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 angiomyolipoma in a tuberous sclerosis patient and review of the literature

Introduction

About 20% of renal angiomyolipomas (RAML) are associated with tuberous sclerosis complex (TS). About 34–80% of patients with TS present with RAML. RAMLs associated with TS are at higher risk of potentially life-threatening hemorrhage and hypovolemic shock. Only a few case reports of giant RAML, defined as larger than 10?cm in diameter, and its management, have been reported.

Renal cystic disease in the tuberous sclerosis complex

Renal cysts are relatively common in tuberous sclerosis, occasionally causing severe cystic disease with renal failure. Although the imaging features and gross appearances resemble dominant polycystic kidney disease, the histopathological appearances are distinctive, perhaps unique, differing from appearances in other forms of renal cystic disease. The cysts are lined with hypertrophic and hyperplastic cells that probably cause the cysts by obstructing lumina. The renal abnormality may be inherent in tuberous sclerosis, although inconstantly expressed. Renal enlargement is sometimes the first recognized expression of tuberous sclerosis, and the occurrence of renal cysts in a child with seizures and developmental retardation leads to a strong suspicion of the diagnosis.Presented at the Festschrift for Professor R. H. R. White on March 6, 1992, Birmingham, UK     

动脉栓塞治疗肾血管平滑肌脂肪瘤破裂出血

目的评价选择性动脉栓塞治疗肾血管平滑肌脂肪瘤破裂出血的安全性和有效性。方法3例经B超、CT确诊的肾血管平滑肌脂肪瘤患者,左肾1例,右肾1例,双肾1例,突然出现腰腹痛、神志淡漠,血压下降等出血症状,急诊行选择性肾动脉造影和栓塞治疗,栓塞剂用无水酒精和弹簧圈。结果3例患者造影发现:肿瘤区血管紊乱并有动脉瘤形成,栓塞后造影显示:肿瘤血管血供减少,肿瘤内载有动脉瘤血供闭塞。无严重并发症出现。术后随访患者血压上升,临床症状改善。结论选择性动脉栓塞治疗肾血管平滑肌脂肪瘤破裂出血,能有效地控制出血并能最大限度保护正常肾组织,应作为急诊出血首选治疗方法。     

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.     

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.     

肾血管平滑肌脂肪瘤治疗方式的选择及疗效(附94例报告)

目的探讨肾血管平滑肌脂肪瘤(renal angiomyolipoma,RAML)干预治疗方式的选择及其疗效。方法回顾性分析近5年收治的94例RAML患者的临床资料,其中男25例,女69例,平均年龄42岁,肿瘤平均直径为6.6cm。单发RAML73例,多发RAML21例。结果 RAML破裂出血并行急诊手术4例,其中2例行患肾全切术,2例行选择性动脉栓塞术控制出血后择期行保留肾单位手术(nephron-sparing surgery,NSS);择期手术90例,其中NSS71例,患肾全切术13例,选择性动脉栓塞术2例,射频消融术4例。开放及后腹腔镜下NSS对于直径在7cm以下的RAML在手术时间、出血量及并发症发生率方面差异无统计学意义(P>0.05),而术后住院天数两者的差异有统计学意义(P<0.05)。随访3～48个月,未见肿瘤复发或转移。结论 NSS是RAML的治疗首选,其中腹腔镜NSS对于体积较小的肿瘤具有创伤小、术后恢复快等优势。选择性动脉栓塞对于控制RAML急性破裂出血有独特优势,也用于多发肿瘤及RAML复发等情况。射频消融对于直径较小的RAML微创而有效。     

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.     

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 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.     

A rare co-existence of focal xanthogranulomatous pyelonepheritis,angiomyolipoma and renal cysts simulating renal cell carcinoma

A 70-year-old male presented with left flank pain and history of gross, total painless haematuria of 6 months duration. Investigations revealed a large solid and cystic mass suggestive of renal cell carcinoma in left kidney with possible infiltration of left psoas muscle. Histology of radical nephrectomy showed angiomyolipoma with multiple cysts lined by columnar epithelium suggestive of tuberous sclerosis and focal area of xanthogranulomatous pyelonepheritis. The rare combination of such lesions leading to diagnostic dilemma has not been reported in medical literature to the best of our knowledge.     

