The vast majority of patients with an endolymphatic sac tumor have von Hippel-Lindau syndrome.

Other tumors which need to be excluded include a neuroendocrine adenoma of the middle ear (middle ear adenoma), paraganglioma, and endolymphatic sac tumor.

An endolymphatic sac tumor is a very uncommon papillary epithelial neoplasm arising within the endolymphatic sac or endolymphatic duct.

These may develop in the retinas of the eyes (retinal hemangioblastomas) or in the brain or spinal cord, or in the inner ear (endolymphatic sac tumors).

Von Hippel-Lindau disease is a dominantly inherited cancer syndrome that massively increases the risk of various tumors including benign hemangioblastomas and malignant pheochromocytomas, renal cell carcinomas, pancreatic endocrine tumors and endolymphatic sac tumors.

The most common tumours found in VHL are central nervous system and retinal hemangioblastomas, clear cell renal carcinomas, pheochromocytomas, pancreatic neuroendocrine tumours, pancreatic cysts, endolymphatic sac tumors and epididymal papillary cystadenomas.

From a pathology perspective, an endolymphatic sac tumor needs to be separated from metastatic renal cell carcinoma, metastatic thyroid papillary carcinoma, middle ear adenoma, paraganglioma, choroid plexus papilloma, middle ear adenocarcinoma, and ceruminous adenoma.