抗TFE3抗体在脑转移性腺泡状软组织肉瘤诊断中的应用价值

Diagnosis of brain metastatic alveolar soft part sarcoma and application value of anti- translocation factor E3 antibody in it

目的分析脑转移性腺泡状软组织肉瘤（ASPS）的临床病理特征，观察抗TFE3抗体的表达，评价其在诊断中的应用价值。方法收集自2004年1月至2012年12月首都医科大学附属医院收治的8例脑转移性ASPS患者的临床分析，观察临床及影像学特点；应用免疫组织化学及组织化学染色，与10例颅内副神经节瘤对比研究，观察抗TFE3抗体、横纹肌肉瘤标记物（MyoD1）、突触素（Syn）、嗜铬粒蛋白A（CgA）、S-100蛋白等的表达差异。结果8例脑转移性ASPS脑转移性，首次发现原发灶均为30岁以内，其中4例患者原发于下肢；影像学显示单发或多发的肿块影，边界清楚．周围水肿明显，增强扫描有不均匀强化。免疫组织化学方法显示抗TFE3抗体在8例脑转移性ASPS中均为肿瘤细胞核强阳性，MyoD1、Syn、CgA各4例阳性，3例NSE阳性，4例肿瘤细胞中发现抗淀粉酶消化的PAS阳性结晶物质；副神经节瘤10例均表达CgA、Syn，6例支持细胞S．100蛋白阳性。结论ASPS男性更易发生脑转移，抗TFE3抗体对ASPS的诊断有重要价值。TFE3抗体、Syn更有助于ASPS与副神经节瘤的鉴别。

Objective To analyze the clinical pathological characteristics and prognosis of brain metastatic alveolar soft part sarcoma （ASPS） and observe the expression of anti-translocation factor E3 （TFE3） antibodies to evaluate the application value of anti-TFE3 antibodies in the diagnosis of ASPS. Methods The clinical data, imaging characteristics and morphology of 8 patients with brain metastatic ASPS were collected and analyzed; comparative study of the immunohistochemical expressions of TFE3 antibodies, rhabdomyosarcoma markers （MyoD1）, synaptophysin （Syn）, Chromogranin A （CgA） and S-100 was performed in the 8 cases of ASPS and 10 cases ofparaganglioms. Results Eight patients with brain metastatic ASPS were found primary foci before their 30 years, and primary tumors were detectable in lower extremity in 4. Follow-up of 7 patients, 6 were alive after craniotomy for 77, 56, 41, 31, 20 and 4 months. MR imaging showed single or multiple masses with clear boundary, peripheral edema, and inhomogeneous enhancement. Immunohistochemistry showed TFE3 antibodies positive expressions in all the 8 cases, MyoD1, desmin and CgA were positive in 4 and NSE in 3. PAS positive crystalline substances were noted in 4 cases. CgA and Syn were positively expressed in all 10 cases of paraganglioma. Conclusions Brain metastases from ASPS show prevalence for the male. TFE3 antibody has important value in diagnosis of ASPS. TFE3 antibodies, Syn protein may help to differentiate ASPS from paraganglioma.