Renal cell carcinoma and angiomyolipoma in tuberous sclerosis. Case report

The association of angiomyolipoma with renal cell carcinoma in tuberous sclerosis is extremely rare, although the relation between tuberous sclerosis and angiomyolipoma of the kidney is widely recognized. We report here a case of bilateral angiomyolipoma and renal cell carcinoma of the right kidney with tuberous sclerosis and demonstrate the diagnostic difficulties in distinguishing between these tumors.     

Renal angiomyolipoma in Japanese tuberous sclerosis patients

Purpose

Renal angiomyolipoma (AML) is a benign neoplasm that may grow massive in tuberous sclerosis (TS) patients. The aim of this study was to document the characteristics of renal AML in Japanese TS patients.

Methods

Medical records of 29 TS patients followed up at the authors’ center were reviewed for the presence, size, symptom, and treatment of renal AML.

Results

Twenty-four patients screened for renal AML were subdivided into 4 groups: group 0 (n = 8), no mass; group 1 (n = 5), AML less than 1 cm in diameter; group 2 (n = 4), AML 1 to 4 cm in diameter; group 3 (n = 7), AML greater than 4 cm in diameter. When present, AML always affected both kidneys and were multiple. All patients in groups 1 and 2 were symptom free, and the tumors seemed stable in size. All tumors in group 3 grew progressively causing various symptoms. Total or partial nephrectomy or transarterial embolization was performed in 5 patients with limited success.

Conclusions

AML in TS patients can be stable or aggressive. Pediatric surgeons aware of this problem should be involved in a follow-up program.     

Renal angiomyolipoma associated with tuberous sclerosis. Review of the literature

A case of bilateral renal angiomyolipoma associated with tuberous sclerosis is presented. Although in our patient right renal biopsy specimen demonstrated angiomyoma, we believe that the lipomatous element could be found in a larger specimen. Roentgenographic and therapeutic considerations are presented and the different lesions of tuberous sclerosis reviewed. Unlike most patients exhibiting stigmata of tuberous sclerosis, our patient had normal mentality and seizures preceded skin lesions. Fundoscopic examination revealed retinal arteriolitis with an occlusive phenomenon which, to our knowledge, has not been reported previously.     

Renal cell carcinoma and angiomyolipoma in tuberous sclerosis: case report

We report a case of renal failure in a solitary kidney with manifestation of tuberous sclerosis, synchronous renal cell carcinoma and angiolipomatosis. A review of the literature disclosed the rare coexistence of these 2 tumors in tuberous sclerosis and the diagnostic difficulties in distinguishing these neoplasms.     

Renal angiomyolipoma: report of 2 cases of tuberous sclerosis in female siblings

Two cases of renal angiomyolipomas in female siblings associated with tuberous sclerosis were reported. The first case was a 47-year-old housewife who visited the hospital because of severe right flank pain. Bilateral renal angiomyolipomas and hemorrhage in the right angiomyolipoma were recognized by computerized tomography, ultrasonography and renal angiography. After 2 months she had another episode of left flank pain and was diagnosed to have hemorrhage in the left renal tumor. The pain remissed by conservative treatment. Bilateral nephrectomy and hemodialysis would be necessary if she were to have a third attack. The second case was her 36-year-old sister with the chief complaint of left flank pain and genital bleeding. CT and renal angiography suggested a large angiomyolipoma in her left kidney and a small one in her right kidney. Left nephrectomy, right partial nephrectomy and hysterectomy were performed to prevent intratumoral hemorrhage. The histopathological diagnosis was angiomyolipoma of kidneys, uterus and lymphnodes of right renal hilus. Although pre-operative differentiation of angiomyolipoma from renal cell carcinoma has been difficult, recently diagnosis has become possible by CT, ultra-sonography and angiography.     

Renal angiomyolipoma associated with micronodular pneumocyte hyperplasia of the lung with tuberous sclerosis

Tuberous sclerosis complex is an autosomal-dominant disorder characterized by the triad of mental retardation, epilepsy and adenoma sebaceum. Micronodular pneumocyte hyperplasia is a rare but distinctive pulmonary epithelial lesion, usually associated with tuberous sclerosis. To the authors' knowledge, the relationship between renal angiomyolipoma and micronodular pneumocyte hyperplasia in cases of tuberous sclerosis has not received attention in the urological literature. The case of a woman with renal angiomyolipomas associated with micronodular pneumocyte hyperplasia of the lung with tuberous sclerosis is reported here.     

Renal giant angiomyolipoma in tuberous sclerosis complex: case report and literature review

The aim of this paper is to describe a typical clinical case of tuberous sclerosis complex (Bourneville disease) and discuss controversial issues about the management of this rare condition, with a short revision of the literature. Particularly, we define which is the role of the surgeon in the treatment of this very rare condition, that should be primary approached conservatively.     

Renal angiomyolipoma; polycystic kidney, and renal cell carcinoma in patient with tuberous sclerosis.

A patient with tuberous sclerosis presented with renal failure secondary to bilateral angiomyolipoma. The angiomyolipoma was associated with polycystic disease and a foci of renal cell carcinoma. This unusual combination has not been reported previously, although each entity has been described separately in tuberous sclerosis.     

