Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature

Winterkorn, Elisabeth B.; Daouk, Ghaleb H.; Anupindi, Sudha A.; Thiele, Elizabeth A.

doi:10.1007/s00467-006-0133-3

Cited by 18 publications

(18 citation statements)

References 28 publications

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“…Tuberous sclerosis complex (TSC) is an autosomal dominant disorder transmitted by two genes: TSC1 and TSC2, which are located on chromosomes 9q34 and 16p13.3, respectively (1). TSC is a rare genetic disease, which was first described in depth by Bourneville in 1880, with an incidence of 1 case per 6,000 individuals worldwide (2,3).…”

Section: Introductionmentioning

confidence: 99%

Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

et al. 2016

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Abstract. The aim of the present study was to investigate the treatment options for patients with tuberous sclerosis complex (TSC)-associated renal angiomyolipomas (AMLs). A total of 17 patients who were consecutively diagnosed with TSC-associated renal AMLs at the Department of Urology of Zhongshan Hospital between 1998 and 2012 were included in the study. The patient cohort included 7 males and 10 females with a mean age of 37.6 years (range, 18-62 years). A total of 12 patients were diagnosed with renal AML with TSC during physical examination (PE), while 5 patients were admitted to the Emergency Department of Zhongshan Hospital due to spontaneous rupture of renal AMLs. All renal lesions were examined by ultrasonography and abdominal computed tomography prior to treatment. The primary outcome measure was the kidney reservation rate (patients that had not received nephrectomies) in the rupture group and PE group. Both abdominal ultrasonography and CT revealed AMLs in all patients and the mean tumor size was 10.0±4.0 cm (range, 3.0-17.5 cm). Overall, 9 patients underwent surgery, which included unilateral nephrectomy in 4 patients and unilateral partial nephrectomy/tumor enucleation in 5 patients. The remaining 8 patients received medical treatment. All patients were followed-up for between 10 and 67 months. One patient succumbed as a result of multiple organ failure, which was caused by hypovolemic shock due to the spontaneous rupture of renal AML. The kidney reservation rate during surgery was 87.5% (7/8) in the PE group and 25% (1/4) in the spontaneous rupture group. The management of TSC-associated renal AMLs differs from that of solitary sporadic AMLs. Surgical therapy is recommended following careful risk-benefit analysis.

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Section: Introductionmentioning

confidence: 99%

Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

et al. 2016

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“…Renal manifestations include AML (50–75%), benign cyst (17–35%), and renal cell carcinoma (1–2%). [1] AMLs associated with TSC present at an earlier age than sporadic AMLs and tend to be larger, bilateral and do not have any predilection for sex. Classic AMLs are seen sporadically, most often in middle aged women and are usually unilateral.…”

Section: Discussionmentioning

confidence: 99%

“…The risks of hemorrhage, tumor growth, and malignant transformation increase with tumor size. [1] Asymptomatic AML of size less than <4 cm should be observed with ultrasonography every 1–3 years. Asymptomatic large (>4 cm) AMLs require sonographic evaluation every 6 monthly and increase in size will indicate need for intervention.…”

Section: Discussionmentioning

confidence: 99%

“…Though it constitutes a small number (1–2%) of renal tumors in general population, 50–75% patients of tuberous sclerosis complex (TSC) develop renal AML. [1] AML is classically diagnosed by identifying the intratumoral fat component as evident by negative attenuation on unenhanced Computed tomography (CT) scans. [2] However, fat-poor AMLs defy diagnosis and raise the suspicion of renal cell carcinoma.…”

Section: Introductionmentioning

confidence: 99%

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Fat poor angiomyolipoma with lymphadenopathy: Diagnostic dilemma

Garg¹,

Jain²,

Kumar³

et al. 2012

Urol Ann

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A 24-year-old lady presented with left flank pain of 3 months duration. She had stigmata of tuberous sclerosis complex in the form of angiofibromas on face, ash-leaf macules on back and right upper limb and shagreen patches over back. Computed tomography scan of the abdomen showed 6.5 cm × 5.0 cm × 4.4 cm lobulated intensely enhancing exophytic mass lesion in mid pole of left kidney with significant para-aortic lymphadenopathy with no evidence of fat in the mass. She underwent radical left nephrectomy with a provisional diagnosis of renal cell carcinoma. Histopathological examination showed multicenteric angiomyolipoma involving kidney and para-aortic lymph nodes. This case report underscores the need for further research to differentiate fat-poor angiomyolipoma and lymphadenopathy from renal cell carcinoma.

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“…The majority of published cases describe the coincidence of angiomyolipomas and renal cell carcinoma in otherwise healthy individuals as well as in tuberous sclerosis (TS) patients. The latter is an autosomal-dominant disorder characterized by mental retardation, epilepsy, and adenoma sebaceum, a distinctive skin lesion [1]–[5]. A few interesting reports describe the coincidence of RCCs and oncocytomas in patients with Birt-Hogg-Dube syndrome (BHDS), which is characterized by the development of fibrofolliculomas, renal tumors and spontaneous pneumothorax [6,7].…”

Section: Discussionmentioning

confidence: 99%

Bilateral synchronous occurrence of three different histological types of renal tumor: a case report

et al. 2009

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IntroductionRenal cell carcinomas account for 85% of all renal neoplasms. With the introduction of modern imaging modalities, there has been an increased diagnosis of renal tumors. Recent studies have shown that partial nephrectomy can be as safe as radical nephrectomy for smaller renal tumors. Renal cell carcinomas are usually unilateral, however, they can be bilateral in 2% to 4% of sporadic cases and considerably more common in familial cases.Case presentationIn this case report, we describe an unusual case of two bilateral synchronous chromophobe renal cell carcinomas accompanied by an oncocytoma and an angiomyolipoma, that were all treated by open partial nephrectomy.ConclusionsTo the best of our knowledge, this is the first case report on the synchronous occurrence of bilateral chromophobe renal cell carcinomas associated with an oncocytoma and an angiomyolipoma.

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Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature

Cited by 18 publications

References 28 publications

Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases

Fat poor angiomyolipoma with lymphadenopathy: Diagnostic dilemma

Bilateral synchronous occurrence of three different histological types of renal tumor: a case report

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