Primary, non-exophytic, optic nerve germ cell tumors.
Tumors of the optic chiasm are relatively uncommon and usually associated with phakomatoses such as neurofibromatosis. Even more rare is the presentation of a primary, non-exophytic, isolated optic chiasm germ cell tumor (GCT). These tumors have imaging characteristics nearly indistinguishable from optic chiasmatic gliomas (OCGs). Herein we describe two cases of young men who presented with similar findings of progressive, painless visual loss and hypothalamic-pituitary-adrenal axis dysfunction including diabetes insipidus. Brain imaging was non-diagnostic and suggestive of an OCG. Pathology demonstrated GCTs in each case highlighting the importance of biopsy confirmation of the diagnosis. Both patients underwent a pterional craniotomy and sub-frontal approach to the optic chiasm. The chiasm was diffusely enlarged and discolored in each case without evidence of sellar, suprasellar or perichiasmatic pathology. Pathology demonstrated a malignant mixed GCT in the first patient and a germinoma in the second. This case series highlights the importance of tissue biopsy for patients with progressive symptoms from optic chiasm tumors. Furthermore, this is the first report of a primary, non-exophytic malignant mixed GCT. As the treatment regimens differ widely between optic chiasm GCTs and chiasm gliomas, tissue diagnosis is important.
DiLuna
Michael L
ML
Department of Neurosurgery, Yale University School of Medicine, TMP4, 333 Cedar Street, New Haven, CT, 06510, USA.
Two
Aimee M
AM
Department of Neurosurgery, Yale University School of Medicine, TMP4, 333 Cedar Street, New Haven, CT, 06510, USA.
Levy
Gillian H
GH
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Patel
Toral
T
Department of Neurosurgery, Yale University School of Medicine, TMP4, 333 Cedar Street, New Haven, CT, 06510, USA.
Huttner
Anita J
AJ
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
Duncan
Charles C
CC
Department of Neurosurgery, Yale University School of Medicine, TMP4, 333 Cedar Street, New Haven, CT, 06510, USA.
Piepmeier
Joseph M
JM
Department of Neurosurgery, Yale University School of Medicine, TMP4, 333 Cedar Street, New Haven, CT, 06510, USA. Joseph.Piepmeier@yale.edu.
D001706:Biopsy; D002648:Child; D003399:Craniotomy; D003919:Diabetes Insipidus / Q000473:pathology / Q000601:surgery / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000473:pathology* / Q000601:surgery / Q000628:therapy; D009897:Optic Chiasm / Q000473:pathology* / Q000601:surgery; D019574:Optic Nerve Neoplasms / Q000473:pathology* / Q000601:surgery / Q000628:therapy; D055815:Young Adult