Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 2.333
Filter
1.
J Med Case Rep ; 18(1): 466, 2024 Sep 27.
Article in English | MEDLINE | ID: mdl-39334512

ABSTRACT

INTRODUCTION AND IMPORTANCE: Fibroepithelial polyps are rare benign lesions with uncertain origins. They are commonly found in the skin and genitourinary system. Fibroepithelial polyps in the external auditory canal are infrequent. CASE PRESENTATION: We report a 60-year-old Persian woman with an incidentally discovered painless fibroepithelial polyp in the right external auditory canal. Microscopic transcanal surgery confirmed the diagnosis after temporal computed tomography imaging showed a soft tissue mass. CLINICAL DISCUSSION: Fibroepithelial polyps have an uncertain etiology and are typically asymptomatic. Surgical resection is the preferred treatment, and the prognosis following resection is generally favorable, with low recurrence rates. CONCLUSION: This case highlights the rarity of fibroepithelial polyps in the external auditory canal and underscores the importance of considering them in the differential diagnosis of external auditory canal lesions.


Subject(s)
Ear Canal , Polyps , Tomography, X-Ray Computed , Humans , Female , Middle Aged , Ear Canal/pathology , Ear Canal/diagnostic imaging , Ear Canal/surgery , Polyps/pathology , Polyps/surgery , Polyps/diagnostic imaging , Ear Neoplasms/pathology , Ear Neoplasms/surgery , Ear Neoplasms/diagnostic imaging , Ear Neoplasms/diagnosis , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Neoplasms, Fibroepithelial/diagnosis , Diagnosis, Differential , Incidental Findings
2.
Otol Neurotol ; 45(9): 1051-1054, 2024 Oct 01.
Article in English | MEDLINE | ID: mdl-39118256

ABSTRACT

OBJECTIVES: Describe a single institution's cochlear implant outcomes for patients with inner ear schwannomas (IES) in the setting of various tumor management strategies (observation, surgical resection, or stereotactic radiosurgery [SRS]). STUDY DESIGN: Single-institution retrospective review. PATIENTS: Patients diagnosed with isolated, sporadic IES who underwent cochlear implantation (CI). INTERVENTIONS: CI with or without IES treatment. MAIN OUTCOME MEASURES: Speech perception outcomes, tumor status. RESULTS: Twelve patients with IES underwent CI with a median audiologic and radiologic follow-up of 12 months. Six patients underwent complete resection of the tumor at the time of CI, four underwent tumor observation, and two underwent SRS before CI. At 1 year after CI for all patients, the median consonant-nucleus-consonant (CNC) word score was 55% (interquartile range, 44-73%), and the median AzBio sentence in quiet score was 77% (interquartile range, 68-93%). Overall, those with surgical resection performed similarly to those with tumor observation (CNC 58 versus 61%; AzBio in quiet 74 versus 91%, respectively). Patients who underwent tumor resection before implantation had a wider range of speech performance outcomes compared with patients who underwent tumor observation. Two patients had SRS treatment before CI (10 months previous and same-day as CI) with CNC word scores of 6 and 40%, respectively. CONCLUSIONS: Patients with IES who underwent CI demonstrated similar speech performance outcomes (CNC 56% and AzBio 82%), when compared with the general cochlear implant population. Patients who underwent either tumor observation or surgical resection performed well after CI.


Subject(s)
Cochlear Implantation , Speech Perception , Humans , Cochlear Implantation/methods , Male , Female , Middle Aged , Retrospective Studies , Treatment Outcome , Adult , Aged , Speech Perception/physiology , Neurilemmoma/surgery , Neurilemmoma/pathology , Ear, Inner/surgery , Ear, Inner/pathology , Neuroma, Acoustic/surgery , Neuroma, Acoustic/pathology , Radiosurgery/methods , Ear Neoplasms/surgery , Ear Neoplasms/pathology , Cochlear Implants
3.
Vestn Otorinolaringol ; 89(3): 69-76, 2024.
Article in Russian | MEDLINE | ID: mdl-39104276

ABSTRACT

CLINICAL CASE: The 59-year-old patient complained of hearing loss on the left, ear murmur for a long time, periodic pain and discomfort in the left ear, dizziness for 6 months. She was found to have concurrent vestibular schwannoma in the internal auditory canal and temporal bone paraganglioma. Both tumors were removed in one operation. The schwannoma was removed by translabirinth access due to preoperative deafness, while the glomus tumor was removed during this access. Postoperative biopsy showed the presence of two unrelated diseases: paraganglioma (ICD-0 code 8690/3) and schwannoma (ICD-0 code 9560/0).


