Endolymphatic sac tumors: Histopathologic confirmation, clinical characterization, and implication in von hippel‐lindau disease

Abstract

The term "endolymphatic sac tumor" (ELST) was coined to identify the likely origin of aggressive papillary tumors of the temporal bone. To evaluate the validity of this designation, the temporal bone collection at the Massachusetts Eye and Ear Infirmary was accessed in an effort to determine the pathologic relationship between these tumors and the endolymphatic sac. The search resulted in the identification of a de-novo papillary epithelial lesion arising within the confines of the endolymphatic sac in a patient with von Hippel-Lindau (VHL) disease who harbored a large, destructive ELST in the opposite temporal bone. This finding provides the most substantial evidence to date regarding the origin of the ELST and the accuracy of its nomenclature. Seven additional clinical cases of ELST were identified and analyzed in order to define the natural history of these tumors. All patients had a history of sensorineural hearing loss diagnosed an average of 10.6 years prior to tumor discovery. The presence of a polypoid external auditory canal mass, facial paralysis, and evidence of a destructive mass arising on the posterior fossa surface of the temporal bone were common physical and radiographic findings. The management of these patients, as well as those who are probably prone to such tumors (i.e., VHL patients), is discussed.

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.…”

Schneiderian Papillomas and Nonsalivary Glandular Neoplasms of the Head and Neck

“…Recently, it has been shown that LGPA may be another, albeit infrequent, manifestation of VLD (154,156,159,171). According to Gaffey et al, Ն15% of all LGPAs are associated with VLD (171).…”

Treatment of endolymphatic sac tumour (Papillary adenocarcinoma) of the temporal bone

“…14 Various skull base approaches used in different series were: transmastoid, suboccipital craniotomy, translabyrinthine, infratemporal fossa, transcochlear, combined suboccipital and transmastoid, combined translabyrinthine and suboccipital, combined infratemporal and transcochlear, combined infratemporal and translabyrinthine, combined translabyrinthine and transcochlear, retrolabyrinthine presigmoid, retrolabyrinthine retrosigmoid, temporoparietal craniotomy, combined petroccipital with transsigmoid and translabyrinthine, combined suboccipital with transsigmoid and posterior infratemporal, and combined translabyrinthine and transsigmoid. 8,[13][14][15][16][17][18][19][20] With a complete resection of the tumour the long term prognosis of these patients are good. 8,[13][14][15][16][17][18][19][20] …”

“…8,[13][14][15][16][17][18][19][20] With a complete resection of the tumour the long term prognosis of these patients are good. 8,[13][14][15][16][17][18][19][20] …”