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FISH analysis for EWSR1 gene rearrangement in Ewing sarcoma/PNET

尤文肉瘤/PNET 中 EWSR1 基因重排的 FISH 分析

基本信息

批准号：
17590327
负责人：
HASEGAWA Tadashi
金额：
$ 1.79万
依托单位：
Sapporo Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17590327/
关键词：
pathology fusion gene histology Ewing sarcoma PNET rhabdomyosarcoma FISH EWSR FKHR 横紋筋肉腫小円形細胞腫瘍

项目摘要

To investigate the usefulness of newly developed probes to detect EWS rearrangement results from chromosomal translocations by the FISH technique using formalin fixed, paraffin embedded tissue in the clinical diagnosis of Ewing sarcoma (ES)/PNET, desmoplastic small round cell tumor (DSRCT) and clear cell sarcoma (CCS). Sixteen ES/PNETs, 6 DSRCTs and 6 CCSs were studied in this study. Three poorly differentiated synovial sarcomas (SSs), 3 alveolar rhabdomyosarcomas (RMSs) and 3 neuroblastomas (NBs) served as negative controls. Interphase FISH analysis was performed on FFPE tissue sections with a commercially available EWSR1 (22q12) dual colour, break apart rearrangement probe. As a result, the presence of one fused signal and one split signal of orange and green, which demonstrated rearrangement of the EWS gene, was detected in 14 of 16 (87.5%) ES/PNETs, 6 of 6 (100%) DRSCTs and 5 of 6 (83%) CCSs, but was not detected in the poorly differentiated SSs, alveolar RMSs and NBs. Interphase F … More ISH using this newly developed probe is sensitive and specific for detecting the EWS gene on FFPE tissues and is of value in the routine clinical diagnosis of ES/PNET, DSRCT and CCS.Similarly, we studied 33 RMSs (19 embryonal RMSs including three of sclerosing type and 14 alveloar RMSs). The fluorescence signals were detected for 18 of 19 (94.7%) Embryonal RMSs and 13 of 14 (92. 8%) alveolar RMSs. A split signal pattern was detected in 12 of 13 (92.3%) alveolar RMSs, but in none of embryonal RMSs including three of sclerosing type. Amplification and polyploidy were found to be present in both of embryonal RMSs and alveolar RMSs. Our FISH study highlighted an excellent performance of the commercial break apart probe for detecting rearrangement of the FKHR gene on RMSs. Amplification and polyploidy were detected in both of ERMSs and ARMSs, so be careful when counting the signals of the nuclei. No rearrangement of the FKHR gene found in all three of sclerosing type by FISH assay supported sclerosing RMSs might include embryonal RMSs. Less

目的探讨新开发的探针在尤文肉瘤（ES）/PNET、促结缔组织增生性小圆细胞瘤（DSRCT）和透明细胞肉瘤（CCS）临床诊断中的应用价值。本研究共研究了16个ES/PNTs、6个DSRCT和6个CCS。3例低分化滑膜肉瘤（SS）、3例腺泡型横纹肌肉瘤（RMS）和3例神经母细胞瘤（NB）作为阴性对照。用市售的EWSR 1（22 q12）双色分离重排探针对FFPE组织切片进行间期FISH分析。结果显示，在16例ES/PNS中有14例（87.5%）、6例DRSCT中有6例（100%）、6例CCS中有5例（83%）检测到一个橙子和绿色的融合信号和一个分裂信号，表明EWS基因重排，但在低分化SS、肺泡RMS和NB中未检测到EWS基因重排。间期F ...更多信息用该探针进行原位杂交检测FFPE组织中EWS基因具有敏感性和特异性，对ES/PNET、DSRCT和CCS的常规临床诊断具有重要价值。19个胚胎RMS中有18个（94.7%）检测到荧光信号，14个胚胎RMS中有13个（92.7%）检测到荧光信号。8%）肺泡RMS。13例肺泡型RMS中有12例（92.3%）呈分裂信号，而胚胎型RMS中无一例（包括3例硬化型RMS）呈分裂信号。结果表明，胚胎型和肺泡型RMS均存在扩增和多倍体现象。我们的FISH研究强调了商业分离探针用于检测RMS上FKHR基因重排的优异性能。ERMS和ARMS均存在扩增和多倍体现象，因此在计数细胞核信号时应谨慎。FISH检测三种硬化型RMS均未发现FKHR基因重排，支持硬化型RMS可能包括胚胎型RMS。少