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.     

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.     

Therapeutic embolization of renal angiomyolipoma: a case report

A case of bilateral renal angiomyolipoma without tuberous sclerosis is reported. A 49-year-old woman was admitted to the general practitioner with a sudden onset of severe left flank pain. An excretory urogram and ultrasonogram revealed an enlargement of the left kidney. She was subsequently referred to our clinic for further investigation and treatment. Computed tomographic scan and magnetic resonance imaging using Tl-weighted image showed several tumors with a fatty, dense area in the bilateral kidney. An arteriogram demonstrated a hypervascular renal mass with aneurysms in her left kidney. Diagnosis of bilateral renal angiomyolipoma was confirmed by percutaneous needle biopsy. Superselective embolization of the tumor was successfully performed, preserving normal renal tissue. Gelatin sponges containing Carboquone (CQ sponge) were used as embolic material. Angiomyolipoma has become relatively easy to diagnose by CT, ultrasound, MRI and so on. However, there are some cases of angiomyolipoma which are indistinguishable from renal cell carcinoma using these modes of testing. Therefore, in selecting a conservative management, we indicated that percutaneous biopsy or open biopsy should be done to confirm the results of the above procedures. Moreover, therapeutic embolization for angiomyolipoma was concluded to be very useful.     

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.     

Nephron-sparing tumorectomy for a large benign renal mass: A case of massive bilateral renal angiomyolipomas associated with tuberous sclerosis

A case of massive bilateral angiomyolipomas (AML) associated with tuberous sclerosis in a 33-year-old woman is reported. She was hospitalized because she had been experiencing abdominal fullness and epigastralgia. Several imaging studies revealed massive bilateral renal tumors and she was diagnosed as having renal AML associated with tuberous sclerosis. Left nephrectomy was carried out after renal arterial embolization for intratumor hemorrhage. Two years after left nephrectomy, nephron-sparing surgery (tumorectomy) for right AML was done because of an increase in the size of the right renal AML and she hoped for a future pregnancy. The left kidney with AML weighed 5700 g and the right AML weighed 1700 g. Postoperative serous creatinine did not differ from that before operation and an increase in the size of the residual tumor was not observed 8 months after operation. We consider that tumorectomy is an effective therapy in patients with a very large tumor involving a solitary kidney.     

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.     

A case of tuberous sclerosis associated with a pineal region tumor

The authors report a rare case of tuberous sclerosis associated with pineal region mixed glioma. A 38-year-old woman with tuberous sclerosis, who had a past history of left nephrectomy and tumorectomy of the right kidney for bilateral renal angiomyolipomas, was admitted because of headache and ataxic gait. CT scan and cerebral angiography suggested a pineal region tumor. Suboccipital craniectomy and partial removal of the tumor was performed via infratentorial supracerebellar approach. Microscopic examination revealed mixed oligodendroglioma and astrocytoma. It is well known that tuberous sclerosis is occasionally associated with brain tumors. However, with few exceptions, these have been subependymal giant cell astrocytomas in the lateral ventricles. They seem to originate from subependymal nodules of hamartomatous nature. As far as we are aware, association of pineal region tumor with tuberous sclerosis as in this case has not been reported.     

Conservative management of giant symptomatic angiomyolipomas in patients with the tuberous sclerosis complex

OBJECTIVE: To present two patients with the tuberous sclerosis complex in whom giant angiomyolipomas (AMLs) were managed conservatively for >20 years, as large (>4 cm) symptomatic AMLs are generally treated with embolization or nephrectomy because of the risks of haemorrhage. PATIENTS AND METHODS: The first patient initially presented with bilateral renal AMLs replacing >70% of his parenchymal volume, and a large left renal cyst. Since presentation he was hospitalized three times, but has had no transfusions or procedures to treat his AMLs. His renal function has remained stable during this 21-year interval. The second patient initially presented with bilateral renal AMLs that were not amenable to nephron-sparing surgery. After removing her nonfunctioning left kidney, the 24-cm AML in her right kidney was managed conservatively for >20 years, during which she had 44 transfusions and 11 hospitalizations before uncomplicated right nephrectomy and subsequent need for haemodialysis. CONCLUSION: Conservative management of AMLs can preserve renal function for >20 years in patients with tuberous sclerosis at high risk of end-stage renal disease.     

