Endolymphatic sac tumour - a rare complication associated with von Hippel-Lindau disease.

We report the case of a 42-year - old female with familiar form von Hippel-Lindau disease (VHL) and recurrent endolymphatic sac tumour (ELST), which was presented like non-homogenous, solid and cystic expansion of the left petrous temporal bone. Histologically, there was found lamellae of bone with adjacent ligament and with papillary projections with fibrovascular core. The papillae were lined by a single layer of cuboidal epithelium with hyperchromatic and lightly pleomorphic nuclei. Sporadically, small cystic formations with eosinophilic, PAS positive secretion were noted. Imunohistochemically, the cuboidal cells showed diffuse positivity for vimentin, epithelial membrane antigen (EMA), cytokeratin AE1/AE3 and S100 protein (weakly). Other markers examined, including TTF1, PAX8 and CD10, were negative. Endolymphatic sac tumour is rare low-grade malignant epithelial tumour arising from the endolymphatic sac in the temporal bone, which occurs in 1 out of 30 000 births, with just fewer than 300 cases reported in the literature. About one third of cases are associated with von Hippel- Lindau disease, an autosomal dominant familial cancer syndrome.

A carcinoid tumor of the middle ear masquerading as a glomus tympanicum presenting with temporal lobe hemorrhage in a 70-year-old woman: Case report and review of the literature.

BACKGROUND: Paragangliomas in the central nervous system account for 0.6% of all head and neck neoplasms, with glomus tympanicum being the most common middle ear tumor. Carcinoid tumors are neuroendocrine tumors, representing less than 1% of neuroendocrine neoplasms in the middle ear. Misdiagnoses have been reported in the literature regarding glomus and carcinoid tumors, however, none have been in the central nervous system or middle ear. CASE DESCRIPTION: A 70-year-old female with a history of left temporal lobe tumor underwent unsuccessful resection due to intraoperative bleeding at an outside institution. However, biopsy prior to aborting the case led to the diagnosis of paraganglioma. Eight years postoperatively, the patient presented at our institution with acute confusion, aphasia, and altered mental status. Imaging revealed a 4cm left temporal intraparenchymal hematoma at the known tumor site with concern for intracranial tumor extension. Surgical resection was performed and previous symptoms resolved. Final pathology revealed a Grade II atypical carcinoid tumor with an unusually high Ki-67 of 50%. CONCLUSIONS: Carcinoid tumors of the middle ear constitute a differential diagnosis for patients presenting with temporal lobe hemorrhage. A combination of immunohistochemical staining with electron microscopy can assist in differentiating the tumor types. This atypical presentation for a carcinoid tumor in the middle ear suggests the need to consider carcinoid as the diagnosis in patients with a middle ear tumor invading into the temporal lobe and causing hemorrhage. These tumors may demonstrate an unusually high Ki-67 rate, in which case they should be treated aggressively.

Symptoms and clinical features in patients affected by endolymphatic sac tumor: a systematic review and meta-analysis.

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.

Causes of Middle Ear Aural Polyps in Adult Patients from Kut and Diwaniyah Cities in Iraq.

