眼眶原发性间叶性软骨肉瘤

Mesenchymal chondrosarcoma of orbit

眼眶间叶性软骨肉瘤是一种较罕见的眼部肿瘤,男女发病率为1.1:1,单侧发病,好发于青年人,分子遗传学方法可检测到HEY1-NCOA2基因融合。疾病早期以眼球突出、视力下降等眼球压迫表现为主,严重者可侵犯邻近组织,但发生远处转移的情况非常少见。影像学上特征性钙化灶有助于术前辅助诊断。间叶性软骨肉瘤在病理组织形态上是具有典型双向分化特征的小圆细胞肿瘤,其鉴别诊断存在一定难度。治疗目前仍以手术切除为主,但复发率高,术后加以放疗可改善预后。

Orbital mesenchymal chondrosarcoma is a relatively rare ocular neoplasm,and the male:female ratio is 1.1:1.It is unilateral and occurs mainly in young adults which HEY1-NCOA2 gene fusion can be detected by molecular genetics.In the early stage,ocular compression symptoms such as proptosis and diminution of vision are the main symptoms.In severe cases,it may invade adjacent structures or organs,but distant metastasis is very rare.Characteristic calcification on imaging is helpful to assist the preoperative diagnosis.Mesenchymal chondrosarcoma is difficult to differentiate in histopathology which is a small round-cell tumor with typical biphasic histology.Currently,this tumor is treated primarily with surgical resection,and the recurrence rate is high,postoperative radiotherapy may improve the patient's prognosis.