滑膜肉瘤中TRPS1的表达及意义

Immunohistochemical expression of TRPS1 in synovial sarcoma and its significance

目的 探讨TRPS1在滑膜肉瘤中的表达及意义。方法 收集21例经SS18(18q11)(SYT) FISH检测或SS18-SSX免疫组化检测诊断的滑膜肉瘤。采用免疫组化EnVision两步法检测TRPS1的表达,并复习相关文献。结果 21例滑膜肉瘤中,男性12例,女性9例,年龄17~79岁,中位年龄50岁,平均47.1岁。发病部位:肺、腿、肾各3例,足、腰大肌各2例,直肠、胸腔、踝管、腹股沟区、膝、手掌、鼻腔、前臂各1例。肿瘤最大径1.2~13 cm。眼观:肿瘤切面灰白、灰黄色,实性,伴出血、局灶暗红。镜检:单相纤维型滑膜肉瘤(16/21,76.2%),差分化型滑膜肉瘤(小细胞型)(3/21,14.3%),双相型滑膜肉瘤(2/21,9.5%)。免疫表型:瘤细胞均表达SS18-SSX(18/18,100%)、TLE1(12/12,100%)、BCL2(18/18,100%),部分表达EMA(10/16,62.5%)、CK(12/18,66.7%)、CD99(4/10,40.0%)、SMA(3/16,18.6%)、S-100(3/19,15.8%),desmin均阴性,Ki67增殖指数3%~80%,平均39.9%。FISH检测:11例均为SS18(18q11)分裂阳性。21例滑膜肉瘤均不同程度及强度地表达TRPS1(21/21,100%),其中阳性范围>50%的19例(19/21,90.5%),阳性强度2+及以上19例(19/21,90.5%)。21例患者均经手术切除肿物,20例获得随访,3例术后联合放疗和化疗,18例术后行化疗,7例出现不同程度的复发或转移,9例死亡,病死率45%(9/20)。结论 TRPS1虽然被视为高度敏感和特异的乳腺起源标志物,但在滑膜肉瘤中呈高表达,需警惕其在病理诊断中的陷阱。

Purpose To investigate the expression of TRPS1 in synovial sarcoma(SS)and its significance.Methods Twenty-one cases of synovial sarcoma diagnosed by SS18(18q11)(SYT)fluorescence in situ hybridization(FISH)or SS18-SSX immunohistochemistry were collected.The expression of TRPS1 was detected by immunohistochemistry EnVision two-step staining,and the relevant literature was reviewed.Results There were 21 cases of synovial sarcoma,including 9 females and 12 males,aged 17-79 years,with a median age of 50 years and an average age of 47.1 years.The tumors occurred in the lung(3 cases),legs(3 cases),kidney(3 cases),feet(2 cases),psoas major muscle(2 cases),rectum(1 case),thoracic cavity(1 case),ankle canal(1 case),inguinal area(1 case),knee(1 case),palm(1 case),nasal cavity(1 case),and forearm(1 case).The maximum diameter of the tumor was 1.2-13 cm.Grossly,the tumor section was grayish-white,grayish-yellowish solid,and the lesion with hemorrhage was dark red.Microscopically,there were monophasic fibrous SS(16/21,76.2%),poorly differential SS(small cell)(3/21,14.3%),and biphasic SS(2/21,9.5%).Immunophenotypically,tumor cells expressed SS18-SSX(18/18,100%),TLE1(12/12,100%),BCL2(18/18,100%),partially expressed EMA(10/16,62.5%),CK(12/18,66.7%),CD99(4/10,40.0%),SMA(3/16,18.6%),S-100(3/19,15.8%),and desmin(0/21).The proliferation index of Ki67 ranged from 3%-80%,with an average of 39.9%.FISH test showed that all 11 cases were positive for SS18(18q11)splitting.All 21 cases of SS expressed TRPS1 to varying degrees and intensities(21/21,100%),of which 19 cases(19/21,90.5%)had a positive range of>50%.There were 19 cases(19/21,90.5%)with a positive intensity of 2+or above.All the 21 patients underwent surgical resection of the tumor,and 20 patients received follow-up visits.3 patients treated with postoperative combination of radiotherapy and chemotherapy,18 patients treated with postoperative chemotherapy,and 7 patients showed different degrees of recurrence or metastasis,and 9 patients who received follow-up visits died(45%,9/20).Conclusion Although TRPS1 is regarded as a highly sensitive and specific marker of breast tumor origin,it is also highly expressed in synovial sarcoma,and it is necessary to be vigilant at its pitfalls in the pathological diagnosis.