摘要
目的探讨软组织肿瘤染色体13q 的基因状态及与肿瘤发生和发展的相关性。方法收集40例患者的41个软组织肿瘤,包括多种分化方向的良性肿瘤9例,低度恶性肿瘤9例,恶性肿瘤23例。应用双色荧光原位杂交(FISH)技术检测染色体13q14中分别包含 Rb、RFP2、KCNRG 和KLF5基因的3个位点 RP11-685I15、RP11-352N7和 RP11-505F3在肿瘤中的改变情况。结果 RP11-685I15位点杂合性缺失(LOH)8例,扩增1例;RP11-352N7位点 LOH 4例,扩增1例;RP11-505F3位点 LOH 3例,扩增3例。3个位点同时出现 LOH 2例。2例内对照位点 RP11-61K9也出现了 LOH。1例恶性外周神经鞘瘤出现3个位点的扩增。13q 异常在不同来源肿瘤中发生率不同。结论软组织肿瘤存在染色体不稳定性,从而增加染色体杂合性缺失和肿瘤抑制基因失活的几率。13q 异常在不同的肿瘤发生模式中起不同的作用。肿瘤抑制基因 Rb、RFP2和 KCNRG 的 LOH 与软组织肿瘤的发生可能有关。
Objective To investigate the genetic status of 13q and its role in the oncogenesis and progress of soft tissue tumors. Methods Forty-one soft tissue tumors, including 9 benign tumors, 9 tumors of malignant potential and 23 sarcomas, were studied by fluorescence in-situ hybridization （FISH） using dual color probes. The probes were generated from BAC clones RPll-685115, RPll-352N7 and RPll- 505F3, corresponding to Rb, RFP2, KCNRG and KLF5 genes respectively. Results Loss of heterozygosity （LOH） of RPll-685115 were found in 8/41 cases, LOH of RPll-352N7 was seen in 4/41 cases and LOH of RP11-505F3 was present in 3/41 cases. LOH of all 3 loci were detected in 2 cases. LOH of RP11-61K9, an internal control locus, was detected in 2 cases. One case of malignant peripheral nerve sheath tumor showed amplification at all 3 loci. Amplification of RPll-505F3 was seen in another 2 cases. Conclusions A significant percentage of soft tissue tumors exhibited chromosomal instability, reflected by an increase of LOH at tumor-suppressing gene loci. The incidence of 13q abnormality was different in various types of soft tissue tumors, indicating that alterations of Rb, RFP2, KCNRG and KLF5 tumor suppressing genes may play diverse roles in different types of soft tissue tumor.
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2007年第9期582-586,共5页
Chinese Journal of Pathology
关键词
软组织肿瘤
原位杂交
荧光
染色体
人
13对
杂合子丢失
Soft tissue neoplasms
In situ hybridization, fluorescence
Chromosomes, human,pair 13
Loss of heterozygosity
