Composite phaeochromocytoma with malignant peripheral nerve sheath tumour: A case report with summary of prior published cases.

Composite phaeochromocytomas (CP) are extremely uncommon adrenal medullary tumours where phaeochromocytoma coexists with another adrenal medullary tumour also of neural crest origin. CP includes combination of phaeochromocytoma along with a component of neuroblastoma, ganglioneuroblastoma, ganglioneuroma, benign nerve sheath tumour or a malignant peripheral nerve sheath tumour (MPNST). Here we describe the morphological and immunohistochemical details of a case of CP with MPNST in a 30 years old lady, without history of neurofibromatosis. Only 6 cases of CP with MPNST have been reported so far. We have tabulated a summary of these prior published cases of phaeochromocytoma with MPNST. To our knowledge, this is the first literature review describing the clinico-pathological characteristics of these rare tumours.

Patient Report of Hearing in Neurofibromatosis Type 2: Recommendations for Clinical Trials.

OBJECTIVE: To systematically evaluate published patient-reported outcome measures for the assessment of hearing function and hearing-related quality of life (QoL) and recommend measures selected by the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration (REiNS) as endpoints for clinical trials in neurofibromatosis type 2 (NF2). METHODS: The REiNS Patient-Reported Outcomes Working Group systematically evaluated published patient-reported outcome measures of (1) hearing function and (2) hearing-related QoL for individuals with hearing loss of various etiologies using previously published REiNS rating procedures. Ten measures of hearing functioning and 11 measures of hearing-related QoL were reviewed. Measures were numerically scored and compared primarily on their participant characteristics (including participant age range and availability of normative data), item content, psychometric properties, and feasibility for use in clinical trials. RESULTS: The Self-Assessment of Communication and the Self-Assessment of Communication-Adolescent were identified as most useful for adult and pediatric populations with NF2, respectively, for the measurement of both hearing function and hearing-related QoL. Measures were selected for their strengths in participant characteristics, item content, psychometric properties, and feasibility for use in clinical trials. CONCLUSIONS: REiNS recommends the Self-Assessment of Communication adult and adolescent forms for the assessment of patient-reported hearing function and hearing-related QoL for NF2 clinical trials. Further work is needed to demonstrate the utility of these measures in evaluating pharmacologic or behavioral interventions.

Cystic Dumbbell-Shaped C1 Schwannoma with Intracranial Extension and Hydrocephalus.

BACKGROUND: Schwannomas at the craniocervical junction commonly originate from the lower cranial nerves or C1 and C2 nerves. To date, very few cases of C1 schwannomas have been described in the literature, and the majority involve either the intra- or the extradural compartment, but not both. To our knowledge, this report documents the first case of a dumbbell-shaped C1 schwannoma that encompassed both intra- and extradural compartments and was accompanied by hydrocephalus. CASE DESCRIPTION: The patient was admitted to our hospital, where magnetic resonance imaging revealed a tumor at the craniocervical junction, extending from the C1 level of the right first cervical vertebra into the cerebellopontine angle with 2 giant cysts. We removed the tumor by performing a midline posterior craniectomy and cervical laminectomy. Intraoperatively, the tumor was found to originate from the right C1 posterior root. The pathological diagnosis was of a schwannoma. The patient was subsequently discharged without any neurologic deficits. CONCLUSIONS: To our knowledge, we present the first case of a dumbbell-shaped C1 schwannoma with intracranial extensions and accompanying hydrocephalus. The tumor had spread inside and outside the dura, but was safely removed. Our findings in this case emphasize that to achieve safe resection, detailed case-specific preoperative consideration is essential.

Functional Outcomes and Temporal Profile of Recovery in Patients with Intradural Extramedullary Spinal Cord Tumors with Poor Nurick Grade.

BACKGROUND: Patients with spinal intradural extramedullary (IDEM) tumors usually have a good functional outcome after tumor excision. However, the literature is sparse on the functional outcome in patients with poor Nurick grade (NG 4 and 5). METHODS: A retrospective review of 81 patients with IDEM tumors presenting with a poor NG was performed to determine postoperative functional outcome and the temporal pattern of recovery. The following risk factors were analyzed: preoperative NG, duration of symptoms, tumor location, peritumoral edema, presence of syrinx, and tumor type. RESULTS: Neurologic function started recovering soon after surgery, with >80% of the patients improving by ≥1 grade at the end of 1 week after surgery. Of the 66 patients available for follow-up of >6 months after surgery, 63 (95.5%) improved to NG 0-2 and 51 (77.2%) became asymptomatic (NG 0 or 1). Three patients had a poor functional outcome on follow-up of >31 months; 2 had improved from NG 5 to NG 4, whereas 1 patient continued to be in NG 4. Factors associated with a poor outcome were an upper thoracic location (P = 0.025) and presence of a syrinx (P = 0.004). None of the patients had bladder dysfunction at follow-up of >6 months. CONCLUSIONS: After excision of spinal IDEM tumors, in patients who present with a poor neurologic function (NG 4 and 5), good functional outcome (NG 0-2) can be expected in >95% of patients. No recovery can be anticipated beyond 1 year after surgery.

Structural Origin and Surgical Complications of Peripheral Schwannomas.

BACKGROUND/AIM: In this study, we investigated the locations and surgical complications of schwannomas. PATIENTS AND METHODS: Data of 130 patients with schwannomas were retrospectively reviewed. Pre- and post-operative neurological symptoms, tumor locations, and nerves of origin (sensory, motor, or mixed) were reviewed. RESULTS: Before surgery, 69 patients had Tinel-like signs, 56 patients had pain, 32 patients had numbness, four patients had motor deficits. After surgery, 20 patients had developed a new neurological deficit; 11 patients had motor deficits, ten patients had sensory deficits, and one patient had both motor and sensory deficits. Most schwannomas occurred in mixed nerves, including the median nerve in 17 patients and tibial nerve in 13 patients. CONCLUSION: The most common site of schwannoma was the median nerve. Although the nerve of origin of the schwannoma could be identified in only 26.0% of cases, the data suggest that schwannomas occur in both sensory and motor nerves.

