Glass Lora R Dagi, Canoll Peter, Lignelli Angela, Ligon Azra H, Kazim Michael
*Department of Ophthalmology, †Department of NeuroPathology, and ‡Department of NeuroRadiology, Columbia University Medical Center, New York-Presbyterian Hospital, New York, New York, U.S.A.; and §Department of Pathology, Brigham and Women's Hospital, ¶Center for Molecular Oncologic Pathology, Dana Farber Cancer Institute, and ║Harvard Medical School, Boston, Massachusetts, U.S.A.
Ophthalmic Plast Reconstr Surg. 2014 Sep-Oct;30(5):372-6. doi: 10.1097/IOP.0000000000000106.
This study was designed to better understand the biologic nature of optic nerve gliomas (ONGs) and to investigate staining techniques that might improve the pathologic interpretation of surgical margins.
In this retrospective case series, clinical data on patient presentation, MRI, surgical visualization, and initial pathologic interpretation were gathered. Specimens were then reexamined using analysis of p53, isocitrate dehydrogenase 1 (IDH1), MIB-1, and B-rapidly accelerated fibrosarcoma (BRAF) duplication.
Six patients were studied. All were diagnosed with World Health Organization grade 1 ONGs on original pathology. On reexamination, BRAF tandem duplication was found in 2 patients with neurofibromatosis Type 1 association. P53 immunoreactivity was noted in a third case. No cases had IDH1 immunoreactivity. Focal elevations of MIB-1 up to 7.5% were noted in 2 cases.
ONGs are neoplasms with variable degrees of aggressiveness. As more is understood regarding their varied genetic underpinnings, improved pathologic classification and individualized treatment regimens may be achieved. The authors hope that this study helps guide the oculoplastic community toward a multi-institutional, prospective study of ONG genomic sequencing.
本研究旨在更好地理解视神经胶质瘤（ONGs）的生物学特性，并研究可能改善手术切缘病理判读的染色技术。
在这个回顾性病例系列中，收集了患者表现、MRI、手术视野及初始病理判读的临床数据。然后使用p53、异柠檬酸脱氢酶1（IDH1）、MIB-1和B-快速进展性纤维肉瘤（BRAF）重复分析对标本进行重新检查。
对6例患者进行了研究。所有患者最初病理诊断均为世界卫生组织1级ONGs。重新检查时，在2例与1型神经纤维瘤病相关的患者中发现BRAF串联重复。在第三例中观察到p53免疫反应性。未发现IDH1免疫反应性病例。2例中观察到MIB-1局灶性升高至7.5%。
ONGs是具有不同程度侵袭性的肿瘤。随着对其多样的基因基础有更多了解，或许可实现更好的病理分类和个体化治疗方案。作者希望本研究有助于引导眼整形学界开展关于ONG基因组测序的多机构前瞻性研究。
