家族性肾嗜酸细胞瘤：5个家族的临床病理研究
Familial renal oncocytoma: clinicopathological study of 5 families.
作者信息
Weirich G, Glenn G, Junker K, Merino M, Störkel S, Lubensky I, Choyke P, Pack S, Amin M, Walther M M, Linehan W M, Zbar B
机构信息
Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, Maryland, USA.
出版信息
J Urol. 1998 Aug;160(2):335-40. doi: 10.1016/s0022-5347(01)62888-x.
PURPOSE
We analyzed familial renal oncocytoma to provide a foundation for studies aimed at defining genes involved in the pathogenesis of renal oncocytoma.
MATERIALS AND METHODS
We describe 5 families with multiple members affected with renal oncocytoma. Tumors were analyzed pathologically, and affected and nonaffected members were screened clinically and genetically.
RESULTS
We identified 12 affected male and 3 affected female (ratio 4:1) individuals in the 5 families. In affected family members renal oncocytomas were often multiple and bilateral. No metastatic disease was observed. Most renal oncocytomas were detected incidentally in asymptomatic individuals or during screening of asymptomatic members of renal oncocytoma families. One identical twin pair was affected with bilateral multiple renal oncocytomas.
CONCLUSIONS
Renal oncocytoma may be inherited in some families.
目的
我们对家族性肾嗜酸细胞瘤进行分析，为旨在确定参与肾嗜酸细胞瘤发病机制的基因的研究提供基础。
材料与方法
我们描述了5个有多成员患肾嗜酸细胞瘤的家族。对肿瘤进行了病理分析，并对患病和未患病成员进行了临床和基因筛查。
结果
我们在这5个家族中确定了12名患病男性和3名患病女性（比例为4:1）。在患病家族成员中，肾嗜酸细胞瘤常为多发且双侧性。未观察到转移性疾病。大多数肾嗜酸细胞瘤是在无症状个体中偶然发现的，或在对肾嗜酸细胞瘤家族的无症状成员进行筛查时发现的。一对同卵双胞胎患有双侧多发肾嗜酸细胞瘤。
结论
肾嗜酸细胞瘤在某些家族中可能是遗传性的。
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