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首页> 外文期刊>Journal of Pathology: Journal of the Pathological Society of Great Britain and Ireland >Chromosomal abnormalities in renal cell neoplasms associated with acquired renal cystic disease. A series studied by comparative genomic hybridization and fluorescence in situ hybridization.
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Chromosomal abnormalities in renal cell neoplasms associated with acquired renal cystic disease. A series studied by comparative genomic hybridization and fluorescence in situ hybridization.

机译:与获得性肾囊性疾病相关的肾细胞瘤中的染色体异常。通过比较基因组杂交和荧光原位杂交研究的系列。

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摘要

Sporadic renal cell carcinomas (RCCs) display different chromosomal abnormalities according to their morphology; gains of chromosomes 7 and 17 and loss of Y are commonly observed in papillary lesions, whereas loss of 3p sequences and multiple losses of specific chromosomes are found in non-papillary and chromophobe cell carcinomas, respectively. Acquired renal cystic disease (ARCD) is associated with an increased incidence of renal cell tumours, especially papillary lesions. The aim of this study was to examine a series of ARCD-related tumours for chromosomal abnormalities and to compare the findings with those abnormalities commonly observed in sporadic RCCs. Nine tumours from four patients with ARCD were examined using comparative genomic hybridization (CGH) and interphase cytogenetics. Gain of chromosomes 7 and 17 was observed in all four papillary lesions and loss of Y in three. In addition, gain of chromosome 16 was observed in three papillary tumours. Three chromophobe RCCs originating from the same kidney showed different genomic profiles; two had no abnormalities, whereas one showed loss of chromosome 17p. Two non-papillary RCCs failed to show chromosome 3p alterations. In conclusion, renal cell tumours developing in ARCD may show chromosomal abnormalities both similar to and different from those seen in sporadic tumours.
机译:散发性肾细胞癌(RCCs)根据其形态表现出不同的染色体异常。在乳头状病变中通常观察到7号和17号染色​​体的获得以及Y的缺失,而在非乳头状和发色细胞癌中分别发现3p序列的缺失和特定染色体的多个缺失。获得性肾囊性疾病(ARCD)与肾细胞肿瘤(尤其是乳头状病变)的发生率增加相关。这项研究的目的是检查一系列与ARCD相关的肿瘤的染色体异常,并将发现结果与散在RCC中通常观察到的异常进行比较。使用比较基因组杂交(CGH)和相间细胞遗传学检查了四名ARCD患者的九个肿瘤。在所有四个乳头状病变中均观察到了7号和17号染色​​体的增益,其中三个中的Y缺失。另外,在三个乳头状肿瘤中观察到16号染色体的获得。来自同一肾脏的三个发色RCC显示出不同的基因组图谱。 2例无异常,而1例显示17p染色体丢失。两个非乳头状RCC未能显示3p染色体改变。总之,在ARCD中发展的肾细胞肿瘤可能显示出与散发性肿瘤相似和不同的染色体异常。

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