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Saudi Journal of Kidney Diseases and Transplantation
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Table of Contents   
CASE REPORT  
Year : 2013  |  Volume : 24  |  Issue : 2  |  Page : 318-321
Renal transplant in a tuberous sclerosis patient with bilateral giant renal angiomyolipomas and concurrent renal carcinoma


1 Department of Urology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan
2 Department of Histopathology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan
3 Department of Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan
4 Department of Radiology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan
5 Department of Anesthesiology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan

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Date of Web Publication26-Mar-2013
 

   Abstract 

Co-existence of angiomyolipoma (AML) and renal cell carcinoma (RCC) in the same tumor mass is very rare and only eight cases have been reported. We present a case of a young female with tuberous sclerosis complex (TSC) with bilateral huge renal AMLs. Both tumors were removed, one of which revealed co-incidental RCC. She was subsequently successfully transplanted a kidney from her brother and is maintaining normal graft function eight months post-transplant. No recurrence or metastases of RCC has been detected till the last follow-up.

How to cite this article:
Hussain M, Mubarak M, Sultan G, Ahmed E, Yunus M, Salehi MA, Asif M, Anwer Naqvi SA, Rizvi SA. Renal transplant in a tuberous sclerosis patient with bilateral giant renal angiomyolipomas and concurrent renal carcinoma. Saudi J Kidney Dis Transpl 2013;24:318-21

How to cite this URL:
Hussain M, Mubarak M, Sultan G, Ahmed E, Yunus M, Salehi MA, Asif M, Anwer Naqvi SA, Rizvi SA. Renal transplant in a tuberous sclerosis patient with bilateral giant renal angiomyolipomas and concurrent renal carcinoma. Saudi J Kidney Dis Transpl [serial online] 2013 [cited 2014 Aug 27];24:318-21. Available from: http://www.sjkdt.org/text.asp?2013/24/2/318/109591

   Introduction Top


Renal manifestations of tuberous sclerosis complex (TSC) include cysts, angiomyolipomas (AML) and renal epithelial neoplasms, either alone or in any combination. [1],[2],[3],[4],[5] The concurrence of AML and renal cell carcinoma (RCC) in the general population and TSC patients is very rare. [6],[7] Co-existence of AML and RCC is further rare and only eight cases have been reported till date. [1],[5],[6],[7] We present a case of a young female with TSC with bilateral huge renal AMLs with co-incidental RCC in second AML tumor. She was subsequently successfully transplanted a kidney from her younger brother and is maintaining normal graft function. To the best of our knowledge, this unique mode of tumor coincidence has previously been reported in only one case. [1]


   Case Report Top


A 34 year old lady presented with abdominal distension, hematuria and right flank pain. Abdominal examination revealed large masses palpable in both flanks. The patient was afebrile, anemic and hypotensive on admission. On physical examination, small blister-like lesions (facial angiofibromas) were noted on the face. Hematological evaluation revealed microcytic hypochromic anemia. Renal functions were impaired, with serum urea of 88 mg/dL and creatinine 3.87 mg/dL. Computed tomographic (CT) scan showed a large homogenous, hypodense masses arising from both kidneys and displacing and compressing most of the abdominal viscera [Figure 1]. The masses showed large areas of fatty tissue with prominent vessels, and a radiological diagnosis of bilateral AML was made. The patient had past history of seizures, but family history was unremarkable for TSC. She was managed symptomatically and her renal functions improved. While the patient was being managed, she bled into and from the tumor and collapsed and became pulseless and blood pressure was unrecordable. After resuscitation, emergency right nephrectomy was performed in view of the large size of the tumor and potential for further complications. Peroperatively, both kidneys were greatly enlarged and distorted with solid, soft, yellow fatty masses with extensive areas of hemorrhage. Grossly, the right tumor was a huge lobulated fatty mass measuring 32 cm × 16 cm × 12 cm and weighing 7.7 kg. On slicing, the renal parenchyma was completely replaced by soft, yellow fat tissue with scattered foci of hemorrhage [Figure 2]. Microscopy revealed benign tumor composed of adipose tissue, smooth muscle and thick-walled blood vessels. Extensive sampling did not reveal any evidence of malignancy. The diagnosis of renal AML was confirmed. She made uneventful recovery and maintained normal renal function with good renal output. The patient was followed-up in our outpatient department. In the meantime, magnetic resonance imaging (MRI) of the brain showed subependymal nodules and clinical diagnosis of TSC was confirmed. Genetic mutation analysis was not available in the country and was not to be performed. After 15 months, she developed pain and heaviness in the left flank and hematuria persisted. She was prepared for left tumor nephrectomy and transplant work-up was started. Grossly, the left tumor was a huge lobulated fatty mass measuring 27 cm × 21 cm × 16 cm, which, on slicing, revealed a single gray brown apparently encapsulated mass measuring 7 cm × 5 cm × 4 cm [Figure 3]. The latter was embedded within the main fatty mass. The whole tumor weighed 6.5 kg. Microscopic examination from larger mass showed AML. Sections from smaller mass showed a malignant tumor composed of sheets and tubular structures lined by large neoplastic epithelial cells with abundant clear to granular cytoplasm and large vesicular nuclei and prominent nucleoli [Figure 4]. Immunohistochemistry revealed positivity of tumor for cytokeratin and vimentin and negativity for HMB-45. The diagnosis of renal AML with co-incidental conventional RCC was established. RCC was confined within the fibrous pseudocapsule within main AML tumor. Her metastatic work-up was negative. The RCC was classified as stage pT1b, cN0, cM0, Fuhrman nuclear grade II. Her transplant plan was deferred for two years. She was put on hemodialysis till her successful renal transplant 24 months later. She received a kidney from her younger brother with one haplotype match. Her convalescence was uneventful. She is maintaining normal graft function 8 months post-transplant with serum creatinine of 0.9 mg/dL on standard triple immunosuppressive regimen consisting of cyclosporine, azathioprine and steroids, and has resumed her job. There is no recurrence or metastases of tumor at her last follow-up.
Figure 1: Computerized tomograph of the abdomen showing bilateral huge kidney masses displacing and compressing other abdominal organs.