Bilateral nephron sparing surgeries for multiple renal angiomyolipomas in Bourneville’s disease

Introduction Angiomyolipomas are the most common renal lesions in tuberous sclerosis complex. When symptomatic, the treatment includes nephron sparing surgery. This is especially challenging when the lesions are bilateral, large and multiple. Case-History A 22-year-old lady with bilateral multiple large symptomatic renal angiomyolipomas associated with other manifestations of tuberous sclerosis was managed with partial nephrectomies on either side. At 30 months of follow-up, the patient has normal renal functions and no evidence of recurrence. Discussion Intervention for renal angiomyolipomas is indicated in symptomatic tumors larger than four centimetres. Selective arterial embolisation is the therapeutic modality of choice in such cases. However, in bilateral cases when angioembolisation may not always be feasible, nephron sparing surgery maybe considered. Nephron sparing surgery of both kidneys for angiomyolipomas in association with tuberous sclerosis has only been sparingly reported in literature.     

Renal tumors associated with tuberous sclerosis: the case for aggressive surgical management

Tuberous sclerosis is associated commonly with renal angiomyolipoma. However, the radiographic differentiation of angiomyolipoma and renal carcinoma can be difficult, and the natural history of angiomyolipoma may be associated with serious complications. We present a case of bilateral renal cell carcinoma associated with tuberous sclerosis. Aggressive but conserving renal surgery should be considered in patients with tuberous sclerosis and enlarging renal masses.     

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; 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.     

结节性硬化症相关肾透明细胞癌一例报告并文献复习

目的 探讨结节性硬化症(tuberous sclerosis complex,TSC)相关肾细胞癌(renal cell carcinoma,RCC)的临床诊治特点.方法 回顾性分析1例TSC相关TCC患者的资料.男,22岁.自幼智障伴癫痫.发现双肾肿瘤5年,间断肉眼血尿2年,曾于1年内2次行超选择性左肾动脉栓塞术,但分别于术后6、10个月再次出现肉眼血尿.查体:智障表现,肥胖,头颈部血管纤维瘤及非创伤性趾甲沟纤维瘤.CT平扫检查左肾有一不规则实性占位,最大截面14.2 cm×9.0 cm,CT值45～54HU,增强扫描病变呈不均匀强化,CT值60～78 HU,左肾静脉内有充盈缺损;右肾见多发脂肪密度占位,CT值-38～-25 HU,最大截面7.2 cm × 5.7 cm.检索Pubmed和CBM数据库进行相关文献复习.结果 患者行经腹开放性左肾根治性切除术,病理诊断肾透明细胞癌,肾静脉内见瘤栓.随访4个月未发现肿瘤复发及转移.结论 TSC相关RCC临床罕见,诊断后可行肾部分切除术或根治性肾切除术.

Abstract：

Objective To explore the diagnosis and treatment features of tuberous sclerosis complex associated renal cell carcinoma.Methods A 22-year-old boy with a childhood history of epilepsy and mental retardation presented with a complaint of intermittent painless gross hematuria for the past 2 years.After superselective left renal artery embolization was done twice in the past year, painless gross hematuria was still repeated with 6- 10 months intervals.Physical examination showed retarded face, obesity, visible facial angiofibroma and a ditch fibroma.CT scan showed irregular lesions.The largest cross-section 14.2 cm × 9.0 cm in the left kidney was inhomogeneous enhanced from 45 - 54 HU in the plain phase to 60 - 78 HU in the contrast phase.Filling defect in the left renal vein and multiple fat-density lesions (CT value of -25 - -38 HU) with the largest cross-section 7.2 cm× 5.7 cm in the right kidney were also found in contrast CT scan.The PUBMED and CBM database were reviewed.Results Open retroperitoneal radical left nephrectomy was performed.Pathology showed renal clear cell carcinoma and renal vein thrombosis.There was no tumor recurrence or distant metastasis at 4-month follow-up.Conclusions Tuberous sclerosis complex associated renal cell carcinoma is rarely reported.Timely nephron-sparing surgery is necessary when the diagnosis is established, or radical nephrectomy is also necessary if nephron-sparing surgery is impossible.     