Subject(s)
Ear, Inner , Ear, Middle , Paraganglioma , Humans , Middle Aged , Female , Ear, Middle/surgery , Ear, Middle/pathology , Ear, Inner/surgery , Paraganglioma/surgery , Paraganglioma/complications , Paraganglioma/diagnosis , Ear Neoplasms/surgery , Ear Neoplasms/complications , Ear Neoplasms/diagnosis , Neoplasms, Multiple Primary/surgery , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/pathology , Neuroma, Acoustic/surgery , Neuroma, Acoustic/complications , Neuroma, Acoustic/diagnosis , Cranial Nerve Neoplasms/surgery , Cranial Nerve Neoplasms/diagnosis , Cranial Nerve Neoplasms/complications , Otologic Surgical Procedures/methods , Temporal Bone/surgery , Temporal Bone/pathology
4.
J Int Adv Otol ; 20(3): 283-287, 2024 May.
Article in English | MEDLINE | ID: mdl-39128097

ABSTRACT

Middle ear neuroendocrine tumors (MeNETs) are an exceptionally rare occurrence. These benign tumors stem from the tympanic mucosa and can easily be misinterpreted by the clinician and the pathologist. Clinical characteristics, otoscopic findings and medical imaging in these cases are non-specific. We present a case of a 60-year-old male patient with bilateral hearing loss following recent coronavirus disease 2019 disease. Diagnostic work-up revealed a soft tissue neoplasm of the left middle ear. Surgical resection of the tumor mass with implantation of a partial ossicular replacement prosthesis (PORP) was the main modality of treatment. Middle ear neuroendocrine tumors was confirmed through positive immunohistochemistry for neuroendocrine tumor markers. Follow-up magnetic resonance imaging 12 months after the surgery reported no tumor recurrence or significant residual disease with a stable PORP. Our report highlights challenges in diagnosing and treating these rare tumors, while emphasizing surgical resection pitfalls and resulting improvement of quality of life of the patient. We recommend a through followup of patients with unclear soft tissue masses in the middle ear to obtain a definitive diagnosis.


Subject(s)
Adenoma , Ear Neoplasms , Ear, Middle , Neuroendocrine Tumors , Humans , Male , Middle Aged , Ear Neoplasms/surgery , Ear Neoplasms/pathology , Ear Neoplasms/diagnosis , Ear Neoplasms/diagnostic imaging , Neuroendocrine Tumors/surgery , Neuroendocrine Tumors/diagnosis , Neuroendocrine Tumors/pathology , Ear, Middle/pathology , Ear, Middle/surgery , Ear, Middle/diagnostic imaging , Adenoma/pathology , Adenoma/surgery , Adenoma/diagnosis , COVID-19/complications , COVID-19/diagnosis , Magnetic Resonance Imaging/methods , Ossicular Replacement/methods
5.
Pathologica ; 116(3): 144-152, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38979587

ABSTRACT

Melanoma of the external auditory canal (EAC) is particularly rare and poorly understood, with limited available data on management and survival. This systematic review aims to analyze existing data and provide insights into the management and prognosis the beginning of EAC melanoma. It is conducted using Pubmed and Scopus databases from the beginning to July 2023 and it follows the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2020 guidelines. Searches are performed using the search string "(melanoma) AND (external auditory canal)".The review includes a total of 30 patients diagnosed with EAC melanoma, supplemented by an additional case from the authors' clinical experience. The role of Breslow thickness as a determining factor for the choice of surgery remains inconclusive due to limited available data. Sentinel lymph node biopsy and adjuvant therapy are sparingly employed, indicating the need for standardized guidelines. Patients in the study demonstrate a 50% overall survival rate at 5 years.EAC Melanoma is a rare and aggressive malignancy with limited therapeutic guidelines. Surgical interventions, including wide local excision and lateral temporal bone resection, are the primary treatment options for patients without distant metastases.


