Management of renal angiomyolipomas associated with tuberous sclerosis complex

PURPOSE: Intensive management is generally recommended for angiomyolipomas associated with tuberous sclerosis complex (TSC), which are known to have a more aggressive nature than sporadic tumors. In this study we evaluated the management of these tumors. MATERIALS AND METHODS: The records of 6 men and 6 women with TSC and a mean age of 28.8 years) with angiomyolipomas treated from 1984 to 2000 were retrospectively analyzed. All patients had bilateral multiple tumors (mean size 6.6 cm). There were 10 lesions classified as small (less than 4 cm), 6 medium (4 to 10 cm) and 8 large lesions (10 cm or greater). Computerized tomography was repeated annually for followup observation and semiannually after embolization. RESULTS: Excluding from study 3 tumors treated prophylactically intervention was required in 20%, 50% and 100% of small, medium and large tumors, respectively. Among 14 tumors followed by observation, 8 grew and 4 required intervention. Uncontrollable hemorrhage did not develop in any patient. While some tumors showed remarkable growth in decade 3, growth did not exceed 1.5 cm per year. Embolization was performed in 11 tumors and tumors shrank in 10. Although 1 patient experienced renal atrophy, all patients but 1 are alive without renal failure with a mean followup of 60 months. CONCLUSIONS: Although asymptomatic angiomyolipomas associated with TSC grow gradually, severe hemorrhage is rare and most tumors can be managed conservatively with annual computerized tomography. Embolization is the first choice of intervention but should be reserved until symptoms develop.     

Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis

The association between Tuberous Sclerosis (TS) and Angiomyolipoma (AML) is well known. A patient with TS and giant AML mimicking Renal Cell Carcinoma (RCC), measuring 29 × 18 × 11 cm, weighing 4700 gr is presented. Imaging studies revealed coexistent pulmonary lymphangioleiomyomatosis and concurrent renal and pulmonary involvement is extremely rare in patients in TS. We believe that the growth potential of this hamartomatous lesion may reach to a life threatening size. This revised version was published online in August 2006 with corrections to the Cover Date.     

结节性硬化症多器官病变的临床特点及影像学诊断价(附3例报告)

目的：探讨结节性硬化症累及多器官病变的临床特点及影像学诊断价值。方法：回顾性分析3例结节性硬化症伴大脑、肾脏、皮肤、肝脏，脾脏、骨骼等多部位病灶的症状，体征及其影像学表现。结果：1例有典型的结节性硬化“三联征”表现，3例均有典型的面部皮疹，1例有癫痫发作史。3例颅脑CT均发现典型的大脑钙化结节灶，3例均伴双肾多发性错构瘤，2例CT及B超检查发现肝脏多发错构瘤，1例有脾脏占位性病变，2例行X线平片，CT及同位素骨扫描显示腰骶椎，髂骨及颅骨存在骨密度增高灶，肝、脾及骨骼病变均无明显症状，结论：结节性硬化症是一种可累及大脑，肾脏，皮肤，肝、脾，骨骼等多系统器官的综合征，颅脑CT显示脑室管膜下钙化灶，对诊断具有特异性，影像学检查可以发现多发性无症状病灶。     

Huge renal angiomyolipomas in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominance disorder with variable penetrance. Renal angiomyolipoma (AML) is one of the commonest urological manifestations. These lesions may cause significant morbidity and mortality. We report two patients with multiple and huge renal angiomyolipomas presenting with gross haematuria. They subsequently underwent unilateral nephrectomy. The difficulty in diagnosis and controversies in management will be briefly discussed.     

结节性硬化症相关肾错构瘤自发性破裂出血临床诊治分析

目的:探讨结节性硬化症相关肾错构瘤(TSC-RAML)自发性破裂出血的临床特点及诊治经验。方法:回顾性分析2009年1月~2014年9月收治的14例TSC-RAML自发性破裂出血患者的临床资料:男4例,女10例,年龄15~40(29.43±7.4)岁。所有患者均行肾脏彩色多普勒超声、腹部增强CT、血常规、尿常规及肝肾功能检查,部分患者行其他部位影像学检查,均符合2012国际TSC共识大会指南诊断标准。10例患者行输血、输液等保守治疗,3例行选择性肾动脉栓塞,1例行肾部分切除。结果:11例患者获得随访,7例病情基本稳定,偶有腰部疼痛等不适;2例患者分别服用雷帕霉素治疗近1年,病情稳定;2例患者因反复病灶出血,分别行选择性肾动脉栓塞术及肾部分切除术。结论:TSC-RAML多见于青年女性,双侧、多发,发病年龄小,进展速度快,出血风险高,而肾功能多在正常水平。对于TSC-RAML自发性破裂出血的治疗,原则上应该尽可能保留肾功能,对生命体征稳定者宜选择保守治疗,否则宜在支持治疗的同时行选择性肾动脉栓塞;手术为最后选择。     

Renal epithelioid angiomyolipoma: 2 Cases report

Introduction

The 2004 World Health Organization Classification of Renal Neoplasms defined epithelioid angiomyolipoma as a potentially malignant mesenchymal neoplasm, characterized by a proliferation of predominantly epithelioid cells with approximately one third of patients experiencing metastases and one half of them having a history of tuberous sclerosis complex.