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Figure 2: Gross specimen of right kidney tumor showing large fatty mass with areas of hemorrhage. No native kidney parenchyma is identifiable.

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Figure 3: Gross specimen of left kidney showing replacement of entire kidney by fatty mass. A well-circumscribed gray brown solid mass is also seen embedded within the main fatty mass. The latter turned out to be renal cell carcinoma.

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Figure 4: Photomicrograph of renal cell carcinoma showing solid nests and tubular formations lined by large epithelial cells with abundant clear to granular cytoplasm and central round nuclei with prominent nucleoli (H&E stain, ×400).

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   Discussion Top


Renal lesions in TSC include renal cysts, AMLs and epithelial neoplasms, either alone or in any combination. [1],[2],[3] The concurrence of RCC and AML is very rare. [4],[5],[6],[7] The first reported case in the literature was in 1975 by Kavaney and Fielding. [5] So far, less than 60 cases of co-existing AML and RCC have been reported. [1],[4],[5],[6],[7] Of these cases, slightly more than half have been in TSC patients. [4] Concurrent AMLs and RCCs have been found to be entirely separate masses in the vast majority of reported cases, or may be mixed in the same tumor mass. [6] This later co-localization of these tumors is further rare and so far only eight cases have been reported in the literature to the best of our knowledge. [1],[8],[9] In our patient, RCC was found within the second AML tumor operated. Thus, it constitutes the ninth documented case of co-localization of AML and RCC in the same tumor mass.

The symptomatology and risk of spontaneous bleeding in AML varies with its size. [8],[9] In our patient, both AMLs were huge in size and symptomatic and right renal AML presented with life threatening abdominal bleeding and shock, and she had to undergo emergency right nephrectomy. To the best of our knowledge, this tumor appears to be the largest reported in the literature till date.

In most of the reported concurrences, AML was an incidental diagnosis in cases of symptomatic renal cell neoplasia, and, in a vast majority of the cases, the two tumors were in separate kidneys or separate tumors in the same kidney, which is in contrast to the findings in our case. [7] RCC in our patient was asymptomatic and an incidental finding, detected by pathologic evaluation of the resected left tumor specimen.

There are no guidelines for the management of this unique and rare combination of tumors in the kidney. In one case report, combined nephrectomy and pre-emptive renal transplantation was performed at the same time. [1] Most authorities recommend a 2 years' interval between tumor nephrectomy and transplantation. [10] We waited for 24 months before transplanting her with a kidney from her younger brother. She is maintaining normal graft function and there is as yet no recurrence or metastasis of the tumor eight months post-transplant and has been successfully rehabilitated. In view of the reported beneficial effects of Rapamycin in animal models and humans, [1] we contemplated to start this drug, but it is not easily and continuously available in Pakistan.

In conclusion, this case presented unique diagnostic and management problems that were tackled successfully according to published guidelines.

 
   References Top

1.Corsenca A, Aebersold F, Moch H, et al. Combined nephrectomy and pre-emptive renal transplantation in a tuberous sclerosis patient with Angiomyolipoma, renal carcinoma and life-threatening abdominal haemorrhages. Nephrol Dial Transplant 2007;22:3330-3.  Back to cited text no. 1
[PUBMED]    
2.Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int 2006;70:1777-82.  Back to cited text no. 2
[PUBMED]    
3.Eble JN. Angiomyolipoma of kidney. Semin Diagn Pathol 1998;15:21-40.  Back to cited text no. 3
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4.Jimenez RE, Eble JN, Reuter VE, et al. Concurrent angiomyolipoma and renal cell neoplasia: A study of 36 cases. Mod Pathol 2001;14:157-63.  Back to cited text no. 4
[PUBMED]    
5.Kavaney P, Fielding I. Angiomyolipoma and renal cell carcinoma in same kidney. Urology 1975;6:643-6.  Back to cited text no. 5
    
6.Inomoto C, Umemura S, Sasaki Y, Yasuda M, Terachi T, Osamura RY. Renal cell carcinoma arising in a long pre-existing angiomyolipoma. Pathology Int 2007;57:162-8.  Back to cited text no. 6
    
7.Gutierrez OH, Burgener FA, Schwartz S. Coincident renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis. AJR Am J Roentgenol 1979;132:848-50.  Back to cited text no. 7
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8.Mouded I, Tolia B, Bernie J, Newman H. Symptomatic renal angiomyolipoma: Report of 8 cases, 2 with spontaneous rupture. J Urol 1978;119:684-8.  Back to cited text no. 8
    
9.Oesterling J, Fishman E, Goldman S, Marshall F. The management of renal angiomyolipoma. J Urol 1986;135:1121-4.  Back to cited text no. 9
    
10.Kasiske BL, Ramos EL, Gaston RS, et al. The evaluation of renal transplant candidates: Clinical practice guidelines. Am J Transpl 2001;2(Suppl 1):5-95.  Back to cited text no. 10
    

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Correspondence Address:
Manzoor Hussain
Urology Department, Sindh Institute of Urology and Transplantation, Civil Hospital, Karachi-74200
Pakistan
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DOI: 10.4103/1319-2442.109591

PMID: 23538357

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