遗传性肾癌综合征张洪宪.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 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 suspected Birt–Hogg–Dube syndrome The familial association of perifollicular dermatosis involving the face and trunk among three first-degree relatives was first described by Hornstein and Knickenberg in 1975 Two years later, Drs Birt, Hogg and Dube described clinical dermatologic findings involving 15 family members with similar skin nodules described