Subject(s)
Ear Canal , Ear Neoplasms , Melanoma , Humans , Ear Canal/pathology , Ear Canal/surgery , Ear Neoplasms/pathology , Ear Neoplasms/surgery , Melanoma/pathology , Melanoma/surgery , Melanoma/diagnosis , Prognosis , Sentinel Lymph Node Biopsy
6.
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med ; 32(Special Issue 1): 562-566, 2024 Jun.
Article in Russian | MEDLINE | ID: mdl-39003701

ABSTRACT

The relevance of the problems of diagnosis and treatment of skin cancer is currently determined not only by the high incidence rate, but by the existing difficulties in differential diagnosis and treatment with traditional methods. For localizations of basal cell skin cancer (BCSC) that are "inconvenient" for treatment, such as the external auditory canal, auricle, and wing of the nose, treatment is associated with certain difficulties and the possible appearance of a cosmetic defect, therefore, when choosing a treatment method, the anatomical features of these organs are taken into account. It has been determined that the effectiveness of treatment for primary BCSC of the nose and auricles is higher than recurrent one, and among the various treatment methods, the most effective and radical is the surgical method. The immediate results of treatment of BCSC in the form of PR by surgical method were 86.7%, which is statistically significant compared with other types of treatment (p < 0.05). Long-term treatment results with the surgical method are also higher (77%) compared to other methods, which is also statistically significant (p < 0.05).


Subject(s)
Carcinoma, Basal Cell , Nose Neoplasms , Skin Neoplasms , Humans , Carcinoma, Basal Cell/surgery , Carcinoma, Basal Cell/therapy , Carcinoma, Basal Cell/diagnosis , Carcinoma, Basal Cell/pathology , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Skin Neoplasms/therapy , Nose Neoplasms/surgery , Nose Neoplasms/diagnosis , Nose Neoplasms/therapy , Middle Aged , Treatment Outcome , Aged , Male , Female , Ear Neoplasms/surgery , Ear Neoplasms/therapy , Ear Neoplasms/diagnosis , Adult , Aged, 80 and over
7.
Sci Prog ; 107(3): 368504241263524, 2024.
Article in English | MEDLINE | ID: mdl-39043202

ABSTRACT

The resection of middle ear paragangliomas can be challenging given their vascular nature and the small volume of the tympanic cavity, particularly when the tumor in the hypotympanum is close or attached to the internal carotid artery (ICA). We performed combined underwater endoscopic and microscopic surgery for a Class B1 middle ear paraganglioma according to the modified Fisch classification. The suspicious bone in the hypotympanum and around the petrous ICA was drilled with underwater endoscopy. The feeding arteries, the caroticotympanic and inferior tympanic arteries, were suctioned and cauterized under microscopy. To the best of our knowledge, no case of middle ear paraganglioma treated with underwater endoscopy has been reported. Underwater endoscopy, providing a clear operative field with blood and bone dust irrigation, is a good indication for middle ear paragangliomas. In contrast, microscopic preparation for unexpected bleeding is important, particularly when the tumor closely extends to vital structures, such as the ICA or the jugular bulb.


Subject(s)
Ear Neoplasms , Ear, Middle , Endoscopy , Paraganglioma , Humans , Endoscopy/methods , Ear, Middle/surgery , Ear, Middle/pathology , Paraganglioma/surgery , Paraganglioma/pathology , Paraganglioma/diagnostic imaging , Ear Neoplasms/surgery , Ear Neoplasms/pathology , Microsurgery/methods , Female , Middle Aged , Male
8.
Cutis ; 113(5): 216-217, 2024 May.
Article in English | MEDLINE | ID: mdl-39042118

ABSTRACT

Basal cell carcinoma (BCC) of the ear may have aggressive histologic subtypes and a greater propensity for subclinical spread than BCC in other anatomic locations. In this retrospective analysis, we evaluated recurrence rates of BCC of the ear in 102 patients who underwent treatment with Mohs micrographic surgery (MMS) or radiation therapy (RT) at a single institution between January 2017 and December 2019. Data on patient demographics, tumor characteristics, treatment modality, and recurrence rates were collected from medical records. Recurrence rates were assessed over a mean follow-up time of 2.8 years. Although MMS is the gold standard for treatment of BCC of the ear, RT may be a suitable alternative for nonsurgical candidates.


Subject(s)
Carcinoma, Basal Cell , Ear Neoplasms , Mohs Surgery , Neoplasm Recurrence, Local , Skin Neoplasms , Humans , Carcinoma, Basal Cell/surgery , Carcinoma, Basal Cell/pathology , Carcinoma, Basal Cell/radiotherapy , Male , Female , Retrospective Studies , Neoplasm Recurrence, Local/epidemiology , Skin Neoplasms/surgery , Skin Neoplasms/pathology , Skin Neoplasms/radiotherapy , Aged , Middle Aged , Ear Neoplasms/radiotherapy , Ear Neoplasms/surgery , Ear Neoplasms/pathology , Aged, 80 and over , Adult
10.
J Craniofac Surg ; 35(5): 1541-1544, 2024.
Article in English | MEDLINE | ID: mdl-38856234

