遗传性肾癌综合征张洪宪课件.pptVIP

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 as fibrofolliculomas纤维毛囊瘤, trichodiscomas毛盘状瘤 acrochordons软垂疣 Genetics autosomal dominant patterns of inheritance chromosome The gene product, folliculin,is thought to be involved in regulation of the mammalian target of rapamycin (mTOR) pathway by acting through folliculin-interacting protein (FNIP-1) and 50-AMP-activated protein kinase Clinical features Classic triad of skin fibrofolliculomas pulmonary cysts renal tumors renal tumors were discovered in 14-- 34%. Spontaneous pneumothoraces occurred in 23% :most common in younger family membe