case report and review of the literature. AJR Am J Roentgenol, 2001,25(1):121-126.
[17] 王安群,季语祝,杨永红.肾血管平滑肌脂肪瘤临床病理分析.现代肿瘤医学,2015,23(16):2359-2361.
[18] Park HK, Zhang SZ, Wong MK, et al.Clinical presentation of epithelioid angiomyolipoma. Int J Urol, 2007,14(1):21-25.
[19] Shitara K, Yatabe Y, Mizota A, et al.Dramatic tumor response to everolimus for malignant epithelioid angiomyolipoma. Jpn J Clin Oncol, 2011,41(6):814-816.
[20] Hu-Lowe DD, Zou HY, Grazzini ML, et al.Nonclinical antiangiogenesis and antitumor activities of axitinib (AG-013736), an oral, potent, and selective inhibitor of vascular endothelial growth factor receptor tyrosine kinases 1, 2, 3. Clin Cancer Res, 2008,14(22):7272-7283.
[21] Citak EC, Yilmaz EB, Yaman E, et al.Malignant epitheloid angiomyolipoma of the kidney in a child treated with sunitinib, everolimus and axitinib. Can Urol Assoc J, 2015,9(7/8):E542-E545.
