Endolymphatic Sac Tumors in von Hippel-Lindau Disease

Abstract

Diagnosis of ELSTs may be difficult especially when the original site of the lesion cannot be clearly identified. Such tumors may be revealed or may develop with VHL disease. On presentation of a lytic, vascularized tumor of the posterior face of the petrous bone, clinicians should systematically search for other manifestations of VHL disease and propose a VHL genetic testing for patients, and relatives in case of a positive test, to detect early asymptomatic other tumors. The type of VHL mutation might predict the aggressiveness.

CAIX and pax-8 Commonly Immunoreactive in Endolymphatic Sac Tumors: A Clinicopathologic Study of 26 Cases with Differential Considerations for Metastatic Renal Cell Carcinoma in von Hippel-Lindau Patients

“…Further VHL germline mutations were identified in 39% of apparently sporadic ELSTs, highlighting that 32% of patients with VHL present with ELSTs as the initial presentation of VHL. Thus, genetic testing of all patients who present with ELSTs is highly recommended [5,[29][30][31]. Somatic and germline mutation analysis of ELSTs and controls has been performed, with documentation of specific VHL mutations and allelic deletions, although quite diverse given the large genotype variations seen in VHL syndrome [20,[31][32][33][34][35][36].…”

“…Thus, genetic testing of all patients who present with ELSTs is highly recommended [5,[29][30][31]. Somatic and germline mutation analysis of ELSTs and controls has been performed, with documentation of specific VHL mutations and allelic deletions, although quite diverse given the large genotype variations seen in VHL syndrome [20,[31][32][33][34][35][36]. Examples including missense mutations in exon 1 of the VHL gene (p.Asp92Gly), point mutations in exon 1, deletion in exon 1 (p.Val62GlyfsX66), and missense mutations in exon 3 (p.Leu158Pro) [2,31,[34][35][36][37].…”

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

“…They usually present in the third and fourth decades of life; some studies report a female predominance [13,22]. The occurrence of ELST in paediatric patients has also been described [2, 9,11].…”

De Novo Development and Progression of Endolymphatic Sac Tumour in von Hippel-Lindau Disease: An Observational Study and Literature Review

“…1 Symptoms include hearing loss, which may be sudden, or stepwise progressive, tinnitus, vertigo, and rarely facial palsy. [2][3][4][5] Prior to the availability of highresolution magnetic resonance imaging (MRI) and computed tomography (CT), tumors tended to be large and invade the membranous labyrinth and temporal bone. Due to different mechanisms of labyrinthine involvement, neuroimaging studies show little correlation between tumor size and audiovestibular symptoms.…”