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.     

Coincidental renal cell carcinoma and renal angiomyolipomas in tuberous sclerosis.

We report a case of bilateral renal multiple angiomyolipomas associated with renal cell carcinoma on one side in a patient with tuberous sclerosis. The difficulties in diagnosis and management of such a condition are discussed.     

双肾血管平滑肌脂肪瘤伴结节性硬化症的诊断治疗

目的总结双肾血管平滑肌脂肪瘤(RAML)伴结节性硬化症(TSC)的发病特点,以提高该病的诊治水平。方法回顾性分析4例双RAML伴TSC患者的临床资料。结果4例患者经B超、CT检查诊断。1例因左肾肿瘤出血行肾切除,1例因右肾肿瘤巨大行肾切除。另2例患者因肿瘤小且症状轻微行保守治疗,随访12~48个月,肿瘤大小无变化,无症状复发。结论B超、CT检查结合临床表现是诊断RAML伴TSC的重要手段。治疗方案应根据双肾肿瘤的大小、分布、发展情况及症状决定。手术时应注意保留正常肾组织,保护肾功能。     

Renal oncocytoma associated with tuberous sclerosis: report of a case

A case of a renal oncocytoma associated with tuberous sclerosis in a 31-year-old woman is reported. She displayed many characteristic skin features of tuberous sclerosis but no central nervous symptoms. Although she complained of dysmenorrhea and hypermenorrhea, she had no complaints related to the kidney. A left renal tumor was discovered incidentally during preoperative examination for gynecologic disease and left nephrectomy was performed. Histologically, the tumor was shown to be a typical renal oncocytoma. This is supposed to be the first case of renal oncocytoma associated with tuberous sclerosis in Japan.     

Bilateral Renal Cell Carcinoma in a Patient with Tuberous Sclerosis

A case of pure bilateral renal tell carcinoma (RCC) in a 21-year-old female diagnosed as having tuberous selerosis is reported. She underwent a left nephrectomv because of her loss of appetite possibly caused by the tumor compressing her intestines. The preoperalive CI scan showed the presence of adipose tissue in bilateral renal tumors, which is highly suggestive of angiomvolipoma (AML). Histological examination, however, revealed no area or component ot the tumor with features characteristic of AML.     

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.     

Tuberous sclerosis, associated with renal cell carcinoma and angiomyolipoma, in a patient who developed endstage renal failure after nephrectomy

We report a case of tuberous sclerosis (TSC) associated with renal cell carcinoma and angiomyolipoma in a patient, who developed endstage renal failure that required hemodialysis after nephrectomy. A 37-year-old woman with TSC was admitted for further investigation of bilateral renal masses detected by computed tomography (CT). Angiography revealed a tumor stain (4 cm in diameter) in the medial portion of the right kidney. Because renal cell carcinoma (RCC) was strongly suspected, right nephrectomy was performed. Her serum creatinine level was already increased, moderately, at 2.4 mg/dl, before the right nephrectomy. Her renal function deteriorated quickly (in 1&frac; years) after the right nephrectomy, and hemodialysis was introduced the next year. The histological findings of the resected right kidney revealed marked intimal thickening of the intralobular arteries. These findings suggested that the renal function loss was not only caused by the nephron mass reduction due to the nephrectomy but was also caused by nephrosclerosis. Though most patients with TSC die before developing endstage renal failure, this patient is currently receiving maintenance hemodialysis and has been followed for 3 years with no recurrence of RCC in the left kidney.