BACKGROUND: Aural polyps consider as one of the most notable progressive lesions of middle ear. Chronic otitis media can result in development of aural polyps that ascends from the tympanic cavity outwards to the external auditory canal, leading to tympanic membrane perforation and hearing loss. Morbidity and mortality are usually rare, however, failure of diagnosis or prolonged negligence by the patient could increase the likelihood of cholesteatoma or malignant squamous carcinoma. AIM: To investigate the causes of middle ear aural polyps in adult patients selected from Kut and Diwaniyah cities in Iraq. METHODOLOGY: 40 patients which of those 14 males and 26 females were included in this study based upon the clinical manifestation of the illness and the suffering from a mass in the tympanic cavity, partial or complete hearing loss, otorrhea and dizziness. Otoscope was used to confirm location, shape, size of the polyps, and the status of the tympanic membrane. RESULTS: The mean age of the involved patients in the study was (44.65 ± 10.9) years. Age range was between (20-60) years. The highest frequency of patients with aural polyps was seen in patients at their third to fifth decade of age. There were 14(35%) men, and 26(65%) women. Findings showed that mean age of men was (44.07 ± 13.7) years, and women was (44.96 ± 9.4) years, (p=0.405). Clinical examination revealed 27(67.5%) patients with cholesteatoma, 10(25%) with inflamed mass in the middle ear, and 3(7.5%) were with cancerous tumor. Correlative analysis showed no significant correlation between age and causes of aural polyps (p=0.664), and no correlation between sex and causes of aural polyps (p=0.524). CONCLUSION: Aural polyps are rare disease in Iraqi patients. However, treating and monitoring patients with ongoing chronic otitis media is essential in preventing the development of aural masses in middle ear and other complications if left untreated. Early diagnosis and treatment can prevent reoccurrence and other complications.

Middle ear adenoma with facial palsy: A case report and a review of the literature.

A 52-year-old man presented to our emergency department with an acute onset of right-sided facial nerve (FN) palsy of House-Brackmann grade V. Electroneurography (ENoG) was conducted with no response at the right FN, as compared with the left FN (0%). We performed a biopsy of the right middle ear mass and histological studies showed the tumor to be neuroendocrine tumors (NET) of the middle ear. We resected the tumor with canal wall down mastoidectomy and reconstructed the posterior meatal wall with soft tissue. Three months after surgery, the FN paralysis had improved with House-Brackmann grade II. We reviewed cases of NET with FN palsy, and nine patients, including our case, have been reported. Our case is the first report of ENoG for the description of FN palsy due to NET. Although the ENoG value was 0%, it was remarkably improved by surgery. The other cases of NET patients with FN palsy also recovered FN function after surgery. These results suggest that it is recommended to perform the total resection of the tumor to improve the FN function.

Radiotherapy for a rare phosphaturic mesenchymal tumor in the middle ear presenting with oncogenic osteomalacia: A case report.

RATIONALE: Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm causing oncogenic osteomalacia. Surgery remains the definitive treatment for PMT, and radiotherapy is seldom employed. However, surgery for PMT involving the head and neck is often difficult due to the local invasion and complicated anatomy. We report the first case of PMT, which was successfully treated with the combination of radiotherapy and supplementation of activated vitamin D. PATIENT CONCERNS: A 55-year-old woman suffered from pain in the hip and bilateral femur. Serum phosphate and calcium decreased to abnormal levels. Serum alkaline phosphatase and fibroblast growth factor 23 increased to abnormal levels. The hearing loss of the right ear had continued and a middle ear tumor was revealed. DIAGNOSES: Subsequent biopsy provided the diagnosis of PMT that caused oncogenic osteomalacia. These clinical and pathological characteristics were consistent with and provided the final diagnosis of benign PMT. INTERVENTIONS: Surgery of the PMT was difficult and the patient underwent radiotherapy. The prescribed dose was 36 Gy in 10 fractions. Simultaneously, the patient started supplementation of 1,25-dihydroxyvitamin D3 (1-2 µg/day) and continued for 2 years. OUTCOMES: Near-complete resolution of the symptoms was achieved and abnormal laboratory values recovered. At 5 years of follow-up, the irradiated tumor showed no regrowth. Severe hearing loss of the right ear was not observed. LESSONS: Radiotherapy was effective for the PMT and could be an important treatment option for inoperable cases.

A Case Report of a CPA Meningioma Presenting as Middle Ear Mass With Middle Ear Effusion.

Middle ear (ME) benign tumors are rare, and among them is meningioma. An ME meningioma might be isolated or merely a lateral extension of a CPA meningioma. We report a case with presentation of ME effusion followed by the appearance of an aural polyp after repeated myringotomies. Computed tomography (CT) revealed a benign-looking ME and mastoid mass. After debulking and biopsy, it turned out to be a meningioma. However, when MRI was performed, a large CPA meningioma was detected. ME masses are rare; however, they might be encountered, and CT must be performed followed by biopsy or total removal. In case of detection of a tumor with probable intracranial connection as meningioma, an MRI should be performed to exclude intracranial extension.

Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.

AIMS: Although inactivation of the von Hippel-Lindau gene (VHL) on chromosome 3p25 is considered to be the major cause of hereditary endolymphatic sac tumours (ELSTs), the genetic background of sporadic ELST is largely unknown. The aim of this study was to determine the prevalence of VHL mutations in sporadic ELSTs and compare their characteristics to VHL-disease-related tumours. METHODS: Genetic and epigenetic alterations were compared between 11 sporadic and 11 VHL-disease-related ELSTs by targeted sequencing and DNA methylation analysis. RESULTS: VHL mutations and small deletions detected by targeted deep sequencing were identified in 9/11 sporadic ELSTs (82%). No other cancer-related genetic pathway was altered except for TERT promoter mutations in two sporadic ELST and one VHL-disease-related ELST (15%). Loss of heterozygosity of chromosome 3 was found in 6/10 (60%) VHL-disease-related and 10/11 (91%) sporadic ELSTs resulting in biallelic VHL inactivation in 8/10 (73%) sporadic ELSTs. DNA methylation profiling did not reveal differences between sporadic and VHL-disease-related ELSTs but reliably distinguished ELST from morphological mimics of the cerebellopontine angle. VHL patients were significantly younger at disease onset compared to sporadic ELSTs (29 vs. 52 years, p < 0.0001, Fisher's exact test). VHL-disease status was not associated with an increased risk of recurrence, but the presence of clear cells was found to be associated with shorter progression-free survival (p = 0.0002, log-rank test). CONCLUSION: Biallelic inactivation of VHL is the main mechanism underlying ELSTs, but unknown mechanisms beyond VHL may rarely be involved in the pathogenesis of sporadic ELSTs.

Degree of preoperative hearing loss predicts time to early mobilization following vestibular schwannoma microsurgery.

OBJECTIVE: To test the hypothesis that severe to profound preoperative hearing loss predicts less acute postoperative vestibulopathy following microsurgical removal of vestibular schwannoma (VS) allowing for earlier postoperative mobilization and hospital discharge. METHODS: Patients with VS who underwent microsurgery and were found to have preoperative severe to profound hearing loss (pure tone average [PTA] > 70 dB HL) were matched 1:1 by age and tumor size to a group of randomly selected controls with preoperative serviceable hearing. RESULTS: A total of 57 patients met inclusion criteria and were matched to controls. Median age at the time of microsurgery was 56 years. The median PTA and WRS for cases were 91 dB HL (interquartile range [IQR] 78-120) and 0% (IQR 0-0), respectively. Median tumor size was 14.2 mm (IQR 10.9-20.9). A total of 35 (61%) patients exhibited nystagmus after surgery associated with acute vestibular deafferentation. Median time to ambulation in the hallway was 2 days. Controls exhibited similar tumor size (12.7 mm, p = 0.11) and age (57 years, p = 0.52). Preoperative hearing loss did not predict severity or duration of postoperative nystagmus or days to discharge; however, those with Class D hearing exhibited a shorter time to ambulation (p = 0.04). CONCLUSION: Following microsurgical removal of VS, preoperative profound hearing loss was associated with a shorter time to postoperative mobilization; however, there were no observed associations with duration or severity of nystagmus and time to hospital discharge. Although not a predictor of nystagmus, preoperative profound hearing loss may portend quicker recovery from clinically significant postoperative vestibulopathy.

Management of vestibular dysfunction and hearing loss in intralabyrinthine schwannomas.

