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比较基因组杂交显示,在伴有肉瘤样转化的肾癌中,13号染色体长臂和4号染色体长臂频繁缺失。

Comparative genomic hybridization reveals frequent chromosome 13q and 4q losses in renal carcinomas with sarcomatoid transformation.

作者信息

Jiang F, Moch H, Richter J, Egenter C, Gasser T, Bubendorf L, Gschwind R, Sauter G, Mihatsch M J

机构信息

Institute of Pathology, University of Basel, Switzerland.

出版信息

J Pathol. 1998 Aug;185(4):382-8. doi: 10.1002/(SICI)1096-9896(199808)185:4<382::AID-PATH124>3.0.CO;2-4.

Abstract

Renal cell carcinomas (RCCs) with sarcomatoid transformation show the most malignant behaviour of all renal carcinoma types. In this study, comparative genomic hybridization was used to screen for losses and gains of DNA sequences along all chromosome arms in 12 sarcomatoid (S) RCCs. On average, there were 8.6 aberrations per tumour. DNA sequence losses (5.2 +/- 4.4) were slightly more frequent than gains (3.4 +/- 2.6). DNA gains most often involved chromosomes 17 (33 per cent), 7, and 8q (25 per cent each). High-level co-amplification involving 11q22-23 and 7p21-22 in one SRCC was not present in adjacent non-sarcomatous tumour areas, raising the possibility of oncogene involvement at these loci for sarcomatoid transformation. DNA losses were most prevalent at 13q (75 per cent) and 4q (50 per cent), suggesting that inactivation of tumour suppressor genes at chromosomes 13q and 4q may be linked to sarcomatoid growth of RCC. It is concluded that SRCCs are genetically highly complex. Chromosomes 13q, 4q, 7p21-22, and 11q22-23 may carry genes with relevance for sarcomatoid growth in RCC.

摘要

具有肉瘤样转化的肾细胞癌(RCC)表现出所有类型肾癌中最恶性的行为。在本研究中,采用比较基因组杂交技术对12例肉瘤样(S)RCC的所有染色体臂上DNA序列的缺失和增加进行筛选。平均每个肿瘤有8.6个畸变。DNA序列缺失(5.2±4.4)比增加(3.4±2.6)略为常见。DNA增加最常涉及17号染色体(33%)、7号染色体和8q(各25%)。在一个SRCC中涉及11q22 - 23和7p21 - 22的高水平共扩增在相邻的非肉瘤样肿瘤区域不存在,这增加了这些位点的癌基因参与肉瘤样转化的可能性。DNA缺失在13q(75%)和4q(50%)最为普遍,提示13q和4q染色体上肿瘤抑制基因的失活可能与RCC的肉瘤样生长有关。结论是SRCC在遗传上高度复杂。13q、4q、7p21 - 22和11q22 - 23染色体可能携带与RCC肉瘤样生长相关的基因。

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