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.

Tuberous sclerosis complex associated renal clear cell carcinoma ( a case report and literature review)

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.