ABSTRACT

BACKGROUND: The posterior auricular flap has long been favored for repairing skin defects on the ear's surface. However, achieving optimal esthetic outcomes in ear reconstruction requires a flexible approach to flap transfer methods. While bipedicle advancement flaps are commonly used for body wound coverage, they are rarely used in auricular defect repair. OBJECTIVE: To propose a modified flap transfer approach based on the orientation of the auricular defect's long axis and assess the postoperative esthetic outcomes. METHODS: The authors reported 12 patients treated using 2 distinct flap transfer techniques. Mild to moderate helix soft tissue defects remained after excision of the masses. A direct island flap was created for patients with longitudinal defects to cover the defect. For patients with transverse defects, a combination of bipedicle and island flaps was used for repair. Scar quality and esthetic outcomes were assessed at least 6 months postsurgery using the Scar Cosmesis Assessment and Rating scale. RESULTS: All patients experienced no serious complications and achieved excellent cosmetic results. Patients undergoing combined flap transfer exhibited relatively more favorable esthetic outcomes. CONCLUSION: The authors propose a novel concept for repairing helix soft tissue defects by designing local flaps based on the direction of the defect's long axis. For repairing helix soft tissue defects with a long axis parallel to the auricular edge, the combined utilization of bipedicle advancement flap and island rotation flap transfer should be consideration more.


Subject(s)
Esthetics , Plastic Surgery Procedures , Surgical Flaps , Humans , Male , Female , Middle Aged , Plastic Surgery Procedures/methods , Adult , Treatment Outcome , Aged , Ear Neoplasms/surgery , Ear, External/surgery , Ear Auricle/surgery , Cicatrix/surgery
11.
Arch Dermatol Res ; 316(6): 320, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38822894

ABSTRACT

Cutaneous malignancies affecting the ear, exacerbated by extensive ultraviolet (UV) exposure, pose intricate challenges owing to the organ's complex anatomy. This article investigates how the anatomy contributes to late-stage diagnoses and ensuing complexities in surgical interventions. Mohs Micrographic Surgery (MMS), acknowledged as the gold standard for treating most cutaneous malignancies of the ear, ensures superior margin control and cure rates. However, the ear's intricacy necessitates careful consideration of tissue availability and aesthetic outcomes. The manuscript explores new technologies like Reflectance Confocal Microscopy (RCM), Optical Coherence Tomography (OCT), High-Frequency, High-Resolution Ultrasound (HFHRUS), and Raman spectroscopy (RS). These technologies hold the promise of enhancing diagnostic accuracy and providing real-time visualization of excised tissue, thereby improving tumor margin assessments. Dermoscopy continues to be a valuable non-invasive tool for identifying malignant lesions. Staining methods in Mohs surgery are discussed, emphasizing hematoxylin and eosin (H&E) as the gold standard for evaluating tumor margins. Toluidine blue is explored for potential applications in assessing basal cell carcinomas (BCC), and immunohistochemical staining is considered for detecting proteins associated with specific malignancies. As MMS and imaging technologies advance, a thorough evaluation of their practicality, cost-effectiveness, and benefits becomes essential for enhancing surgical outcomes and patient care. The potential synergy of artificial intelligence with these innovations holds promise in revolutionizing tumor detection and improving the efficacy of cutaneous malignancy treatments.


Subject(s)
Carcinoma, Basal Cell , Ear Neoplasms , Mohs Surgery , Skin Neoplasms , Humans , Mohs Surgery/methods , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Ear Neoplasms/surgery , Ear Neoplasms/pathology , Ear Neoplasms/diagnostic imaging , Ear Neoplasms/diagnosis , Carcinoma, Basal Cell/surgery , Carcinoma, Basal Cell/pathology , Carcinoma, Basal Cell/diagnosis , Carcinoma, Basal Cell/diagnostic imaging , Tomography, Optical Coherence/methods , Microscopy, Confocal/methods , Spectrum Analysis, Raman/methods , Dermoscopy/methods , Margins of Excision
12.
Eur Arch Otorhinolaryngol ; 281(10): 5119-5127, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38722318

