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

我们对92例骨软组织恶性肿瘤进行了组织学检查和分子基因表达研究。1)利用rt - pcr技术检测嵌合转录物，提取冷冻标本中的总RNA。逆转录RNA，用特异引物PCR扩增cDNA，检测嵌合转录物。15例肿瘤显示SYT-SSX主要的585 bp DNA片段。14;EWS-Flil， 8分；Pax-fkhr, 4；15例含有SYT-SSX嵌合转录物的肿瘤EWS-ATF1.10最初诊断为滑膜肉瘤。其他5个肿瘤最初未分类或在不寻常的位置被认为是滑膜肉瘤；骨，心包，腹膜后。SSX1基因参与11例，SSX2基因参与11例；4肿瘤。2)正常SSX基因表达检测虽然正常SSX基因仅在正常睾丸和甲状腺中表达，但原位杂交法在滑膜肉瘤的上皮成分、纤维区和低分化细胞中均发现了SSX基因的表达。SSX1探针Northern blot分析在所有滑膜肉瘤、6例尤文氏肉瘤、1例胚胎横纹肌肉瘤中检测到重排的SSX1。3)在组织学诊断方面的应用：rt - pcr是一种有用的分子生物学技术，可为滑膜肉瘤与其他骨软组织恶性肿瘤的鉴别诊断提供客观依据；尤文氏肉瘤，肺泡横纹肌肉瘤，粘液样脂肪肉瘤，透明细胞肉瘤。

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.