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.     

Bilateral Chromophobe Cell Renal Carcinoma in Tuberous Sclerosis Comple

We report on a patient with tuberous sclerosis complex and polycystic kidney disease who developed bilateral chromophobe cell renal carcinoma. We discuss the tuberous sclerosis complex, associated bilateral renal cell carcinoma, polycystic kidney disease and chromophobe cell renal carcinoma; a recently established subtype with a rather favorable prognosis.
In a patient with tuberous sclerosis complex and multiple space-occupying lesions, a diagnosis of angiomyolipoma should be considered first but bilateral and/or multifocal renal cell carcinoma is a likely diagnosis.     

Angiomyolipoma and renal cell carcinoma in same kidney.

A case of renal cell carcinoma and angiomyolipoma occurring in the same kidney in a patient without stigmata of tuberous sclerosis is reported. This case was managed as malignant renal tumor, and the patient underwent radical nephrectomy. Urologic and angiographic literature regarding angiomyolipoma is reviewed, and we find the neovascularity of this benign tumor is only rarely distinguishable from malignant renal tumor.     

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 cell carcinoma associated with tuberous sclerosis: a case report

Renal angiomyolipoma associated with tuberous sclerosis is well known. On the other hand, few cases of renal cell carcinoma in connection with tuberous sclerosis have been reported. We report a patient with tuberous sclerosis whose kidney was involved with renal cell carcinoma. A 18-year-old woman was first admitted in August 1987 for evaluation of left renal tumor. Diagnosis of tuberous sclerosis was made when she was 11 years old on the basis of mental retardation, papules on her face, seizures, white leaf-shaped macules and periventricular calcifications. Computerized tomographic scan demonstrated a large mass arising from the left kidney and small masses in the right kidney. Angiography confirmed bilateral hypervascular renal tumors. On these bases, a clinical diagnosis of bilateral renal angiomyolipomas was made and surgical treatment of the left kidney was recommended because of its large size. However, her parents did not permit treatment until March, 1988. Finally, left nephrectomy of 4,750 g was performed and histological examination revealed renal cell carcinoma with clusters of spindle cells. In the literature available to us, we found twelve reports of malignant renal tumors associated with tuberous sclerosis including five renal cell carcinomas in Japan.     

RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX

Purpose

Renal lesions, including angiomyolipoma, renal cysts (simple and polycystic kidney disease) and renal cell carcinoma, develop in patients with tuberous sclerosis complex. While there is limited information that these lesions may grow in adults with tuberous sclerosis complex, the incidence, characterization and growth rate in children have not been reported. Also, the age at which these lesions first appear, thus providing insight into their natural history, is unknown. We present our data from a longitudinal renal surveillance study of children with tuberous sclerosis complex.

Materials and Methods

Since 1985 children with tuberous sclerosis complex at our hospital have undergone periodic renal imaging by ultrasonography or computerized tomography to monitor renal lesions. A total of 35 girls and 25 boys 1 to 18 years old have undergone at least 2 or more annual renal ultrasounds.

Results

On initial evaluation 33 of 60 children (55%) (mean age 6.9 years) had an identifiable renal lesion, which increased to 48 of 60 (80%) at followup (mean age 10.5 years). Angiomyolipoma was the most frequent lesion (75%) followed by simple renal cysts (17%). Angiomyolipomas increased in size and/or number in 10 of 18 boys (56%) and 18 of 27 girls (66%). The largest growth rate in 1 year was from 0 to 4 cm. and from 5 to 9 cm. in diameter. The youngest patient demonstrated lesions at age 2 years. The average age at which a normal ultrasound became abnormal was 7.2 years. While a total of 27 patients had a normal ultrasound on entering the study, lesions had developed in 15 at followup (11 with angiomyolipomas, 4 with cysts). Five patients had cysts that had disappeared at followup. A 7-year-old boy had a 9 cm. renal cell carcinoma removed. One patient has renal lesions characteristic of autosomal dominant polycystic kidney disease.

Conclusions

Renal involvement in patients with tuberous sclerosis complex begins in infancy, and angiomyolipoma is the most common lesion (75%). Angiomyolipomas are more likely to grow than remain stable, although the rate of growth varies. Simple renal cysts may appear or disappear with time but angiomyolipomas do not disappear. An initially normal renal ultrasound does not rule out future development of lesions. Periodic surveillance is indicated in children with tuberous sclerosis complex.     

Angiomyolipoma and polycystic kidney secondary to Bourneville's tuberous sclerosis

We describe the case of a previously healthy young woman admitted to hospital for abdominal pain and symptoms of shock. The preoperative diagnosis arrived at was polycystic kidney disease associated with ruptured angiomyolipoma. This combined pathology is pathognomonic of tuberous sclerosis; skin signs of the disease were also present in the patient, although undetected till then. The lack of neurological symptoms was an extraordinary finding. Cure is achieved at the cost of nephrectomy.     

