Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)
Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)
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DOI：
10.1002/gcc.1114
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发表时间：
2001-05-01
影响因子：
3.7
通讯作者：
van Kessel, AG
中科院分区：
文献类型：
--
作者：
Eleveld, MJ;Bodmer, D;van Kessel, AG
我们发现了一个新的透明细胞肾癌家族病例和 t(3;6)(q12;q15)。随后的细胞遗传学和分子分析显示，从不同患者获得的肿瘤样本中存在多种异常。在一些（但不是全部）样本中发现了 der(3) 染色体的丢失。在其中一个样本中发现了伴随的 VHL 基因突变。此外，通过分析其中一种肿瘤的多个活检样本，获得了异质性的细胞遗传学和分子证据。根据这些结果和文献报道的结果，我们得出结论，der(3) 缺失和随后的 VHL 基因突变可能代表携带 3 号染色体易位的人患肾细胞癌的关键步骤。此外，初步数据表明其他（表观）遗传变化可能与肿瘤发生有关，(C) 2001 Wiley-Liss, Inc.
We identified a novel familial case of clear-cell renal cancer and a t(3;6)(q12;q15). Subsequent cytogenetic and molecular analyses showed the presence of several abnormalities within tumour samples obtained from different patients. Loss of the der(3) chromosome was noted in some, but not all, of the samples. A concomitant VHL gene mutation was found in one of the samples. In addition, cytogenetic and molecular evidence for heterogeneity was obtained through analysis of several biopsy samples from one of the tumours. Based on these results and those reported in the literature, we conclude that loss of der(3) and subsequent VHL gene mutation may represent critical steps in the development of renal cell cancers in persons carrying the chromosome 3 translocation. Moreover, preliminary data suggest that other (epi)genetic changes may be related to tumour initiation, (C) 2001 Wiley-Liss, Inc.