肾上皮样血管平滑肌脂肪瘤1例报告及文献复习

目的：探讨肾上皮样血管平滑肌脂肪瘤（EAML）的临床病理特征、诊断、鉴别诊断、治疗方法及预后。方法：通过观察1例肾EAML患者的临床病理学表现与免疫组化标记并复习有关文献,讨论其组织学特征及临床生物学行为。结果：CT平扫呈略高密度实性肿块,边界清楚,病灶内无明显脂肪密度;增强扫描密度相对均匀,实质期强化程度最高,排泄期密度下降较少。镜检示肿瘤细胞弥漫分布,瘤体主要成分为上皮样细胞,细胞异型性明显,大小形状不等,核大且染色明显加深,偶有多核巨细胞,核分裂像明显。免疫组化染色显示瘤细胞HMB45＋,SMA＋,CK-。结论：病史、体检结合影像学检查能够给我们提供重要的诊断线索,组织病理学特点结合免疫组化标记有助于该疾病的确诊,治疗方法以手术切除为主,对于预后较差的患者应按照肾细胞癌标准长期随访。     

后腹腔镜下选择性肾动脉栓塞与肾动脉阻断行肾错构瘤剜切除术的比较

目的比较后腹腔镜下选择性肾动脉栓塞与肾动脉阻断行肾错构瘤剜切除术的安全性及有效性。 方法分析我院2010年1月至2015年12月行腹腔镜下肾错构瘤切除患者的临床资料,共163例,其中选择性肾动脉栓塞后肿瘤吸引及剜除33例,肾动脉阻断肿瘤切除130例,术中行冰冻检查27例,比较两种术式在手术时间、术中出血、术后出血、住院时间等方面的差异。 结果所有病例一期在腹腔镜下完成肿瘤切除,介入后肿瘤剜除或吸出33例,术中出血（ml）、手术时间（min）、术后住院时间（d）和费用（万元）分别为：（41±13）、（47±15）、（3.50±0.24）、（1.63±0.29）;动脉阻断组130例,相应指标分别为：（83±23）、（103±22）、（4.50±0.31）、（1.23±0.35）,术后出血7例,栓塞止血3例,两组比较,介入组优势明显,差异显著（P<0.05）。术后病理诊断透明细胞癌5例（3.1%）,术前、术后总肾功能差异无统计学意义（P>0.05）,随访期间均无肿瘤复发。 结论肾错构瘤选择性肾动脉栓塞后腹腔镜下切除,可以有效降低手术难度、缩短手术时间、减少术中及术后出血风险,有条件的医疗机构值得借鉴。     

双肾多发性血管平滑肌脂肪瘤合并结节性硬化症的诊治分析

目的 总结双肾多发性血管平滑肌脂肪瘤(RAML)合并结节性硬化症(TSC)的临床特点,提高其诊治水平. 方法 回顾性分析2003年1月至2010年10月10例双侧RAML合并TSC的患者资料,男4例,女6例;年龄18 ～45岁,平均28岁.肿瘤破裂出血急诊入院3例,腰痛不适就诊5例,血尿就诊1例,健康体检发现1例.面部有典型的红色丘疹状血管纤维瘤7例,面部有扁平斑1例;合并癫痫症6例;明显智力障碍4例;表现智力障碍、癫痫症、面部血管瘤的典型三联征者2例.肿瘤出血急诊行经导管选择性肾动脉栓塞术1例,行保留肾单位肿瘤剜除术8例9侧,保守观察2例. 结果 急诊行经导管选择性肾动脉栓塞术患者手术顺利,止血有效.8例9侧保留肾单位手术顺利,剜除肿瘤最大者直径8.0 cm.剜除肿瘤2～6个,平均3.5个.手术时间50～120 min,平均70 min.肾动脉阻断平均时间26 min.术中出血量100 ～800 ml,平均150 ml.1例术中输血400ml,未发生术后出血.术后病理诊断均为RAMI.8例术后随访3～60个月,平均25个月,肿瘤未见复发.肾功能均正常.2例保守观察者分别随访2、3年,肿痛无明显增大及出血. 结论 伴有TSC的双侧RAML应早期诊断,适时根据肿瘤大小、位置及发展情况予以治疗,保留肾单位手术及经导管选择性肾动脉栓塞是有效的治疗方法.