Renal failure secondary to angiomyolipoma. Case of Forme-Fruste tuberous sclerosis

A fifty-four-year-old woman without the clinical features of tuberous sclerosis underwent nephrectomy at age thirty-three years for angiomyolipoma, and twenty-one years later severe renal failure developed. At necropsy the remaining kidney had extensive angiomyolipomatous involvement; not until the brain was examined was the diagnosis of tuberous sclerosis made. To date, this would appear to be the third case without clinical tuberous sclerosis in which renal involvement was the sole clinical expression of tuberous sclerosis, and the seventh reported instance of renal failure due to renal angiomyolipomatous hamartomatous transformation.     

A case of renal cell carcinoma associated with tuberous sclerosis]

Tuberous sclerosis is associated commonly with renal angiomyolipoma. On the other hand, the relation between tuberous sclerosis and renal cell carcinoma is not widely recognized. We report a case of renal cell carcinoma of the right kidney associated with tuberous sclerosis.     

Urological counseling and followup in pediatric tuberous sclerosis complex

PURPOSE: We review our experience with renal manifestations in pediatric patients with the tuberous sclerosis complex, and offer recommendations for urological counseling, followup and treatment of these patients. MATERIALS AND METHODS: We reviewed clinical notes on 41 patients with the tuberous sclerosis complex followed at our institution from childhood. Patient data were gathered in a database focusing on renal involvement. The latter was assessed by periodic clinical evaluations and ultrasound. The risk of renal involvement was evaluated in relation to patient age, genotypic pattern and number of extrarenal manifestations. RESULTS: Overall, 15 patients (36.6%) had renal involvement. The latter increased with age and was more common in cases with TSC2 genotypic pattern or multiple extrarenal manifestations. Angiomyolipomas were the most common lesions (11 patients), followed by renal cysts (2) and polycystic kidney disease (2). Cystic lesions were the most common in patients younger than 16 years. Renal failure developed in the 2 patients with polycystic kidney disease by the 2nd decade of life. Overall, treatment was required in 2 cases of symptomatic angiomyolipoma. Both patients were female, and had multiple extrarenal manifestations and bilateral renal involvement. One patient underwent open surgery at age 21.3 years and 1 underwent radiological embolization at age 23.4 years. CONCLUSIONS: Pediatric patients with the tuberous sclerosis complex should undergo urological evaluation and followup. Although most of the lesions remain silent during childhood, the incidence of renal involvement increases with age. The need for treatment is highest in females with multiple extrarenal manifestations and bilateral renal involvement.     

A case of angiomyolipoma in a horseshoe kidney

The patient was 52 years old. She had undergone a breast cancer operation 4 years before this visit. On computed tomography (CT), a left renal tumor in a horseshoe kidney was incidentally pointed out. CT scan showed a 1.8-cm enhanced tumor in the upper pole of the left kidney. It was hyperechoic on ultrasonography. Since renal cell carcinoma could not be excluded preoperatively, left partial nephrectomy was performed. Pathological diagnosis was a renal angiomyolipoma. The incidence of horseshoe kidney is 1 in 400. The occurrence of hydronephrosis, infection and calculous disease is not uncommon. However, a case of angiomyolipoma simultaneously with a horseshoe kidney is very rare, this being the 7th case in the literature.     

Bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis

A case of bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis was described, being in shock with massive hematuria. The left giant angiomyolipoma, filling the almost entire abdomen, was complicated with two large hump and moniliform aneurysms. This life-threatening hemorrhage was successfully treated by transcatheter arterial embolization; packing mechanically detachable coils into the aneurysms and embolization of trunk of the left renal artery. Lymphangioleiomyomatosis has been suggested to be an incomplete expression of tuberous sclerosis. Although coexisting renal and pulmonary involvement in tuberous sclerosis is rare, it is important to recognize lymphangioleiomyomatosis as a pulmonary involvement of angiomyolipoma with tuberous sclerosis.     

Bilateral angiomyolipomas and renal cell carcinoma in polycystic kidney

A case is presented of a twenty-eight-year-old man in whom renal failure developed at age twenty four from polycystic kidney disease known to be present since childhood. He also had cutaneous manifestations of the tuberous sclerosis complex. Intrarenal hemorrhage led to bilateral nephrectomy. Microscopic examination disclosed typical polycystic disease and multiple angiomyolipomas in each kidney. In addition several renal cell carcinomas of oncocytic, papillary, and clear cell type were found. Review of the literature disclosed the uncommon coexistence of any two of these lesions and did not uncover any reported case of the simultaneous existence of all three.     

