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.
The authors reassess optic nerve gliomas using p53, IDH1, MIB-1, and BRAF duplication, with clinical correlation in an attempt to motivate future genomic sequencing studies.
*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.
Accepted for publication December 17, 2013.
This material has been presented, in part, at the Orbital Society Symposium on September 2012 in Buenos Aires, Argentina, and at the ASOPRS Annual Meeting November 2012, in Chicago, IL.
Supported by Orbital Disease Education and Research Foundation.
The authors have no financial or conflicts of interest to disclose.
Address correspondence and reprint requests to Lora R. Dagi Glass, MD Edward S. Harkness Eye Institute, 635 West 165th Street, New York, NY 10032. E-mail: firstname.lastname@example.org