Should Endolymphatic Sac Tumors Be Considered Part of the Von Hippel-Lindau Complex? Pathology Case Report

Abstract

ELS tumors are uncommon, and, to our knowledge, only seven cases associated with vHL disease have been reported in the literature. Although this association has been previously mentioned, no definitive studies have linked the two together. We report the eighth case of ELS tumor and vHL disease. We have demonstrated through molecular biological techniques, that, in our patient's tumor, a genetic mutation occurred, and that this mutation is similar to mutations previously reported in other neoplasms associated with vHL. We therefore suggest that ELS tumors be considered among the neoplasms associated with vHL.

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

“…VHL mutations are detected in 10-40% of individuals with isolated central nervous system hemangioblastoma, 175 46% of those with isolated retinal capillary hemangioma, 176 3-11% of those with isolated pheochromocytoma, 93,95,96,150,175,177,178 and about 20% of those with an endolymphatic sac tumor. [179][180][181][182][183] Single cases of unilateral, unifocal RCC diagnosed at or after age 50 are insufficient to warrant referral to genetic counseling. 175,184 Referral should be considered for any individual with a personal history of or first-degree relative with (i) clear cell RCC if he or she (a) has bilateral or multifocal tumors, (b) is diagnosed before age 50, or (c) has a close relative with clear cell RCC; (ii) central nervous system hemangioblastoma; (iii) pheochromocytoma; (iv) endolymphatic sac tumor, or (v) retinal capillary hemangioma.…”

Endolymphatic sac tumour (ELST). of a rare tumour of the temporal bone, presenting as a mass in a cerebello-pontine angle

“…30% of patients with VHL syndrome and endolymphatic sac tumours have bilateral disease [24]. When ELSTs occur bilaterally, von Hippel-Lindau syndrome is always present [31], and in most reports, ELST may be a manifestation of VHL syndrome [24,29,30,34].…”

Adenocarcinoma do saco endolinfático: relato de caso

“…Os pacientes com doença de von Hippel-Lindau apresentam predisposição para desenvolver ASE, sendo 15% destes tumores relatados em pacientes com aquela doença 13 . O ASE foi detectado por meio da ressonância magnética em 11% de 121 pacientes com doença de von Hippel-Lindau; por outro lado, este tumor não ocorreu em 253 pacientes sem a referida doença 14 .…”

“…O ASE foi detectado por meio da ressonância magnética em 11% de 121 pacientes com doença de von Hippel-Lindau; por outro lado, este tumor não ocorreu em 253 pacientes sem a referida doença 14 . Foi demonstrado que o ASE contém uma mutação na região do exon 1 do gene von Hippel-Lindau 13 .…”