ABSTRACT

PURPOSE: Temporal bone paraganglioma (TBP) are the most common tumors of the middle ear. They pose a challenge in otologic surgery due to their extensive vascularity and intricate location within the middle ear. This meta-analysis aimed to compare the safety and efficacy of two surgical approaches, microscopic middle ear surgery (MMES) and endoscopic middle ear surgery (EMES), in the resection of TBP. METHODS: Eligible studies published after 1988 were identified through systematic searches of "PubMed", "Scopus" and "Google Scholar". Retrospective studies and randomized/non-randomized control trials reporting on surgical approaches for TBP with a minimum of five adult patients were included. RESULTS: A total of 595 records were initially identified. After removing 229 duplicates, 349 articles were excluded based upon article subject, title and abstract. Following the review of full texts, 13 articles were assessed for eligibility. The pooled analysis included a total of 529 ears, with a complication rate of 7.8% for EMES and 14.2% for MMES. Subgroup differences indicated no significant variation between the two methods (p = 0.2945). CONCLUSION: Both EMES and MMES demonstrated favorable surgical outcomes with low complication rates for TBP resection. These findings suggest that EMES is a safe and effective method for TBP resection and one that is comparable to MMES. Since the risk of bleeding is significant in these tumors, a third-hand technique, endoscopic bipolar cautery or laser-assisted hemostasis should be considered. Conversion to MMES is another option when visibility is critically affected by bleeding.


Subject(s)
Endoscopy , Paraganglioma , Temporal Bone , Humans , Temporal Bone/surgery , Endoscopy/methods , Paraganglioma/surgery , Paraganglioma/pathology , Microsurgery/methods , Skull Neoplasms/surgery , Skull Neoplasms/pathology , Treatment Outcome , Ear Neoplasms/surgery , Ear Neoplasms/pathology , Otologic Surgical Procedures/methods , Otologic Surgical Procedures/adverse effects , Postoperative Complications/epidemiology
14.
Article in Chinese | MEDLINE | ID: mdl-38686477

ABSTRACT

Objective:To explore strategies for preserving facial nerve function during surgeries for rare tumors of the internal auditory canal. Methods:A total of 235 cases of internal auditory canal tumors treated between 2010 and 2023 were included, encompassing vestibular schwannomas, cavernous hemangiomas, meningiomas, and other rare tumors. Various data, including clinical presentations, imaging classifications, and treatment processes, were meticulously analyzed to delineate the characteristics of rare tumors and assess pre-and postoperative facial nerve function. Results:Among all internal auditory canal tumors, vestibular schwannomas accounted for 91.9%. In rare tumors, facial nerve schwannomas constituted 5.3%, cavernous hemangiomas 26.3%, meningiomas 15.8%, and arterial aneurysms 10.5%. Significantly, patients with cavernous hemangiomas displayed pronounced invasion of the facial nerve by the tumor, in contrast to other tumor types where clear boundaries with the facial nerve were maintained. During surgery, individualized approaches and strategies for facial nerve protection were implemented for different tumor types, involving intraoperative dissection, tumor excision, and facial nerve reconstruction. Conclusion:Preservation of the facial nerve is crucial in the surgical management of rare tumors of the internal auditory canal. Accurate preoperative diagnosis, appropriate timing of surgery, selective surgical approaches, and meticulous intraoperative techniques can maximize the protection of facial nerve function. Personalized treatment plans and strategies for facial nerve functional reconstruction are anticipated to enhance surgical success rates, reduce the risk of postoperative facial nerve dysfunction, and ultimately improve the quality of life for patients.


Subject(s)
Facial Nerve , Humans , Female , Male , Facial Nerve/surgery , Middle Aged , Adult , Aged , Neuroma, Acoustic/surgery , Meningioma/surgery , Ear, Inner/surgery , Hemangioma, Cavernous/surgery , Ear Neoplasms/surgery , Young Adult , Adolescent , Meningeal Neoplasms/surgery
15.
Eur Arch Otorhinolaryngol ; 281(9): 4657-4664, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38689036

ABSTRACT

OBJECTIVE: To evaluate the feasibility of coblation in excision of glomus tympanicum tumors. PATIENTS AND METHODS: A retrospective study carried out over 28 patients with types I and II glomus tympanicum tumors according to GLASSCOCK-JACKSON classification. Preoperative radiological and endocrinal evaluation were performed. All patients underwent endoscopic transcanal excision of their glomus tympanicum tumors using coblation. RESULTS: None of the patients developed recurrence during the 1-year follow up period proved radiologically. None of the patients developed facial palsy postoperatively. Differences between preoperative and postoperative dizziness and taste disturbance were statistically non-significant. Tinnitus disappeared completely in 22 patients postoperatively. A statistically significant reduction in Tinnitus Handicap Inventory (THI) after surgery was found. Statistically significant reductions in postoperative air conduction (AC) threshold and air bone gap (ABG) were recorded while bone conduction (BC) threshold showed statistically non-significant change. CONCLUSION: Coblation is an effective and safe tool in excision of glomus tympanicum tumors. Further studies comparing coblation with laser and piezosurgery are strongly recommended.


