眼眶和眼睑炎性肌纤维母细胞瘤13例临床和组织病理学特征分析

Orbital and eyelid inflammatory myofibroblastic tumors:a clinicopathological analysis of 13 cases

目的探讨眼眶和眼睑炎性肌纤维母细胞瘤(IMT)的临床和组织病理学特征,为诊疗提供依据。方法回顾性病例系列研究。收集2000年1月至2023年10月在天津市眼科医院确诊为眼眶和眼睑IMT并行肿瘤切除术患者的临床资料,包括临床表现、临床病理学资料、免疫组织化学染色结果[波形蛋白、α平滑肌肌动蛋白(α-SMA)、间变性淋巴瘤激酶(ALK)1、细胞角蛋白、结蛋白]、分子检测及随访结果,进行观察和总结。结果共纳入13例患者(13只眼),男性7例,女性6例;年龄为44(22,68)岁;左眼6例,右眼7例。发病年龄为5~76岁,肿瘤切除术前病程1个月至2年。IMT位于眼眶10例(其中1例为全身多发病灶),位于眼睑3例。光学显微镜下可见梭形或卵圆形纤维母细胞及肌纤维母细胞增殖,间质呈不同程度的黏液样变性至胶原化,背景中浸润多少不等的淋巴细胞和浆细胞。免疫组织化学染色波形蛋白阳性13例(13/13),α-SMA阳性13例(13/13),ALK1阳性5例(5/11),细胞角蛋白局部阳性1例(1/1),结蛋白阳性1例(1/6)。ALK荧光原位杂交检测阳性2例(2/3),Epstein-Barr病毒编码小RNA原位杂交检测阴性6例(6/6)。随访9例,时间为7~139个月,7例无瘤生存,2例复发,无死亡和转移者。结论眼眶和眼睑IMT主要发生于成人,多数为局限性病变,预后良好。组织病理学特征为以纤维母细胞及肌纤维母细胞增殖为主,须依据肿瘤组织病理学形态以及ALK1和α-SMA等免疫组织化学染色及分子检测特征进行综合诊断。

Objective To investigate the clinicopathological features of orbital and eyelid inflammatory myofibroblastic tumors(IMTs).Methods A retrospective analysis was conducted among 13 patients with IMTs treated at Tianjin Eye Hospital between January 2000 and October 2023.The clinicopathological data,immunohistochemical staining characteristics,molecular phenotypes,and follow-up outcomes were collected and analyzed.Results The study cohort comprised 7 males and 6 females.The median age was 44(22,68)years.The tumor was observed in the left eye in 6 cases and the right eye in 7 cases.The age at onset ranged from 5 to 76 years,with a disease course of 1 month to 2 years before tumor excision.The tumor was located within the orbit in 10 cases(including one case of a systemic multifocal lesion)and in the eyelid in 3 cases.Pathological characteristics of the tumors were mainly proliferation of spindle or ovoid fibroblasts and myofibroblasts,with varying degrees of mucoid degeneration or collagenization of the mesenchyme,and varying amounts of lymphocytes and plasma cells infiltrated in the background.Immunohistochemical analysis revealed that Vimentin andα-SMA were positive in all cases(13/13,13/13),ALK1 was positive in 5 cases(5/11),CK was positive in 1 case(1/1),and Desmin was positive in 1 case(1/6).ALK fluorescence in situ hybridization was positive in 2 out of 3 cases,and EBER in situ hybridization was negative in 6 cases.Nine patients were available for the follow-up of 7 to 139 months.Seven patients remained tumor-free,2 experienced relapses,and no deaths or metastases were reported.Conclusions Orbital and eyelid IMTs predominantly occurred in adults,with localized lesions in most cases and favorable prognoses.The disease was histopathologically characterized by proliferation of fibroblasts and myofibroblasts.The accurate diagnosis depended on a comprehensive assessment of the morphological features of the tumor histopathology as well as immunohistochemical markers such as ALK andα-SMA,and molecular detection.