Primary anterior visual pathway germinoma in a 13-year-old boy: A case report

Abstract

Background: Primary optic nerve and chiasmal germinomas are very rare. These lesions can commonly be mistaken for optic pathway gliomas based on imaging alone. It is radiosensitive and cured in most of the cases.

Case description: We report a rare case of a 13-year-old boy with primary bilateral optic nerves and chiasmal germinoma who underwent partial surgical resection followed by radiotherapy. Follow-up brain imaging after two months post-radiotherapy showed interval regression of the tumor. Our literature review identified that 12 reported cases of primary anterior visual pathway germinoma had been reported to regress significantly post-radiotherapy alone or with chemotherapy.

Conclusion: Histologic correlation is essential for appropriate treatment, alleviating symptoms, and avoiding irreversible vision loss.

Keywords: Chiasmal germinoma; Germ cell tumors; Intracranial germinoma; Optic nerves germinoma.

Figure 1:

(a) Coronal T2-weighted image shows lobulated thickening of the optic chiasm with normal pituitary infundibulum and (b) axial fluid-attenuated inversion recovery shows the involvement of pre-chiasmatic optic nerves and optic tracts, (c) midsagittal contrast-enhanced T1-weighted spoiled gradient recalled echo demonstrates the avid lesion enhancement with involvement of the hypothalamus.

Figure 2:

(a) Hematoxylin and eosin stained section (H&E @ ×20), showing nests of slightly discohesive, large epithelioid cells with abundant cytoplasm and pleomorphic nuclei intermixed with benign lymphocytes, (b) immunohistochemistry reveals positive immunoreactivity against SALL4, OCT4, (c) immunohistochemistry reveals positive immunoreactivity against placental alkaline phosphatase (PLAP), and (d) negative immunohistochemistry for glial fibrillary acidic protein (GFAP), S100, AE1/AE3, CD45, and CD30.

Figure 3:

(a) Coronal T2-weighted image shows interval reduction in the size of optic chiasm thickening (b) no residual enhancing lesion on midsagittal contrast-enhanced T1-weighted magnetic resonance image.