The tuberous sclerosis complex and its highly variable manifestations

PURPOSE: Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome affecting multiple organ systems and demonstrating highly variable clinical manifestations. Mutations in 2 tumor suppressor genes, TSC1 and TSC2, are linked to the evolution of the hamartomatous lesions. We describe the incidence and epidemiology, variable clinical manifestations and their relationships to renal pathology, and the management of morbid sequelae. MATERIALS AND METHODS: Using the search term tuberous sclerosis, we performed a MEDLINE search of the literature identifying 3,196 articles and selected those from urological, surgical, oncological, genetic and pediatric journals. Special focus was placed on the incidence and management of renal lesions and on different clinical manifestations and how they relate to renal tumors. RESULTS: Due to improved identification of the variable phenotypic expression, the reported incidence has increased. TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. Renal sparing surgery and selective embolization techniques have mitigated the morbidity of the lesions. CONCLUSIONS: We now have a better understanding of the variability at the genotypic and phenotypic levels of the disease. We recommend that patients with tuberous sclerosis complex be evaluated by a multidisciplinary group of clinicians, including urologists, dermatologists, neurologists, pediatricians and geneticists. Close attention to these manifestations is necessary to ensure appropriate treatment of the sequelae of the tuberous sclerosis complex.     

Renal involvement in tuberous sclerosis complex: a retrospective survey

In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.Participating centres and principal investigators (in alphabetical order): Altötting, PD Dr. R. Schmid; Berlin, Charité, Prof. Dévaux; Bern, Dr. Penzien; Bonn, PD Dr. Zerres; Dortmund, Humangenetisches Institut; Dresden, Prof. P. Lorenz; Erlangen, Prof. H.-P. Rott; Freiburg, PD Dr. L. B. Zimmerhackl, Dr. Rehm; Hannover. Prof. J. Brodehl; Heidelberg, Prof. K. Schärer, Fr. Dr. Wingen; Jena, Prof. Misselwitz; Karlsruhe, Prof. Schindera; Leipzig, Prof. Theile, Dr. Wässer; Lübeck, Dr. Kirschstein; Lüdenscheid, Prof. Weber; Marburg, Dr. Nolte; Münster, Dr. Kurlemann, Prof. Bulla; Neuwied, Dr. Gellisen; Rostock, Doz. Dr. Stolpe; Stuttgart, Dr. Köhler, Dr. Holder.     

Emergency embolization of actively bleeding renal angiomyolipoma in a patient of tuberous sclerosis

Renal angiomyolipoma is a benign hamartomatous lesion which contains varying proportions of abnormal blood vessels along with muscle and fat component. Tuberous sclerosis predisposes to angiomyolipoma, and when associated, the lesion is often large with increased risk of hemorrhage and complications. When this occurs, transarterial embolization and surgery are the treatment options. Such a patient presented to us with acute onset of symptoms, and on account of severe anemia with active bleeding, transarterial embolization was performed. This was followed by elective nephrectomy without any complications. We present the imaging aspects of tuberous sclerosis and emphasize role of interventional radiology in this case.     

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     

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

A 5-year-old boy with a known diagnosis of tuberous sclerosis complex was found to have an enlarging renal mass on routine ultrasound. He was diagnosed with an angiomyolipoma (AML) and scheduled for close observation. Follow-up magnetic resonance imaging demonstrated the AML to be significantly enlarged and hypervascular. Selective arterial embolization of the tumor was performed, which resulted in an appropriate decrease in tumor size. Angiomyolipoma is a known and well-described complication of the tuberous sclerosis complex that is usually found among patients in their adolescent and adult years. The case presented here illustrates the need for early and repeated renal imaging of younger pediatric patients with tuberous sclerosis. Our experience adds to the literature on young pediatric patients requiring embolization for treatment of large renal angiomyolipomas.     

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 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.     

Giant abdominopelvic epithelioid angiomyolipoma associated with tuberous sclerosis: Report of a case

(Received for publication on July 16, 1998; accepted on Mar. 11, 1999)