Bugert P, Gaul C, Weber K, Herbers J, Akhtar M, Ljungberg B, Kovacs G
Department of Urology, Ruprecht-Karls-University, Heidelberg, Germany.
Lab Invest. 1997 Feb;76(2):203-8.
The histologic diagnosis of chromophobe renal cell carcinomas is often uncertain because of phenotype overlap among different types of kidney cancers. Recently, in a novel genetic classification of renal cell tumors, a combination of monosomies of chromosomes 1, 2, 3, 6, 10, 13, 17, and 21 have been suggested to have a diagnostic value for this unique type of tumor. Therefore, we have analyzed fresh and paraffin-embedded tissues obtained from 42 chromophobe renal cell carcinomas for allelic losses at the above-mentioned chromosomal regions by employing microsatellite markers. Loss of chromosomes 1, 2, 6, 10, 13, and 17 was detected in between 75% and 95% of tumors, and loss of chromosome 21 was observed in 54% of cases. All but one tumor showed a combination of monosomies at the specific chromosomes. Thus, applying the set of microsatellite markers used in this study, a PCR-based diagnosis of chromophobe renal cell carcinomas could be established within 1 to 2 days. The general applicability of this approach to fresh and paraffin-embedded tissues allows a correct genetic characterization in all cases where a diagnosis based on histopathology remains uncertain.
由于不同类型肾癌之间存在表型重叠，嫌色性肾细胞癌的组织学诊断往往并不确定。最近，在一项肾细胞肿瘤的新基因分类研究中，有人提出1号、2号、3号、6号、10号、13号、17号和21号染色体单体的组合对这种独特类型的肿瘤具有诊断价值。因此，我们采用微卫星标记，分析了42例嫌色性肾细胞癌新鲜组织和石蜡包埋组织在上述染色体区域的等位基因缺失情况。在75%至95%的肿瘤中检测到1号、2号、6号、10号、13号和17号染色体缺失，54%的病例中观察到21号染色体缺失。除1例肿瘤外，所有肿瘤均显示特定染色体上存在单体组合。因此，应用本研究中使用的微卫星标记组合，基于聚合酶链反应的嫌色性肾细胞癌诊断可在1至2天内完成。这种方法对新鲜组织和石蜡包埋组织的普遍适用性，使得在所有基于组织病理学诊断仍不确定的病例中都能进行正确的基因特征分析。
