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Molecular Genetic Analysis of Synovial Sarcoma and its Application for Histologic Diagnosis

滑膜肉瘤的分子遗传学分析及其在组织学诊断中的应用

基本信息

批准号：
09670209
负责人：
NOJIMA Takayuki
金额：
$ 1.98万
依托单位：
Kanazawa 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：
1997
资助国家：
日本
起止时间：
1997 至 1998
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09670209/
关键词：
Synovial sarcoma Malignant soft tissue tumors Gene rearrangements SYT gene SSX gene Histologic diagnosis

项目摘要

We studied 92 malignant bone and soft tissue tumors on the histological examination and molecular gene expression.1) Detection of chimeric transcripts by RT-PCRTotal RNA was extracted from frozen specimens. RNA was reverse transcribed and the resulting cDNA was amplified by PCR using specific primers for detection of the chimeric transcripts. 15 tumors showed a major 585-bp DNA fragment of SYT-SSX.14 ; EWS-Flil, 8 ; PAX-FKHR, 4 ; EWS-ATF1.10 of 15 tumors had SYT-SSX chimeric transcript were initially diagnosed as synovial sarcoma. Other 5 tumors were initially unclassified or were considered synovial sarcoma in unusual locations ; bone, pericardium, retroperitoneum. The SSX1 gene was involved in 11, and the SSX2 gene ; 4 tumors.2) Detection of normal SSX gene expressionAlthough normal SSX gene was only expressed in normal testis and thyroid gland, expression of SSX gene using by in situ hybridization was found in the epithelial component, fibrous areas and poorly differentiated cells of synovial sarcoma cases. Northern blot analysis with SSX1 probe detected rearranged SSX1 in all of synovial sarcoma cases, 6 Ewing's sarcoma, one embryonal rhabdomyosarcoma.3) Application for histological diagnosisRT-PCR can be considered a useful molecular biological technique that can provide objective evidence for differential diagnosis between synovial sarcoma and other malignant bone and soft tissue tumors ; Ewing's sarcoma, alveolar rhabdomyosarcoma, myxoid liposarcoma, claer cell sarcoma.

我们对92例恶性骨与软组织肿瘤进行了组织学检查和分子基因表达的研究。1）RT-PCR检测嵌合体转录本从冰冻标本中提取总RNA。逆转录RNA，并使用特异性引物通过PCR扩增所得cDNA以检测嵌合转录物。15个肿瘤中有SYT-SSX的主要585 bp的DNA片段，14个; EWS-Flil，8个; PAX-FKHR，4个; EWS-ATF 1。其他5个肿瘤最初未分类或被认为是罕见位置的滑膜肉瘤;骨、心包、腹膜后。SSX 1基因与11例滑膜肉瘤有关，SSX 2基因与4例滑膜肉瘤有关。2）正常SSX基因表达的检测虽然正常SSX基因仅在正常睾丸和甲状腺中表达，但原位杂交发现SSX基因在滑膜肉瘤的上皮成分、纤维区和低分化细胞中均有表达。北方印迹法检测所有滑膜肉瘤，6例尤文肉瘤，1例胚胎性横纹肌肉瘤中均有SSX 1基因重排。3）组织学诊断RT-PCR技术可为滑膜肉瘤与其它恶性骨与软组织肿瘤的鉴别诊断提供客观依据;尤文氏肉瘤，腺泡状横纹肌肉瘤，粘液样脂肪肉瘤，克莱尔细胞肉瘤。