PURPOSE: Intralabyrinthine schwannomas (ILS) are rare, benign, slow-growing tumors arising from schwann cells of the cochlear or vestibular nerves within the bony labyrinth. This study provides insight into the management of this rare tumor through a large case series. MATERIALS AND METHODS: After Institutional Review Board approval, a retrospective chart review was performed of all ILS patients treated at our institution between 2007 and 2019. RESULTS: 20 patients (9 male, 11 female) with ILS were managed at our institution. The right ear was affected in 9 patients (45%) and the left in 11 (55%). Subjective hearing loss was endorsed by all 20 patients. Average pure tone average at presentation was 72 dB nHL. Nine tumors (45%) were intravestibular, 6 (30%) were intracochlear, 4 (20%) were transmodiolar and 1 (5%) was intravestibulocochlear. Hearings aids were used in 3 patients (15%), BiCROS in 2 (10%), CI in 2 (10%), and bone conduction implant in 1 (5%). Vestibular rehabilitation was pursued in 5 patients. Surgical excision was performed for one patient (5%) via translabyrinthine approach due to intractable vertigo. No patients received radiotherapy or intratympanic gentamicin injections. CONCLUSION: ILS presents a diagnostic and management challenge given the similarity of symptoms with other disorders and limited treatment options. Hearing loss may be managed on a case-by-case basis according to patient symptoms while vestibular loss may be mitigated with vestibular therapy. Surgical excision may be considered in patients with intractable vertigo, severe hearing loss with concurrent CI placement, or in other case-by-case situations.

Concurrent chemoradiation in locally advanced primary middle ear lymphoepithelial carcinoma: an effective treatment modality case report.

BACKGROUND: Definitive treatment of primary middle ear lymphoepithelial carcinoma (LEC) is not well established owing to the rarity of this disease entity. We report a case of locally advanced primary middle ear LEC treated with concurrent chemoradiation, with good oncologic outcomes. CASE PRESENTATION: A 46 year-old female of Cantonese (Southern Chinese) descent presented with a four-month history of left sided hearing loss and non-pulsatile tinnitus, associated with progressive ipsilateral facial weakness. She had a left facial palsy (House-Brackmann 2) which then deteriorated to complete palsy over 2 weeks. Otoscopic examination of the left ear revealed a red-hued mass replacing the tympanic membrane. There was no cervical lymphadenopathy. Fibreoptic nasoendoscopy was unremarkable. Pure tone audiometry revealed profound mixed left hearing loss with type B impedance. Computed tomography of the temporal bone showed an ill-defined left middle ear mass with erosion of the malleus, tegmen tympani and facial canal. Magnetic Resonance Imaging showed an avidly enhancing lesion involving the dura of the left middle cranial fossa, tympanic and labyrinthine portions of the facial nerve. This mass extended into the apex of the left internal acoustic canal and basal turn of the cochlea. Histopathology confirmed EBV-positive primary middle ear LEC. Concurrent chemoradiation comprising 70Gy of intensity-modulated radiation therapy and 3 cycles of concurrent Cisplatin based chemotherapy over a 6 week period was administered. The patient achieved near-complete disease resolution on 3 month post-treatment imaging. Serum EBV DNA titres declined to undetectable levels and the patient is disease-free at 18 months post-diagnosis. DISCUSSION AND CONCLUSION: Concurrent chemoradiation with curative intent may be a viable treatment option for locally advanced middle ear LEC not amenable to surgical resection due to expected surgical morbidity. It confers good oncologic outcomes that mimic the response in other head and neck EBV-related lymphoepithelial carcinomas.

Malignant Mucosal Melanoma of the Eustachian Tube With Extension Into the Ipsilateral External Ear Canal: A Case Report and Review of the Literature.

Mucosal melanoma arising in the middle ear or eustachian tube is uncommon. We present a patient with hearing loss and otalgia found to have mucosal melanoma which occurred in the eustachian tube with extension into the middle ear cavity and external ear canal. Otologic clinics was consulted and biopsy of the mass located at the external canal was performed to ascertain the pathological diagnosis. The patient refused immunotherapy and surgery instead of undergoing radiotherapy and died from hepatic metastasis 8 months later. The mucosal melanoma originated from the eustachian tube with extension into the external ear canal is exceedingly rare, and the differential diagnosis should be considered for tumors in external ear canal.

