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Small Endolymphatic Sac Tumor Associated With Gradual Hearing Loss. A small endolymphatic sac tumor (ELST) with no evidence of intralabyrinthine hemorrhage or otic capsule invasion in a 31-year-old patient with von Hippel-Lindau disease. The patient experienced gradual hearing loss (from normal hearing to moderate/severe loss on audiogram) over a 5-year period, intermittent vertigo, and tinnitus. A, Axial precontrast computed tomography (CT) image demonstrates erosion of the posterior temporal bone by an ELST (black arrowhead) located at the vestibular aqueduct. Axial magnetic resonance images of the temporal bone, B (T1-weighted) and C (FLAIR), reveal a hyperintense signal (black arrowheads) in the location of the tumor. No evidence of intralabyrinthine hemorrhage is present as demonstrated by the normal hypointense signal seen in the vestibule and cochlea in both B and C. CN indicates cranial nerve.
Source publication
Endolymphatic sac tumors (ELSTs) are associated with von Hippel-Lindau disease and cause irreversible sensorineural hearing loss (SNHL) and vestibulopathy. The underlying mechanisms of audiovestibular morbidity remain unclear and optimal timing of treatment is not known.
To define the mechanisms underlying audiovestibular pathophysiology associated...
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Background
To explore the long-term efficacy and safety of resection of the lateral wall of the endolymphatic sac for the treatment of intractable Meniere's disease (MD) as an alternative surgical procedure for treating this disorder.
Methods
Data from 73 patients who were referred to our hospital and diagnosed with unilateral MD between January 2...
Citations
... However, based on our data, type A and type B of Schippers' system presented similar clinical features and recurrent/residual rates as well as similar requisition of surgical approaches. In addition, a later study reported that ELST related SNHL was associated with endolymphatic hemorrhage and endolymphatic hydrops [10], which explained the frequent SNHL in both of type A and type B. Therefore, we combined them into one type (type-I) in our staging system. (Table 4). ...
Purpose
To review the resections of endolymphatic sac tumor (ELST) and describe our experience in the surgical management of ELST.
Methods
Retrospective investigation of consecutive patients who underwent resection of ELSTs at our hospital between 1999 and 2019. The symptoms, diagnosis, surgical findings, and outcomes were analyzed to develop a tumor staging system and corresponding surgical strategy.
Results
Retrospective review revealed the surgical treatment of 22 ELSTs. Based on intraoperative findings of tumor extent and size, ELSTs were classified into two types. Type-I (n = 6) referred to the small tumors that were locally confined with limited invasion of semicircular canals and dura; type-II (n = 16) referred to the large tumors that presented extensive erosion of at least one anatomic structure apart from the semicircular canals and the dura around endolymphatic sac. In this case series, Type-I ELST is amenable to resection through a transmastoidal approach, and subtotal petrosectomy is appropriate for the resection of type-II ELST. Sensorineural hearing loss (SNHL) is the most commonly preoperative symptom in both two types of cases. Five type-II ELSTs experienced recurrence and underwent reoperation, whereas all type-I ELSTs did not.
Conclusion
ELST usually results in SNHL (95%) at the time of diagnosis. The surgical strategy and prognosis of ELST resections are different between type-I and type-II: type-I ELST is amenable to transmastoidal approach with the preservation of facial nerve, whereas type-II ELST increase the surgical difficulty and the risk of recurrence, and subtotal petrosectomy is the basic requirement for the resection of type-II ELST.
... Previously, the management of ELSTs (particularly for small and asymptomatic tumors) was conservative, due to the uncertain natural history of ELST tumours and that they are not classified as malignant or fast growing. However, since significant audiovestibular dysfunction, including deafness, can occur suddenly without any apparent correlation with tumor size, early surgical intervention may be warranted [9]. Some ELSTs may require pre-or post-operative radiation therapy, although this topic is currently controversial [10]. ...
... Three distinct mechanisms are described to explain the occurrence of hearing loss in patients with ELST [9]. The first mechanism is related to otic capsule invasion which is often caused by larger tumors that directly erode into the inner ear and destroy the membranous labyrinth. ...
Purpose
Most ELST data in the literature are case studies or limited to small cohorts (< 16 patients). We evaluated the main clinical signs observed at endolymphatic sac tumor (ELST) diagnosis in patients with or without Von Hippel-Lindau disease.
Methods
We conducted a comprehensive literature search in PubMed, Scopus, and Web of Science. We included studies with at least 1 patient, of any age, affected by sporadic or VHL-related ELSTs reporting levels of hearing loss and facial nerve function and a comprehensive description of presenting symptoms at ELST diagnosis. We combined data for proportional meta-analysis. p values of 0.05 were considered statistically significant. Methodological quality was evaluated. Analyses were performed with MedCalc 14.8.1 software.
