Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther M M, Lerman M, Linehan W M
Program Resources Inc. (Division of Dynacorp Inc.), Frederick.
J Urol. 1994 Mar;151(3):561-6. doi: 10.1016/s0022-5347(17)35015-2.
We describe a 3 generation family with members affected with papillary renal cell carcinoma, an uncommon histological type of renal cell carcinoma. Multiple tumors of varying size were present in both kidneys of affected family members. The disorder was not linked to polymorphic markers on chromosome 3p and there was no loss of heterozygosity at loci on 3p in renal tumors. The results suggest the presence of a renal cell carcinoma gene not located on 3p that predisposes to renal cell carcinoma with a distinct histological appearance. The inherited disorder in this family appears to be different from recognized hereditary cancer syndromes.
我们描述了一个三代家族,家族成员患有乳头状肾细胞癌,这是一种罕见的肾细胞癌组织学类型。患病家族成员的双肾中都存在多个大小各异的肿瘤。该疾病与3号染色体短臂上的多态性标记物没有关联,肾肿瘤中3号染色体短臂上的基因座也没有杂合性缺失。结果表明存在一个不在3号染色体短臂上的肾细胞癌基因,该基因易导致具有独特组织学表现的肾细胞癌。这个家族中的遗传性疾病似乎与已确认的遗传性癌症综合征不同。