Case report: rare presentation of primary angiomyolipoma in the middle ear.

BACKGROUND: Angiomyolipoma (AML) is a common, chronic disease usually localized in kidney and liver organs; but occurring frequently outside the kidney or liver. CASE PRESENTATION: We describe an unusual case of a 62-year-old female patient with AML in the middle ear. She presented with left earache, tinnitus and hearing loss. Preoperative computed tomography and magnetic resonance imaging seemed to reveal a middle ear cholesteatoma. The patient underwent surgical resection of this lesion, and the AML was finally confirmed by histopathological examination. The patient was discharged on the 8th postoperative day and did not seek further treatment. CONCLUSIONS: Extraperitoneal AML is rare and accurately identified by histopathology. The recommended management is surgery for AML in the middle ear.

Aural Hematoma Secondary to Hemangiosarcoma in a Domestic Cat-Case Report.

A 7-year-old, white, domestic short hair, female cat was presented with an aural hematoma of the right pinna, which had been partially resected a year previously. A 3 × 4 cm mass, macroscopically similar to an auricular hematoma, was visible on the convex surface and a smaller vascular lesion was present on the ear margin. Cytological examination of the smaller mass was suggestive of hemangiosarcoma, and a diagnosis confirmed by histopathologic and immunohistochemical tests. Complete pinnectomy with a wide margin was performed and during the 3-year follow-up, the cat had no local recurrence or metastasis. We conclude that hemangiosarcoma should be considered as a potential differential diagnosis in white-coated cats with an unusual clinical presentation of aural hematoma.

[Atrial dissociation in a boxer with a carcinoma of the middle ear]. / Atriale Dissoziation bei einem Boxer mit Mittelohrkarzinom.

INTRODUCTION: The case report describes an atrial dissociation in a 9-year-old male boxer diagnosed by ECG and echocardiography. Torticollis, severe neck pain and auscultatory arrhythmia were found during the clinical examination. In addition, a mass was found in the left tympanic bulla and histologically a carcinoma of the middle ear was diagnosed.

INTRODUCTION: La présente étude de cas décrit une dissociation auriculaire chez un boxer mâle de 9 ans diagnostiquée par ECG et échocardiographie. Lors de l'examen clinique on a relevé un port de tête penché, des douleurs cervicales sévères et une arythmie à l'auscultation. De plus, une masse a été trouvée dans la bulle tympanique gauche et un carcinome de l'oreille moyenne a été diagnostiqué histologiquement.

Clinical features and treatment of endolymphatic sac tumor.

Background: Endolymphatic sac tumor (ELST) is an extremely rare disease that does not have established clinical guidelines.Objective: To provide guidance for the diagnosis and management of ELSTs.Methods: We retrospectively reviewed the medical records of patients who were suspected to have a lesion in the location of endolymphatic sac. Seven patients were included. Histopathologic diagnosis confirmed five ELSTs and two other diseases.Results: All of the enrolled patients had hearing impairment. Facial palsy was found in four out of five patients with ELST, whereas none of the patients in other disease group showed facial palsy. CT and MRI findings were consistent with those in previous literatures; however, angiographic findings were not consistent with those previously reported. All patients underwent surgery. Recurrence occurred in two patients with ELST, although there was no visible remnant tumor after the operation. These patients were treated with stereotactic radiosurgery.Conclusion: Hearing impairment and facial palsy were representative symptoms of ELST. All ELSTs showed 'salt and pepper' signal in MRI T1-weighted images, and smaller tumors could have blood supply from AICA in the radiologic study. Complete surgical resection with optional stereotactic radiosurgery should be considered in ELST.HighlightsHearing impairment and facial weakness are remarkable symptoms of ELST compared to other diseases that invade the endolymphatic sac.All ELSTs showed 'salt and pepper' signal in MRI T1-weighted images.ELST less than 3 cm in diameter could have blood supply from AICA.A complete surgical excision with optional stereotactic radiosurgery is required.

