滑膜肉瘤融合基因SYT-SSX的检测及意义分析

目的研究逆转录-聚合酶链反应(RT-PCR)在滑膜肉瘤石蜡包埋组织中检测SYT-SSX融合基因的可行性和意义。方法20例滑膜肉瘤标本均用10％福尔马林固定、石蜡包埋。采用RT-PCR检测SYT-SSX融合基因。看家基因PBGD作为内参照。结果所有标本均可检测到PBGDmRNA的表达。18例(90％)检测到融合基因SYT-SSX的表达。SYT-SSX1型占12例(66．7％)，SYT-SSX2型占6例(33．3％)。结论在经福尔马林固定经石蜡包埋组织的滑膜肉瘤用RT-PCR方法检测SYT-SSX融合基因是可行的，有较高的敏感性。融合基因亚型可能为预后提供重要信息。     

滑膜肉瘤的融合基因检测分析

目的：基于存在染色体易位所致特异的SYT－SSX融合基因,证实可在滑膜肉瘤组织石蜡切片上检测出并探讨其在诊断中的价值。方法：采用逆转录－聚合酶链反应,检测并分析20例滑膜肉瘤（组织学亚型15例单相,5例双相）的SYT－SSX转录物,并对照相应病理学所见,结果：所检20例滑膜肉瘤中,有19例（95％）出现特异SYT－SSX逆转录聚酶链反应产物,其中13例具有SYT－SSX2融合基因的肿瘤有10例呈组织学单相分化。结论：SYT－SSX融合基因转录物可在石蜡切片和组织块中获得满意结果。具有较好的灵敏性,是滑膜肉瘤所特有的诊断标志物,它的亚类分型（SYT－SSX1和SYT－SSX2）,可能成为预后推测指征。     

免疫组织化学染色和SYT-SSX融合基因检测在滑膜肉瘤诊断中的价值

目的评价免疫组织化学染色和SYT-SSX融合基因检测在滑膜肉瘤诊断中的价值与应用范围。方法收集可能为滑膜肉瘤的病例195例,根据临床表现、组织学形态和免疫组织化学染色结果将其分成确诊、高度可疑和可疑滑膜肉瘤,利用逆转录一聚合酶链反应（RT-PCR）技术检测石蜡包埋组织中SYT-SSX融合基因的表达,并比较其与免疫组织化学PV6000二步法染色之间的关系,评价各自的诊断价值。结果确诊、高度可疑和可疑滑膜肉瘤分别为62（31．8％）、49（25．1％）和84例（43．1％）。179例（91．8％）样本能够进行SYT-SSX的RT-PCR检测,其中140例（78．2％）呈阳性。SYT-SSX在确诊、高度可疑和可疑病例中的阳性率分别为94．7％（54／57）、86．0％（37／43）和62．0％（49／79）。上皮膜抗原（EMA）在确诊和高度可疑滑膜肉瘤SYT—SSX阳性病例中的阳性率明显高于其SYT-SSX阴性病例（分别P=0．022,P=0．010）,且EMA与SYT-SSX表达呈正相关（分别rs=0．431,P=0．001．rs=0．463,P=0．002）,而细胞角蛋白、波形蛋白和S-100蛋白在两类病例中的阳性率差异无统计学意义（P〉0．05）;4种指标在可疑滑膜肉瘤SYT-SSX阳性和阴性病例中的表达差异无统计学意义（P〉0．05）。结论利用传统诊断方法可以确诊的滑膜肉瘤不必进行SYT-SSX检测;EMA免疫组织化学染色在高度可疑滑膜肉瘤中的诊断价值与SYT—SSX的RT—PCR检测相近,可以代替后者;但是,融合基因的RT-PCR分析对可疑滑膜肉瘤的确诊具有重要意义。     