Results
A total of 26 studies, including 113 patients and 118 cases of ELSTs were included. Pooled proportion rates (95% CI) of overall hearing loss was 88.7%, (82.4–93.4), severe hearing loss was 21.6% (12.8–32.1) profound hearing loss was 39.8% (28.7–51.5), vertigo/imbalance was 42.0% (33.8–50.5), tinnitus was 61.8% (53.4–69.8) and facial nerve palsy was 30.6% (23.2–38.9). Generally, symptoms were homogeneous or moderately heterogeneous among included studies.
Conclusion
This is the first systematic review of clinical presentations at ELST diagnosis. The most serious clinical events include profound hearing loss and facial impairment. Fluctuating hearing loss, tinnitus and vertigo are frequently reported and may confound correct and prompt ELST diagnosis.
... 9 Lindau's disease was defined as association of cerebellar hemangioblastoma with one of the following: retinal hemangioblastoma, pancreatic cyst, renal, or epididymal abnormalities. The definition for clinical diagnosis was later refined by Lamiell et al. and Lonser et al. 5,28 32,33 25% 24 mural nodule on unenhanced image. Spinal HB is visualized on CT an avidly enhancing mass, flow voids may be seen, and cyst may be seen in 50-100% of cases. ...
... Endolymphatic sac tumor is a benign tumor of vestibular aqueduct seen in 3-16% of VHL patients. 5,32,33 They usually present during the second to third decade of life but can involve any age-group. Bilateral involvement is seen in 30% of the patients. ...
... Patients with these tumors may present with either partial or complete hearing loss, tinnitus, vertigo or facial paresis. 32,45 ...
... 11 Others have postulated that involvement of the endolymphatic sac may block resorption of endolymph, trigger inflammation in response to intratumoral microhemorrhage, or lead to excess fluid production by the tumor itself. 18 Figure 3 provides a histological example of endolymphatic hydrops observed in the presence of a petrous meningioma. While the tumor was overlying the posterior petrous region, it is unclear whether the meningioma directly led to endolymphatic hydrops as the extraosseous portion of the endolymphatic sac appeared unremarkable without evidence of tumor invasion. ...
Objective:
Ménière's disease is an inner ear disorder classically characterized by fluctuating hearing loss, tinnitus, and aural fullness accompanied by episodic vertigo. While the pathogenesis of Ménière's remains under debate, histopathological analyses implicate endolymphatic sac dysfunction with inner ear fluid homeostatic dysregulation. Little is known about whether external impingement of the endolymphatic sac by tumors may present with Ménière's-like symptoms. The authors present a case series of 7 patients with posterior fossa meningiomas that involved the endolymphatic sac and new onset of Ménière's-like symptoms and review the literature on this rare clinical entity.
Methods:
A retrospective review of patients undergoing resection of a posterior petrous meningioma was performed at the authors' institution. Inclusion criteria were age older than 18 years; patients presenting with Ménière's-like symptoms, including episodic vertigo, aural fullness, tinnitus, and/or hearing loss; and tumor location overlying the endolymphatic sac.
Results:
There were 7 cases of posterior petrous face meningiomas involving the vestibular aperture presenting with Ménière's-like symptoms. Imaging and intraoperative examination confirmed no cranial nerve VIII compression or labyrinthine artery involvement accounting for audiovestibular symptoms. Of the 7 patients in the series, 6 experienced significant improvement or resolution of their vertigo, and all 7 had improvement or resolution of their tinnitus after resection. Of the 5 patients who had preoperative hearing loss, 2 experienced improvement or resolution of their ipsilateral preoperative hearing deficit, whereas the other 3 had unchanged hearing loss compared to preoperative evaluation.
Conclusions:
Petrous face meningiomas overlying the endolymphatic sac can present with a Ménière's syndrome. Early recognition and microsurgical excision of these tumors is critical for resolution of most symptoms and stabilization of hearing loss.
... Vestibular symptoms can present with either acute-onset symptoms due to intralabyrinthine hemorrhage, often followed by central compensation; or more insidious-onset symptoms in keeping with slowly developing endolymphatic sac tumors without otic capsule invasion. 11 Vestibular symptoms may coincide with periods of most active hearing loss. 5,9 Similar to auditory symptoms, tumor size was found to be unrelated to vestibulopathy. ...
... MRI confirmed an ELST with extension into the interior vestibule/semicircular canals. The second case was an adult with vestibular symptoms but normal electronystagmography/ calorics /Romberg test without invasion of the semicircular canals (11). (14)Newer objective measurements of vestibular function in children have not been extensively studied. ...
Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disorder. It is caused by a mutation in the tumor suppressor gene localized at 3p25-26. Endolymphatic sac tumors (ELSTs) are rare low-grade adenocarcinomas which can occur sporadically but are more commonly found in association with VHL disease. In this paper, we present 3 siblings who underwent comprehensive vestibular assessment following a genetic diagnosis of VHL, and review the literature on audiovestibular findings in VHL/ELST in children. This is the first time that newer objective vestibular function tests like the video head impulse test (vHIT), the suppression head impulse test (SHIMP), and the cervical vestibular evoked myogenic potential test (cVEMP) have been performed in children with VHL to yield meaningful information about vestibular function. Monitoring audiological function has been suggested for early detection of ELSTs. It remains to be seen whether monitoring of vestibular function in patients with VHL from an earlier age may yield valuable information about progression of the disease.
... Outside of the CNS, VHL disease presents with tumors of the pacreas, kidneys, adrenals, and Diagnostics 2021, 11, 1005 2 of 8 reproductive organs. Therefore, it is essential that radiologists be familiar with their imaging appearance [1][2][3]. ...
... VHL disease presents with tumors of the pacreas, kidneys, adrenals, and reproductive organs. Therefore, it is essential that radiologists be familiar with their imaging appearance [1][2][3]. ...
... After Gadolinium injection, the mass becomes relatively more homogeneous with blunt peripheral rim enhancement. HMG appears as cystic mass (2) in the cerebellar hemisphere, showing isolated and peripheral enhancing mural nodule (3). (e,f): Axial and coronal computerized tomography (CT) scans show bone destruction of the temporal pyramid, more evident while comparing healthy contralateral. ...
Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.
... All patients in this study presented with sensorineural hearing loss, which is similar to previous reports showing that hearing loss is the most common symptom in ELST patients [13]. Previous studies revealed three distinct mechanisms underlying hearing loss in patients with ELSTs: tumor invasion of the otic capsule or endolymphatic hydrops have been suggested as causes of progressive sensorineural hearing loss, while ELST-associated sudden hearing loss may be attributed to inflammation and neural degeneration caused by intralabyrinthine hemorrhage [14][15][16][17]. In this study, isolated intralabyrinthine high-intensity signals were identified in three patients without evidence of otic capsule invasion on T1-weighted MRI. ...
PurposeEndolymphatic sac tumors (ELSTs) are rare, low-grade adenocarcinomas arising from the endolymphatic sac. This study aims to present a novel grading system for ELSTs to determine the optimal management strategy.Methods
We performed a retrospective analysis of 16 patients with 17 ELSTs. The tumor location and involved adjacent neurovascular structures on CT and MRI were selected to establish the grading system.ResultsBased on the novel grading system, grade III a tumors were most common (7/17), followed by grade I (4/17), grade II (3/17), and grade III b (3/17) tumors. Eight advanced ELSTs (grade III a and III b) received an infra-temporal fossa approach, while the other 6 early stage ELSTs (grade I and II) underwent either a retrolabyrinthine approach with posterior petrosectomy or a translabyrinthine approach combined with subtotal temporal bone resection. Hearing preservation was achieved in 2 grade I patients. Postoperative facial nerve function was HB II in 1 grade III a patient who underwent anterior facial nerve transposition and was HB III in 4 advanced patients who received facial nerve grafts with the great auricular nerve or facial-hypoglossal nerve anastomosis. The mean follow-up time was 35.1 months. Two grade III patients and 1 grade II patient had tumor recurrence during follow-up, among whom 1 grade III b patient had two cases of recurrence.ConclusionA correct initial diagnosis was established in all patients after meticulous imaging studies. Surgical resection is still the first choice to manage patients with ELSTs. The novel grading system enables surgeons to select tailored surgical approaches. Long-term follow-up is necessary following surgical intervention.
... The diagnosis of Meniere's disease is based on 3 symptoms, tinnitus, loss of hearing, and vertigo; however, an endolymphatic sac tumor should be suspected if an unexplained low-tone air-bone gap is found. 14,15 If the tumor is found to be malignant on histopathology, direct invasion into the inner ear causes obvious sensorineural hearing loss. ...
It has been revealed that the pure-tone audiometry demonstrates large air-bone gaps at low pitches due to the presence of inner ear fistulae. When a third mobile window resulting from an inner ear fistula is present, in addition to the 2 normally present windows consisting of the oval window and the round window, a portion of the air-conducted waves escape from the scala vestibuli through the inner ear fistula. On the other hand, bone-conducted waves traveling to the scala vestibuli are reduced by an inner ear fistula; however, bone-conducted waves traveling to the scala tympani are not affected by an inner ear fistula. This results in a larger gap than usual in compliance between both perilymphatic spaces and leads to a decrease in the bone conduction threshold.
