Stiefel Hillary C, Ng John D, Wilson David J, Albert Daniel M
Department of Ophthalmology, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
Ocul Oncol Pathol. 2019 Oct;5(6):424-431. doi: 10.1159/000496207. Epub 2019 Mar 29.
To report a case of orbital cellular epithelioid hemangioma (EH) in which FOSB and CAMTA1 immunostains were used to detect a cytogenetic rearrangement as an adjunctive tool in diagnosis.
Case report.
A patient with a history of prior ligation of a presumed orbital varix presented with recurrent proptosis. Imaging revealed a highly vascular right orbital mass. Microscopic examination revealed a circumscribed neoplasm composed of plump epithelioid endothelial cells with copious mildly eosinophilic cytoplasm and relatively uniform vesicular nuclei. To aid in diagnosis, immunostains for FOSB and CAMTA1 were performed to detect corresponding cytogenetic rearrangements. The presence of multifocal nuclear positivity for FOSB, indicating FOSB genetic rearrangement, and negativity for CAMTA1 were considered reassuring features against a diagnosis of a malignant epithelioid hemangioendothelioma (EHE), supporting a diagnosis of benign cellular EH.
This case report demonstrates that the use of immunohistochemical stains to detect cytogenetic rearrangements may aid in the distinction between benign EH and malignant EHE. It also reminds providers of the clinical and histopathologic features of this lesion, which occurs rarely in the orbit, and helps clarify the evolving nomenclature surrounding epithelioid hemangioma.
报告1例眼眶细胞性上皮样血管瘤（EH），其中使用FOSB和CAMTA1免疫染色检测细胞遗传学重排，作为诊断的辅助工具。
病例报告。
1例既往曾结扎疑似眼眶静脉曲张的患者出现复发性眼球突出。影像学检查显示右侧眼眶有一个血管丰富的肿块。显微镜检查显示为一个边界清楚的肿瘤，由丰满的上皮样内皮细胞组成，胞质丰富、轻度嗜酸性，细胞核呈相对均匀的泡状。为协助诊断，进行了FOSB和CAMTA1免疫染色以检测相应的细胞遗传学重排。FOSB多灶性核阳性（表明FOSB基因重排）以及CAMTA1阴性被认为是排除恶性上皮样血管内皮瘤（EHE）诊断的可靠特征，支持良性细胞性EH的诊断。
本病例报告表明，使用免疫组织化学染色检测细胞遗传学重排可能有助于区分良性EH和恶性EHE。它还提醒临床医生注意这种在眼眶中很少见的病变的临床和组织病理学特征，并有助于澄清围绕上皮样血管瘤不断演变的命名法。
