遗传性肾癌综合征张洪宪课件.pptVIP

谢 谢 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% * * 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 (1q42.3-43) 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 symp