This phenomenon, so-called the third mobile window effects, sometimes may lead otology/neuro-otology surgeons to misunderstand the reason why large air-bone gaps still exist after ossicular reconstruction in tympanoplasty. This review article gives good examples regarding the third mobile window effects in otology/neuro-otology diseases and surgeries.
... [6][7][8][9] ELSTs cause hearing loss through three mechanisms, including direct erosion of the otic capsule, intralabyrinthine hemorrhage, and/or endolymphatic hydrops. 10 Surgical resection is the treatment of choice and is effective for tumor control, amelioration of audiovestibular findings, and stabilization/prevention of hearing loss. 11,12 Resection of small VHL-associated ELSTs is frequently associated with hearing preservation (stable in 90% of patients) and rarely improvement (10%). ...
... 11,12 Resection of small VHL-associated ELSTs is frequently associated with hearing preservation (stable in 90% of patients) and rarely improvement (10%). 10 The inability of surgical treatment to reverse hearing loss highlights the critical need for ELST screening and early diagnosis in VHL patients. Early ELST detection permits early surgical resection, which may prevent hearing loss and/or reduce additional audiovestibular morbidity. ...
... 6-9 MRI can be used to identify an ELST and/or its correlates in three ways: (1) enhancement of the lesion (postcontrast T1-weighted imaging), (2) intralabyrinthine hemorrhage (hyperintensity on precontrast T1-weighted imaging), or (3) endolymphatic hydrops (using contrastenhanced delayed fluid-attenuated inversion recovery [FLAIR] MRI). 10,20 The finding of a contrast-enhancing lesion in the posterior temporal bone is particularly specific for ELST, although its sensitivity is unknown (►Table 4). Lesions as small as 2 mm have been identified by MRI. ...
Objective Endolymphatic sac tumors (ELSTs) are a frequent cause of hearing loss and other audiovestibular dysfunction in patients with von Hippel-Lindau disease (VHL). Unified screening recommendations for VHL patients have not been established. To develop consensus guidelines, the VHL Alliance formed an expert committee to define evidence-based clinical screening recommendations.
Patients and Methods Recommendations were formulated by using the Grading of Recommendations, Assessment, Development, and Evaluation framework after a comprehensive literature review.
Results Diagnosis of ELSTs in VHL requires a combination of clinical evaluation and imaging and audiometric findings. Audiovestibular signs/symptoms are often an early feature of small ELSTs, including those that are not visible on imaging. Diagnostic audiograms have the greatest sensitivity for the detection of ELST-associated sensorineural hearing loss and can help confirm clinically relevant lesions, including those that may not be radiographically evident. Magnetic resonance imaging (MRI) can be a more specific test for ELSTs in VHL particularly when supplemented with computed tomography imaging for the identification of small tumors. VHL patients between the ages 10 and 60 years carry high preponderance for ELST presentation.
Conclusion We recommend that clinical evaluation (yearly) and diagnostic audiograms (every other year) be the primary screening tools for ELSTs in VHL. We suggest that screening be performed between the ages 11 and 65 years or with the onset of audiovestibular signs/symptoms for synchronicity with other testing regimens in VHL. We recommend that baseline imaging (MRI of the internal auditory canals) can be performed between the ages of 15 and 20 years or after positive screening.
... 75 Tumor-associated intralabyrinthine hemorrhage may lead to acute hearing loss and vestibulopathy due to endolymphatic hydrops. 76 All patients with endolymphatic sac tumors (ELSTs) should undergo diagnostic testing for VHL mutations since endolymphatic sac tumors can be the first manifestation of VHL disease. ...
Understanding of molecular mechanisms of tumor growth has an increasing impact on the development of diagnostics and targeted therapy of human neoplasia. In this review, we summarize the current knowledge on molecular mechanisms and their clinical implications in von Hippel-Lindau (VHL) disease. This autosomal dominant tumor syndrome usually manifests in young adulthood and predisposes affected patients to the development of benign and malignant tumors of different organ systems mainly including the nervous system and internal organs. A consequent screening and timely preventive treatment of lesions are crucial for patients affected by VHL disease. Surgical indications and treatment have been evaluated and optimized over many years. In the last decade, pharmacological therapies have been evolving, but are largely still at an experimental stage. Effective pharmacological therapy as well as detection of biomarkers is based on the understanding of the molecular basis of disease. The molecular basis of von Hippel-Lindau disease is the loss of function of the VHL protein and subsequent accumulation of hypoxia-inducible factor with downstream effects on cellular metabolism and differentiation. Organs affected by VHL disease may develop frank tumors. More characteristically, however, they reveal multiple separate microscopic foci of neoplastic cell proliferation. The exact mechanisms of tumorigenesis in VHL disease are, however, still not entirely understood and knowledge on biomarkers and targeted therapy is scarce.