Meta-analysis does not support routine traditional nuclear medicine studies for malignant otitis.

OBJECTIVES: The role of traditional nuclear medicine studies in the management of malignant otitis externa (MOE) is unclear and there are ongoing debates regarding their diagnostic value. The authors perform a systematic review and meta-analysis to assess the sensitivity and specificity of traditional nuclear medicine studies in the diagnosis of MOE. METHODS: In accordance with PRISMA guidelines, a query of the Medline, Embase, Web of Science, and Cochrane databases was undertaken. The primary outcomes of interest were the sensitivity and specificity of traditional nuclear medicine studies to detect MOE. RESULTS: Of the initial 1317 hits from the four databases, 20 articles with a combined 608 patients were ultimately included in the review. The pooled sensitivities for Technetium-99 and Gallium-67 were 85.1% (95% CI, 72.0-98.1%) and 71.2% (95% CI, 55.1-87.3%) respectively. The available evidence suggested poor specificity of these modalities, but was insufficient for meta-analysis. Neither modality was shown to be effective in the assessment of disease resolution. CONCLUSION: The sensitivities of Technetium-99 and Gallium-67 to detect MOE are less favorable than was initially thought. Given this finding and their poor specificity, lack of anatomic resolution, unproven ability to detect disease resolution and variable availability, this review does not support the routine use of these studies in the management of MOE. LEVEL OF EVIDENCE: N/A Laryngoscope, 130:1812-1816, 2020.

Rate of Initial Hearing Loss During Early Observation Predicts Time to Non-Serviceable Hearing in Patients With Conservatively Managed Sporadic Vestibular Schwannoma.

OBJECTIVE: To date, prediction models for estimating risk of acquiring non-serviceable hearing in subjects with observed vestibular schwannoma (VS) have evaluated outcomes primarily based on features at initial diagnosis. Herein, we evaluate the association of rate of hearing decline during the initial period of observation with time to non-serviceable hearing. If significant, rate of hearing decline may inform decision making after an introductory period of observation. SETTING: Two tertiary care centers. PATIENTS: VS patients with serviceable hearing who underwent at least three audiograms and two magnetic resonance imaging (MRI) studies before intervention or being lost to follow-up. The rate of change in pure-tone average (PTA) and word recognition score (WRS) was calculated as the score from the second audiogram minus the score from the first audiogram, divided by the duration in months between the two. MAIN OUTCOME MEASURE(S): Serviceable hearing, defined as PTA ≤50 dB HL and WRS ≥50%. RESULTS: Among 266 patients meeting inclusion criteria, 52 developed non-serviceable hearing at last follow-up. Kaplan-Meier estimated rates of maintaining serviceable hearing (95% CI; number still at risk) at 1, 3, 5, 7, and 10 years were 97% (95-100; 206), 78% (72-85; 98), 68% (60-77; 39), 60% (50-73; 17), and 44% (29-67; 2), respectively. In a univariable setting, each 1 dB increase per month in the rate of initial PTA change was associated with a 96% increased likelihood of acquiring non-serviceable hearing (hazard ratio [HR] 1.96; 95% CI 1.44-2.68; p < 0.001). Each 1% increase per month in the rate of initial WRS change was associated with a decreased likelihood of acquiring non-serviceable hearing (hazard ratio [HR] 0.79; 95% confidence interval [CI] 0.66-0.94; p = 0.009). After multivariable adjustment, both rate of PTA change (HR 2.42; 95% CI 1.72-3.41; p < 0.001) and rate of WRS change (HR 0.81; 95% CI 0.67-0.99; p = 0.043) remained statistically significantly associated with time to non-serviceable hearing. CONCLUSION: Rate of early PTA and WRS decline during the initial period of observation are significantly associated with time to development of non-serviceable hearing. This information may facilitate accurate patient counseling and inform decision-making regarding prospective disease management.