滑膜肉瘤石蜡包埋组织SYT-SSX融合基因检测的临床病理意义

目的：探讨在石蜡包埋组织中检测SYT－SSX融合基因的可行性及其对滑膜肉瘤的诊断,分型和鉴别诊断的价值。方法：收集滑膜肉瘤标本38例,以恶性周围神经鞘膜瘤,纤维肉瘤,平滑肌肉瘤,尤文肉瘤,血管外皮肉瘤和转移性腺癌作为对照,共40例,均为甲醛固定,石蜡包埋组织,用逆转录－聚合酶链反应（RT－PCR）方法检测SYT－SSX融合基因mRNA表达,以看家基因PBGD作为内对照检测mRNA质量。结果：78例标本中64例（占82．1％）可检出PBGD mRNA表达,38例滑膜肉瘤中33例中可检出SYT－SSX融合基因mRNA表达,对照组无一例检出SYT－SSX基因,去除PBGD及SYT－SSX均阴性病例1例,滑膜肉瘤SYT－SSX融合基因检出率为89．2％（33／37）,33例SYT－SSX阳性滑膜肉中,SYT－SSX1型22例,SYT－SSX2型6例,5例无法区分。融合基因类型与滑膜肉瘤组织学类型有关。10例双相型滑膜肉瘤均为SYT－SSX1型,而18例单相型滑膜肉瘤中SYT－SSX1型12例,SYT－SSX2型6例,二者差异有统计学意义（P＜0．05）,结论：（1）从石蜡包埋组织中检测SYT－SSX融合基因对滑膜肉瘤有较高的敏感性和特异性,可用于滑膜肉瘤的诊断和鉴别诊断;（2）SYT－SSX融合基因类型与滑膜肉瘤组织学类型相关,SYT－SSX2型仅见于单相型。     

荧光原位杂交检测SYT-SSX融合基因对滑膜肉瘤的诊断价值

目的 建立SYT-SSX融合基因的荧光原位杂交(FISH)检测和评估方法,并探讨其对于滑膜肉瘤的诊断价值.方法 将62例确诊滑膜肉瘤、60例非滑膜肉瘤与133例可疑滑膜肉瘤做成组织芯片,应用FISH技术检测这些病例中的SYT-SSX融合基因,并将FISH结果与以前研究中的逆转录-聚合酶链反应(RT-PCR)结果比较.结果 96.9%(247/255)的病例能够进行FISH分析.FISH对确诊滑膜肉瘤诊断的灵敏度为96.7%(58/60),排除非滑膜肉瘤诊断的特异度为100%(59/59).另外,78.1%(100/128)的可疑滑膜肉瘤经FISH检测为SYT-SSX阳性.在可疑滑膜肉瘤中,FISH与RT-PCR结果的一致率为83.6%(102/122),79.7%(106/133)经RT-PCR或FISH证实为SYT-SSX阳性.结论 应用FISH技术检测SYT-SSX融合基因具有高度的灵敏度和特异度.FISH与RT-PCR结果可以互相证实、互相补充,有助于滑膜肉瘤疑难病例的诊断.     

Myxoid synovial sarcoma: an underappreciated morphologic subset.

Focal myxoid change is a well-recognized feature of synovial sarcoma, but the presence of a predominantly myxoid stroma is rare. We describe seven cases of myxoid synovial sarcoma in which marked myxoid change initially obscured the diagnosis, leading to confusion (principally with malignant peripheral nerve sheath tumor). The median age (20 yr) and tumor location (four lower extremity, two upper extremity, and one head and neck region) were similar to those found in typical synovial sarcoma. Histologically, five cases were monophasic spindle cell lesions with a lacy appearance in areas with a prominent Alcian blue-positive myxoid stroma. Each case had foci with more typical features of synovial sarcoma, including a fascicular growth pattern with a variably collagenized stroma, stromal mast cells, a hemangiopericytoma-like vascular pattern, and calcification. Two cases showed small foci of glandular (biphasic) differentiation. Immunohistochemically, all of the seven cases were positive for epithelial membrane antigen, four of six were positive for pan-keratin, three of six were positive for S-100, two of four were positive for CD99, and six of six were negative for desmin. Clinical follow-up in six cases ranged from 8 to 48 months (median, 21 mo). Local recurrence developed in three patients at 9, 20, and 24 months, respectively. In one of these three patients, lung metastases developed at 13 months, and the patient died of disseminated disease at 23 months. In another of the three patients, lung metastases developed at 27 months. Three patients had no evidence of disease at 8, 15, and 15 months. Our data are too limited to indicate any clinical differences between myxoid synovial sarcoma and conventional synovial sarcoma Recognition of this rare histologic variant of synovial sarcoma is important because it can easily be mistaken for other myxoid spindle cell neoplasms, potentially resulting in suboptimal therapy.     

Primary pulmonary sarcoma with morphologic features of biphasic synovial sarcoma: a case report.

We report an unusual primary case of pulmonary sarcoma that developed in the lung of a 36-year-old woman. The tumor had histologic, immunologic and ultrastructural features identical to those of biphasic synovial sarcoma of the soft tissue. It consisted of an intimate admixture of cytokeratin and epithelial membrane antigen(EMA)-positive neoplastic epithelial cells and vimentin-positive fibroblast-like spindle cells with areas of hyalinization. The patient had a lobectomy and showed no evidence of recurrence or tumor at other sites 15 months after surgery. This case is an useful addition to the small number of published reports on pulmonary synovial sarcoma. The distinctive features of this neoplasm allow it to be different from other types of primary and metastatic malignancies in the lung.