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肾透明细胞肉瘤的比较基因组杂交分析

Comparative genomic hybridization analysis of clear cell sarcoma of the kidney.

作者信息

Barnard M, Bayani J, Grant R, Zielenska M, Squire J, Thorner P

机构信息

Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Med Pediatr Oncol. 2000 Feb;34(2):113-6. doi: 10.1002/(sici)1096-911x(200002)34:2<113::aid-mpo8>3.0.co;2-n.

Abstract

BACKGROUND

Clear cell sarcoma of the kidney (CCSK) is a rare malignant pediatric tumor, distinguished from the Wilms tumor by its characteristic histologic features and a more aggressive clinical behavior with a tendency to metastasize to bone. Genetic studies on CCSK are limited and no consistent findings have been reported.

PROCEDURE

We examined four cases of CCSK for presence of consistent genetic alterations using comparative genomic hybridization (CGH). This is the first report concerning CGH analysis of CCSK.

RESULTS

Three of the tumors showed no chromosome gains or losses. One of the tumors had gains of 1 q and the terminal end of 11 q.

CONCLUSIONS

These results are consistent with previous findings of limited chromosomal changes in CCSK karyotypes. Gain of 1 q in CCSK warrants further investigation. Copy number gains of 1 q have been repeatedly demonstrated in soft tissue and bone sarcomas, as well as other tumors, implying the presence of genes involved in tumor development and/or progression.

摘要

背景

肾透明细胞肉瘤(CCSK)是一种罕见的儿童恶性肿瘤,通过其特征性组织学特征与肾母细胞瘤相区分,且临床行为更具侵袭性,有向骨转移的倾向。关于CCSK的遗传学研究有限,尚未有一致的研究结果报道。

方法

我们使用比较基因组杂交(CGH)技术检测了4例CCSK病例中是否存在一致的基因改变。这是关于CCSK的CGH分析的首篇报道。

结果

3例肿瘤未显示染色体增减。1例肿瘤有1q和11q末端的增加。

结论

这些结果与之前关于CCSK核型中染色体变化有限的研究结果一致。CCSK中1q的增加值得进一步研究。1q的拷贝数增加在软组织和骨肉瘤以及其他肿瘤中已被反复证实,这意味着存在参与肿瘤发生和/或进展的基因。

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