Transarterial embolization of ruptured angiomyolipoma associated with tuberous sclerosis.

Case A 29-year-old woman, with a past history of tuberous sclerosisdiagnosed in her childhood, presented to our emergency departmentwith the acute symptoms of left flank pain. She had no feverand she was fully     

Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care

Renal angiomyolipoma (AML) is the most common benign tumor of the kidney. It consists of blood vessels, smooth muscle and fat components in varying proportions. AML is divided into the sporadic type and tuberous sclerosis complex (TSC)-associated type. TSC-associated AML develops at a younger age and tends to exhibit a much faster growth rate over time than sporadic AML. AMLs are classified as classic AML, fat-poor AML and epithelioid AML. Epithelioid AML, though rare, shows aggressive behavior leading to distant metastasis and mortality. TSC-associated AML is more likely to have an epithelioid component than sporadic AML. Active surveillance is the suggested management for small AML. Clinical intervention is mainly indicated when there is a substantial risk of rupture. Minimally invasive therapies, including partial nephrectomy, transcatheter arterial embolization, and mammalian target of rapamycin (mTOR) inhibitor treatment are employed for patients who require treatment. An updated algorithm for the management of AML is herein described. According to this algorithm, treatment intervention is recommended for TSC-associated AML >3 cm, even in asymptomatic cases. In cases with asymptomatic sporadic AML >4 cm in size or with an intra-tumoral aneurysm of >5 mm, treatment, including transcatheter arterial embolization or partial nephrectomy, is advised. The major complication of AML is intra-tumoral or retroperitoneal hemorrhage due to rupture that may be serious and life threatening. Thus, correct diagnosis, proper observation, and appropriate treatment are very important in the management of renal AML.     

Renal lesions in tuberous sclerosis

Renal tumours, in tuberous sclerosis, are mainly benign and correspond to angiomyolipomas, multiple and bilateral, sometimes enormous with an hemorrhagic risk, frequently associated with cysts of variable size and number and seldom with high metastatic carcinomas. Chronic renal failure is rare and related to focal glomerulosclerosis secondary to hyperfiltration due to nephronic reduction owing to surgery or to tumour invasion, in particular cysts. Data about 65 patients with tuberous sclerosis and chronic renal failure were collected thanks to a national survey. They were females in 63.1% of cases, with a mean age of 29, 2 years at the time of the diagnosis of tuberous sclerosis, revealed in near half of cases by renal involvement. There were angiomyolipomas in 23.1% of cases, cysts in 18.5%, both in 53.8% and malignancies in 12.3%. All but one of the 48 patients with end stage renal failure were treated by dialysis; 20 were transplanted, with good results.     

Renal lesions in tuberous sclerosis

The renal lesion classically associated with tuberous sclerosis is angiomyolipoma. Renal cysts are less frequent, occurring alone or in conjunction with angiomyolipomas. We reviewed the records of 274 patients with tuberous sclerosis registered at our clinic. Of 95 patients evaluated for renal lesions 51 (54 per cent) had positive findings: 45 had angiomyolipomas, 17 had renal cysts and 11 had both lesions. These lesions usually are multiple and bilateral, and are diagnosed most effectively with computerized tomography or ultrasound. Surgery (10 kidneys) was done for life-threatening hemorrhage or suspected malignant lesions.     

Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis

Renal angiomyolipomas are found in more than half of the patients with tuberous sclerosis. We report on 3 patients with tuberous sclerosis and pathologically aggressive renal angiomyolipoma with retroperitoneal lymph node involvement and/or renal cell carcinoma. All patients have had a benign course. The literature is reviewed and supports the benign nature of this seemingly aggressive disorder. An approach to the evaluation and treatment of a child with tuberous sclerosis and renal angiomyolipoma is presented.     

肾血管平滑肌脂肪瘤1例

患者女,31岁,常规体检超声发现左肾轻度积水,为进一步明确原因前来我院就诊。患者无腰痛、尿急、尿频等症状,无肉眼血尿,尿常规检查未见异常。超声：左肾切面形态失常,轮廓尚规则,肾门下方可见大小约59 mm×34 mm的异常强回声,形状呈类圆形,边缘尚整齐,形态规则,向肾外突出,后方回声稍增强;肾盂分离,     

Symptomatic unilateral renal angiomyolipoma in a child with tuberous sclerosis

We report a case of unilateral renal angiomyolipoma in a 10-year-old boy with tuberous sclerosis. The case is worthy of attention because the symptoms occurred at an early age and because the lesion was unilateral, the latter confirmed at 11-year follow-up. The presentation and treatment are discussed, and the pertinent literature is reviewed. The case demonstrates that it is of clinical importance to monitor renal involvement in children with tuberous sclerosis.     

Renal oncocytoma and tuberous sclerosis. A case report

Renal oncocytoma is a tumour receiving increasing recognition. Recently 3 patients with such tumours were treated at this hospital and a further case with tuberous sclerosis, polycystic disease and unilateral fused kidneys has now been seen.