Kovacs G, Brusa P, De Riese W
Laboratory of Cytogenetics, Institute of Pathology, Hanover Medical School, FRG.
Int J Cancer. 1989 Mar 15;43(3):422-7. doi: 10.1002/ijc.2910430313.
We describe a German family carrying a constitutional translocation (3;6) (p13;q25.1) in 3 consecutive generations. The only member of the family over 50 years of age and carrying the translocation developed multiple bilateral renal-cell carcinomas. We performed chromosome analysis of 4 out of 5 primary tumours, which were characterized by different clonal karyotypes. The constitutionally translocated 3p13-pter segment was lost with or without the receptor chromosome 6 in each tumour. Additional karyotypic changes were trisomy 5, 7 and 18, monosomy 14 and 21, and loss of the Y chromosome, all karyotype changes occurring frequently in sporadic non-papillary RCCs. This case is discussed with regard to the possible role of suppressor gene inactivation by constitutional translocation in the development of familial renal cancers.
我们描述了一个连续三代携带染色体结构易位（3；6）（p13；q25.1）的德国家庭。该家庭中唯一一位年龄超过50岁且携带此易位的成员患了多发性双侧肾细胞癌。我们对5个原发性肿瘤中的4个进行了染色体分析，这些肿瘤具有不同的克隆核型特征。在每个肿瘤中， constitutionally易位的3p13 - pter片段伴随着或不伴随着6号受体染色体而丢失。其他核型变化包括5号、7号和18号染色体三体，14号和21号染色体单体，以及Y染色体丢失，所有这些核型变化在散发性非乳头状肾细胞癌中都很常见。本文就染色体结构易位导致的抑癌基因失活在家族性肾癌发生中的可能作用进行了讨论。
