滑膜肉瘤SYT-SSX融合基因转录产物的检测及其与病理表型的关系  

Detection of SYT-SSX fusion gene transcripts in synovial sarcoma and its correlation with histological phenotypes

作　　者：李大森[1] 郭卫[1] 沈丹华[2] 唐顺[1] 宋秋静[2] 

机构地区：[1]北京大学人民医院骨与软组织肿瘤治疗中心 [2]北京大学人民医院病理科

出　　处：《中国骨肿瘤骨病》2005年第3期148-153,共6页Chinse Journal Of Bone Tumor And Bone Disease

摘　　要：目的检测滑膜肉瘤新鲜冰冻标本中的SYT-SSX融合基因,分析融合基因亚型与病理表型之间的关系。方法取19例2000年6月至2004年9月间在我院诊断为滑膜肉瘤新鲜冰冻标本,提取组织RNA,应用RT-PCR检测标本中SYT-SSX融合基因,明确不同融合基因亚型所占的比例;再次确认各病例的病理诊断及病理表型,分析融合基因亚型与病理表型之间的关系。结果15例(79%)标本含有SYT-SSX融合基因,其中11例为SYT-SSX1,4例为SYT-SSX2,后者中1例为罕见的SYT-SSX2变异类型。未发现其他融合基因亚型。经再次病理组织学确认,15例被确诊为滑膜肉瘤,其中双向分化型4例,单向分化型10例,分化差型1例。确诊为滑膜肉瘤的15例标本均检测到SYT-SSX融合基因。SYT-SSX2仅见于单向分化型和分化差型的病例。结论应用RT-PCR检测SYT-SSX融合基因对诊断滑膜肉瘤具有高度的敏感性及特异性。保留新鲜冰冻标本,应用恰当的引物检测融合基因,对滑膜肉瘤的基础及临床研究均具有重要意义。Objective To detect SYT -SSX fusion gene transcripts in fresh -frozen synovial sarcoma specimens and analyze the correlation between histological phenotypes and SYT -SSX subtypes. Methods Fresh- frozen specimens from 19 synovial sarcoma patients were studies from July 2000 to September 2004. SYT- SSX fusion gene and its subtypes were determined by RT- PCR. Simultaneously, definite pathological diagnoses were made and histological phenotypes were confirmed. The correlation between histological phenotype and SYT - SSX subtypes were analyzed. Results SYT - SSX fusion gene was detected in 15 cases（79% ） and SYT - SSX1 and SYT - SSX2 was detected in 11 and 4 cases respectively. A rare variant of SYT - SSX2 was found. All these 15 cases were definitely confirmed as synovial sarcoma histologically and SYT - SSX fusion gene was detected in all these cases. 10 monophasic cases and 4 biphasic cases and 1 poorly differentiated case were confirmed and SYT - SSX2 did not exist in biphasic cases. Conclusions RT - PCR is a highly sensitive and specific method in detecting SYT - SSX fusion gene and that is specific for synovial sarcoma. To preserve fresh - frozen specimen and detect fusion gene by RT - PCR with proper primers is meaningful to clinical diagnosis as well as to basic research.

关 键 词：滑膜肉瘤 SYT—SSX融合基因 RT—PCR 变异型SYT—SSX2 新鲜冰冻标本 融合基因 病理诊断 检测标本 表型 转录产物 

分 类 号：R738.5[医药卫生—肿瘤]