Subject(s)
Endoscopy , Glomus Tympanicum Tumor , Humans , Female , Male , Retrospective Studies , Middle Aged , Adult , Glomus Tympanicum Tumor/surgery , Glomus Tympanicum Tumor/diagnostic imaging , Endoscopy/methods , Aged , Treatment Outcome , Ear Neoplasms/surgery , Ear Neoplasms/diagnostic imaging , Feasibility Studies
18.
Eur Ann Otorhinolaryngol Head Neck Dis ; 141(5): 297-300, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38548561

ABSTRACT

INTRODUCTION: Middle-ear adenoma is a rare benign endocrine tumor with slow progression, and can, in very rare cases, lead to recurrent peripheral facial palsy. CASE REPORT: A young man experienced three episodes of right peripheral facial palsy of incremental intensity, suggestive of barotrauma. CT and MRI found a tissue mass in the tympanic cavity, and biopsy diagnosed middle-ear adenoma. Electroneuromyography found 50% impairment of facial function. Closed right tympanoplasty with complete tumor resection enabled complete recovery of facial function within 1 month. DISCUSSION: Middle-ear adenoma is diagnosed on histology, as imaging on MRI can be non-specific, mimicking chronic otitis. Facial involvement is rare and is due to edematous compression of the vasa nervorum. Treatment is surgical, and follow-up should be prolonged. Palsy assessment on electroneuromyography indicates the urgency of treatment.


Subject(s)
Facial Paralysis , Recurrence , Humans , Male , Facial Paralysis/etiology , Ear Neoplasms/surgery , Adult , Electromyography , Ear, Middle/diagnostic imaging , Ear, Middle/surgery , Magnetic Resonance Imaging , Tympanoplasty/methods
19.
Otol Neurotol ; 45(5): 580-586, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38437842

ABSTRACT

OBJECTIVE: To describe the genetic characteristics and the management of two very rare cases of unilateral multifocal inner ear and internal auditory canal or cerebellopontine angle cochleovestibular schwannomas not being associated to full neurofibromatosis type 2-related schwannomatosis. PATIENTS: In a 29-year-old man and a 55-year-old woman with single-sided deafness multifocal unilateral cochleovestibular schwannomas were surgically resected, and hearing was rehabilitated with a cochlear implant (CI). Unaffected tissue was analyzed using next generation sequencing of the NF2 gene. Tumor tissue was analyzed using a 340-parallel sequencing gene panel. MAIN OUTCOME MEASURES: Mutations in the NF2 gene, word recognition score for monosyllables at 65 dB SPL (WRS 65 ) with CI. RESULTS: No disease-causing mutation was detected in the examined sequences in blood leucokytes. All tumor samples revealed, among others, somatic pathogenic NF2 mutations. While the anatomically separate tumors in case 1 were likely molecular identical, the tumors in case 2 showed different genetic patterns. WRS 65 was 55% at 6 years of follow-up and 60% at 4.5 years of follow-up, respectively. CONCLUSIONS: The occurrence of multifocal unilateral cochleovestibular schwannomas without pathogenic variants in NF2 in non-affected blood leucocytes can be associated with mosaic NF2 -related schwannomatosis (case 1), or with likely sporadic mutations (case 2) and may be overlooked due to their extreme rarity. Although challenging, successful hearing rehabilitation could be achieved through surgical resection of the tumors and cochlear implantation.


Subject(s)
Cerebellopontine Angle , Cochlear Implantation , Neuroma, Acoustic , Humans , Female , Middle Aged , Cochlear Implantation/methods , Male , Adult , Neuroma, Acoustic/surgery , Neuroma, Acoustic/genetics , Neuroma, Acoustic/pathology , Cerebellopontine Angle/surgery , Cerebellopontine Angle/pathology , Ear, Inner/surgery , Ear, Inner/pathology , Neurilemmoma/surgery , Neurilemmoma/genetics , Neurilemmoma/pathology , Mutation , Ear Neoplasms/surgery , Ear Neoplasms/genetics , Ear Neoplasms/pathology , Neurofibromin 2/genetics
SELECTION OF CITATIONS
SEARCH DETAIL