|LETTER TO THE EDITOR
|Year : 2015 | Volume
| Issue : 1 | Page : 155-156
A case of tuberous sclerosis complex with bilateral advanced renal cell carcinoma
CR Choudhury, S Biswas
Department of General Surgery, Medical College Hospital, College Street, Kolkata, India
|Date of Web Publication||3-Feb-2016|
C R Choudhury
Department of General Surgery, Medical College Hospital, College Street, Kolkata
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Choudhury C R, Biswas S. A case of tuberous sclerosis complex with bilateral advanced renal cell carcinoma. Indian J Cancer 2015;52:155-6
The tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disorder characterized by seizures, mental retardation, hamartomas and neoplastic lesions including angiomyolipomas of the kidney and other organs. Patients with TSC have been reported to develop renal cell carcinomas (RCC) with increased frequency. There are numerous reports of renal cell carcinoma in patients with tuberous sclerosis; the incidence may be as high as 2%. The incidence of bilateral renal cell carcinoma has been reported to be around 3% of all cases. We hereby present a case of TSC with bilateral renal cell carcinoma.
A 48 years female patient was admitted in the department of Surgery in our institute with convulsion followed by head injury, had GCS of 10/15, bilateral renal lumps, hepatomegaly with multiple spots in face simulating adenoma sebaceum [Figure 1]. Further investigation revealed an underlying tuberous sclerosis that had escaped previous clinical detection.
The daughter of the patient also had similar spots in the face. CT scan brain revealed that tiny calcified and non - calcified lesions near caudate nucleus bilaterally, cerebellum, lateral ventricle and also in bilateral subependymal region of lateral ventricle [Figure 2]. CT scan abdomen revealed bilateral renal cell carcinoma with right adrenal invasion, invasion of hepatic parenchyma, extrinsic compression of portal vein, IVC, head of pancreas, second part of duodenum and bilateral pericolic fat planes, multiple secondaries in liver and spine with moderate ascitis, right sided pleural effusion, suggestive of STAGE IVB RCC [Figure 3]. A diagnosis of tuberous sclerosis complex with advance bilateral renal cell carcinoma was made. As the patient had advanced disease on presentation she was subjected to palliative chemoradiotherapy only. But unfortunately, the poor patient could not afford the cost of treatment and we lost the patient in follow-up.
|Figure 2: CT scan brain revealed that tiny calcified and non-calcified lesions near caudate nucleus bilaterally, cerebellum, lateral ventricle and also inbilateralsubependymalregionof lateral ventricle|
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|Figure 3: CT scan abdomen revealed bilateral renal masses with right adrenal invasion, invasion ofhepatic parenchyma, extrinsic compression of portal vein, IVC, head of pancreas, second part of duodenum andbilateral pericolic fat planes, multiple secondaries in liver and spine with moderate ascitis, suggestive of STAGE IVB Renal Cell Carcinoma|
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The syndrome is characterized by hamartomas and neoplastic lesions, including angiomyolipomas of the kidney and other organs. TSC in the kidney is expressed principally as renal cysts and angiomyolipomas. RCC in tuberous sclerosis remains relatively poorly characterized. It has an earlier age of presentation than sporadic RCCs, and that the TSC tumor suppressor genes may play a specific pathogenic role in these tumors.
TSC-associated RCCs results from mutations in oneof twointeracting gene products, hamartin or tuberin. Dysregulation and hyperactivation of the mammalian target of rapamycin (mTOR) pathway define the molecular basis of the hamartoma syndromes including tuberous sclerosis complex. Rapamycin is a macrolide isolated from Streptomyces hygroscopius. Rapamycin (sirolimus) may be useful in tuberous sclerosis associated RCC treatment.
It binds to its intracellular receptor, FK506-binding protein 12 (FKBP12), and inhibits the activity of the mammalian target of rapamycin (mTOR), a serine/threonine kinase involved in numerous cellprocesses linked to cell growth control. Suppression of mTOR signalling might constitute an ameliorative treatment in patients with the tuberous sclerosis complex. Adverse effects of Rapamycin includes lung toxicity like interstitial pneumonitis. Temsirolimus and everolimus, have been approved for use in metastatic RCC. Although relatively safe, these drugs are associated with some unique adverse effects, such as hyperlipidemia, hyperglycemia, and pneumonitis, that require monitoring and may require clinical intervention. The carcinomas shared distinctive morphological features, including sheet-like, glandular, trabecular, or cystic architecture and abundant granular eosinophilic cytoplasm. Many renal masses associated with TSC are radiologically indeterminate. Yearly radiological follow-up of indeterminate renal masses is recommended for individual with TSC. It is hypothesized that while cell hyperplasia or hypertrophymay explain some of the TSC associated lesions, including renal cysts, cerebral tubers, cardiac rhabdomyomas and soon, th e tumors presented herein have certainly undergone malignant transformation. The renal abnormalities can therefore be regarded as an expression of the TSC gene, and their recognition as such carries importance for treatment and counselling.
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[Figure 1], [Figure 2], [Figure 3]
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