Pearls and oy-sters: Primary pineal melanoma with leptomeningeal carcinomatosis - Supplemental figures

Pearls: Pineal masses commonly present with Parinaud syndrome, a triad
consisting of upgaze restriction, convergenceretraction nystagmus, and
pupillary light-near dissociation from compression of the quadrigeminal
plate. The differential diagnosis for pineal region tumors includes germ
cell tumors, pineal parenchymal tumors, glioma, atypical teratoid rhabdoid
tumor and metastatic disease. While exceedingly uncommon, primary pineal
melanoma is also a known histopathologic entity that is suspected to arise
from melanocytes in the pia mater of the pineal gland. Primary pineal
melanoma is often treated with surgical resection, radiation, and either
chemotherapy or immunotherapy. Some patients have received targeted
therapy (such as vemurafenib in patients with BRAF V600E mutation) with
varying degrees of success. Oy-sters: Cerebrospinal fluid (CSF) sampling
can assist in the diagnosis of pineal tumor, specifically to test for germ
cell tumor markers (alphafetoprotein, beta human chorionic gonadotropin,
placental alkaline phosphatase), systemic tumor markers such as
carcinoembryonic antigen, cell-free DNA or malignant cells on
cytopathology.  Pineal tumors can result in obstructive
hydrocephalus, therefore lumbar puncture is not always a feasible option
due to the risk of herniation. In patients with melanoma of the central
nervous system (CNS), a careful survey consisting of systemic imaging and
total body skin examination are warranted to exclude a separate primary
melanoma lesion. The differential diagnosis for rapidly progressive
bilateral sensorineural hearing loss includes meningitis, superficial
siderosis, ototoxicity and leptomeningeal disease. Difficulty in speech
comprehension in excess of pure tone audiometry may suggest involvement or
compression of the inferior colliculus.