文档介绍：遗传性肾癌综合征
张洪宪
北京大学第三医院泌尿外科
概述
遗传性肾癌综合征是一种包含肾细胞癌的多临床表现的遗传性疾病
确切发病率不详，保守估计3-5%
发病年龄轻，多双侧发病
多为常染色体显性遗传
影像学在诊断中起重要作用
VHL基因抑癌机制清楚，抑癌作用明显，而且VHL基因只有3个外显子，是基因治疗十分理想的目的基因
目前VHL基因治疗还处在体外研究动物实验阶段
VHL基因治疗将为VHL综合征治疗开辟一个新的方向
随访
VHL综合征合并肾癌的患者应每年复查一次CT或MRI
如果最大肿瘤直径超过3cm，就应对所有肿瘤行肿瘤剜除术或肾部分切除术
有VHL家族病史的人，也应该每年复查一次CT
对于无肿瘤的单纯囊肿，不推荐手术切除
遗传性乳头状肾细胞癌
指的是病人易于罹患肾乳头状细胞癌的状态
与c-Met原癌基因的突变有关，定位于染色体7q31
常染色体显性遗传
临床表现
发病隐匿，多无明显临床表现
多为多灶性，双侧发病
影像学表现为乏血供的肿瘤，CT增强仅表现为轻度强化（增加10-30HU），MRI增强仅15%
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治疗
通常选择肾部分切除术
术中仔细检查，防止遗漏病灶
遗传性平滑肌瘤病及肾细胞癌
A relatively new, rare and aggressive form of HRC syndrome
cutaneous leiomyomas
uterine leiomyomas
renal cell carcinoma
fumarate hydratase, a Krebs cycle enzyme
Genetics
Be mapped to a region on chromosome 1 (-43)
encodes for the HLRCC gene product, fumarate hydratase
an autosomal dominant pattern
the tumor suppressor function of the gene
Clinical features
the finding of severely symptomatic uterine fibroids among affected women within families
often requiring early hysterectomy due to difficulties from menometrorrhagia
89% of affected women underwent hysterectomy
44% before the age of 30
Isolated cases of uterine leiomyosarcomas
Cutaneous leiomyomas are common among affected individuals, though may be difficult to identify
Renal cancers with a prevalence estimated between 2 and 21%
papillary type 2 tumors
potentially misclassified as collecting duct tumors
More recently, detailed histologic description has led to more refined characterization of the pathologic features now termed HLRCC renal tumors
Management
Radiographic appearance of HLRCC tumors may appear partly cystic and poorly defined
Nephron-sparing surgery is less well established in this setting
Surgical intervention must be performed with care to ensure minimal handling of the tumor and complete wide resection, including lymph node dissection
Preoperative PET scans may prove beneficial in cases in which lymph node or nonlocalized disease is su