Angiomyolipoma of the kidney: report of three cases and a statistical study of 194 cases in Japan

Three cases of renal angiomyolipoma are reported. The first case was a 53-year-old female with the complaint of left flank pain. In both cases selective angiography revealed a renal tumor, and computerized tomography disclosed a renal mass with low density corresponding to the fat tissue. From several examinations these two cases were preoperatively diagnosed as renal angiomyolipoma and nephrectomy was performed. Histopathological diagnosis was renal angiomyolipoma. The third case was a 64-year-old female with the complaints of left flank pain and macrohematuria. In this case computerized tomography revealed a renal mass which did not have a low density area. The possibility of renal cell carcinoma was considered and nephrectomy was performed. Histological diagnosis was renal angiomyolipoma which was primarily composed of smooth muscle cells. The first case had a calcified lesion in the brain. But there was no evidence of tuberous sclerosis in the following two cases. Some problems in diagnosis and treatment of renal angiomyolipoma are presented, and a statistical study is made on 194 reported cases of renal angiomyolipoma in Japan.     

Angiomyolipoma: clinical metamorphosis and concepts for management

In 10 years the diagnosis of renal angiomyolipoma was made in 44 patients (female-to-male ratio 8:1) at our institution; 4 cases were associated with tuberous sclerosis. Of these patients 29 underwent surgical exploration because of a renal mass; 11 patients with renal masses that were consistent with angiomyolipoma radiologically have not undergone exploration. Of the 4 patients with and the 29 patients without tuberous sclerosis 1 (25 per cent) and 2 (7 per cent), respectively, had renal cell cancer in association with angiomyolipoma. Metachronous involvement of the contralateral kidney has not been noted in any of our patients who underwent nephrectomy for unilateral involvement, nor has there been progression of the contralateral lesion in 3 patients with bilateral disease without tuberous sclerosis during a followup of about 6 years. Furthermore, we have not noted progression of lesions in the 11 patients under observation for a mean followup of almost 3 years. We recommend elective exploration and a renal preserving operation when possible, not only for patients with pain and hemorrhage but also for the complex multiple lesions occasionally seen in patients who do not have tuberous sclerosis. Lesions associated with tuberous sclerosis require surgical intervention only when they become symptomatic or enlarge silently.     

Conservative surgery of bilateral renal angiomyolipoma during pregnancy

The existence of bilateral renal angiomyolipoma (AML) is fairly infrequent, especially when not associated with such syndromes as tuberous sclerosis or linfangioleimiomatosis. Here we present the case of a 40-year-old woman who was accidentally diagnosed at week 33rd of gestation by an ultrasound, of bilateral renal AML and that could be treated with kidney sparing conservative treatment. We have also done a review of the literature focusing on its management and its relationship with pregnancy.     

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.     

Two cases of renal angiomyolipoma

Two cases of renal angiomyolipoma without tuberous sclerosis are reported. The first case was of a 35-year-old man with complaints of right upper abdominal and right flank pain. Preoperative diagnosis was right renal angiomyolipoma. Thoracoabdominal radical nephrectomy and lymphadenectomy were performed. The pathological diagnosis was renal angiomyolipoma with lymph node involvement. The second case was of a 46-year-old woman whose left renal mass had been accidentally found by ultrasound study. Preoperative diagnosis was left renal angiomyolipoma. This tumor was enucleated from the left kidney through flank incision.     

A case of renal angiomyolipoma treated by partial nephrectomy--the management of renal angiomyolipoma from the conservative point of view

A 25-year-old female was admitted for further investigation of the right renal mass, which was noted during evaluation for hepatitis. She had no personal or family history of stigmas of tuberous sclerosis. On physical examination, a movable hard smooth mass of fist size was palpable in the right abdomen. Drip infusion pyelography revealed an elevation of right kidney. Ultrasonography revealed that the abdominal mass had a high amplitude echo area. On CT the mass was heterogeneous with irregular margin and had regions of low attenuation value, suspicious of a tumor with high fat content. An angiogram of the right renal artery revealed a hypervascular tumor showing multiple saccular aneurysms, and absence of arteriovenous shunting. Based on the aforementioned findings, the mass was diagnosed as renal angiomyolipoma. Partial right nephrectomy was performed through an extraperitoneal approach. Pathological diagnosis was a renal angiomyolipoma. Convalescence was uneventful, and the remaining parenchyma of right kidney was working well on drip infusion pyelography three months after operation. The management of renal angiomyolipoma from the conservative point of view is also discussed.