title: Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa.
abstract: Peripheral nerve sheath tumors (PNSTs) are known to occur in the orbit and comprise 4% of all orbital tumors, but have not been well studied in contemporary literature. Ninety specimens involving the eye and ocular adnexa (1979-2015) from 67 patients were studied. The mean age was 32.5years. Locations included orbit (58.9%), eyelid (60.0%), and other ocular adnexa. Most specimens were neurofibromas (70.0%), followed by schwannomas (11.1%), neuromas (11.1%), granular cell tumors (n=4), nerve sheath myxomas (n=2), and malignant PNST (n=1). Fifty-six (88.9%) neurofibroma cases were neurofibromatosis 1 associated. Among neurofibromas, 31.7% were localized, 38.1% were plexiform, 25.4% were diffuse, and 4.8% were diffuse and plexiform. These tumors involved skin (31.7%), soft tissue (11.1%), skeletal muscle (22.2%), peripheral nerve (63.0%), lacrimal gland (20.6%), and choroid (n=1). Other histologic findings included pseudo-Meissner corpuscles (27%), Schwann cell nodules (4.8%), prominent myxoid component (7.9%), melanin-like pigment (3.2%), and inflammation (14.3%). Available immunostains included S100 (+ in 15/15 cases), EMA (+ in 2/4 cases), CD34 (+ in 4/4 cases), and Ki-67 (<1% in 4/4 cases). Among 10 schwannomas, 8 were conventional and 2 were plexiform. Observed features included capsule (n=5), hyalinized vessels (n=5), Verocay bodies (n=7), and Antoni B pattern (n=5). Immunostaining included S100+ in 4 of 4 cases, and collagen IV+ and Ki-67 <1% in 3 of 3 cases. Neurofibromas are the most common PNST involving the eye and ocular adnexa, and the majority are associated with neurofibromatosis 1. Plexiform and diffuse patterns and the presence of pseudo-Meissner corpuscles are relatively frequent in this area.
authors.affiliation: Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21231; Department of Pathology, Massachusetts General Hospital, Boston, MA 02114.
authors.forename: Mingjuan L
authors.initials: ML
authors.lastname: Zhang
authors.affiliation: Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21231.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Suarez
authors.affiliation: The Knights Templar Eye Foundation Professor of Ophthalmology, The Wilmer Eye Institute, Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Bosley
authors.affiliation: Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21231; Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21231. Electronic address: frodrig4@jhmi.edu.
authors.forename: Fausto J
authors.initials: FJ
authors.lastname: Rodriguez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D001706:Biopsy; D002648:Child; D005134:Eye Neoplasms / Q000737:chemistry / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018317:Nerve Sheath Neoplasms / Q000737:chemistry / Q000473:pathology*; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor
keywords: Neurofibroma; Ocular; Orbit; Peripheral nerve sheath tumor; Schwannoma