Peripheral nerve sheath tumors in Neurofibromatosis Type 2: Surgical and histopathologic features.

OBJECTIVE: Management of peripheral nerve sheath tumors (PNST) in Neurofibromatosis Type 2 (NF2) is complicated by frequent involvement of major peripheral nerves and concern that these tumors may be plexiform and/or involve multiple fascicles. Hybrid histologic features of both schwannoma and neurofibroma have been described in NF2-associated tumors, although the incidence of this phenotype in PNSTs is unknown. We sought to define the outcomes of surgery for tumors involving major peripheral nerves in NF2 and identify the rate of hybrid histology in PNSTs. PATIENTS AND METHODS: Functional outcomes of surgery for patients with tumors on major (named) peripheral nerves were recorded. Histopathologic analyses were performed on all available excised tumors. RESULTS: Nineteen operations were performed in 12 patients with NF2, for resection of 28 PNSTs. Among 11 tumors involving major peripheral nerves, 10 involved nerves related to motor function. Presenting symptoms in this group included pain (9) and weakness (4). Median tumor diameter was 3.4 cm (range:2.2-10.3 cm). Gross-total resection was achieved in 10 cases. Motor function was stable/improved in 10 cases but diminished after one case involving a small motor fascicle. All tumors involved a single fascicle. Histopathologic analyses of 21 available specimens revealed 19 pure schwannomas. In two cases (10 %) hybrid features of both schwannoma and neurofibroma were identified, with mast cells within regions consistent with neurofibroma. CONCLUSIONS: PNSTs can be resected safely in NF2, even if they involve major peripheral nerves. A small proportion (10 %) of these tumors harbor hybrid histologic features, which may explain reports of plexiform or multi-fascicular tumors in NF2.

Surgical Outcomes of Intratemporal Facial Nerve Schwannomas According to Facial Nerve Manipulation.

OBJECTIVES: The aim of this study was to evaluate the preoperative and postoperative facial nerve (FN) function in patients with FN schwannoma (FNS) and analyze the duration of preoperative facial palsy according to the preoperative and postoperative facial function. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 29 patients with FNS who underwent surgery. We evaluated the FN function according to the type of FN manipulation and location of the anastomoses in the cable nerve graft, and we also analyzed the duration of facial palsy according to the facial function before and after surgery. RESULTS: All 4 patients who underwent nerve-stripping surgery had the House-Brackmann (H-B) Grade III, 12 of 21 who underwent a cable nerve graft had the H-B Grade III or better postoperatively, and all 4 who underwent a hypoglossal facial crossover had the H-B Grade IV. Patients who underwent cable nerve grafting were more likely to have better FN function when the proximal anastomosis site was located in the internal auditory canal, geniculate ganglion, tympanic segment of FN, and distal end in the mastoid segment of FN. The duration of preoperative facial palsy was statistically shorter in patients with better postoperative facial function. CONCLUSION: Surgery can be considered in patients with FNS who have the H-B Grade III or worse. A shorter duration of facial palsy prior to surgery resulted in better postoperative facial function.

Neurofibromatosis tipos 1 y 2 / Neurofibromatosis type 1 and 2

La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)

Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)

Peripheral Nerve Schwannomas: A Literature Review

Introduction Schwannomas are benign tumors originating from the cells, which wrap around axons that are usually encapsulated and solitary. These tumors usually lead to little or no symptomatology. They are usually the most common peripheral nerve tumors in adults, with their highest incidence between the third and fifth decades of life. Objective To perform a review about schwannoma of the peripheral nerves, presenting its definition, epidemiology, diagnosis, symptomatology and treatment. Methodology This is a descriptive work, based on a review of articles available in the PubMed database with the descriptors schwannoma and peripheral nerves. Results and Discussion Only papers published between 1981 and 2019, describing studies in humans, and that were available as full articles were selected. A total of 391 articles were included; after reading the titles, we noted that 67 articles fit the topic of the present study. Among the articles selected for reading, 33 fit the objectives of the present work, and were considered for the writing of the present article. Conclusion Schwannomas are benign myelin sheath tumors that develop with local symptomatology or asymptomatic and present a good surgical prognosis with generally reduced rates of surgical complications.

Surgical treatment of giant benign sacral neurogenic tumors using the posterior-only approach.

OBJECTIVE: Few studies have reported on the effects of surgery on giant benign sacral neurogenic tumors since these tumors represent a major challenge for surgical oncologists. In the present study, we retrospectively reviewed our experiences in performing resections of giant benign sacral neurogenic tumors using the posterior-only approach via "fishing" method, and assessed the outcomes of patients after this procedure. PATIENTS AND METHODS: We retrospectively reviewed and analyzed the records of 155 consecutive patients with giant benign sacral neurogenic tumors who underwent resection by a posterior-only approach in our center from Feb 2008 to Feb 2018. RESULTS: Operations lasted for a mean of 183 ±â€¯37 min (range, 125-230 min). The mean estimated blood loss during the surgery was 1098 ±â€¯889 ml (range, 600-4100 ml). The mean follow-up time was 65 ±â€¯39 months (range, 12-118 months). By the last follow-up, the local recurrence rate was 7.1% (11/155), the combined overall symptom resolution and remission rate was 91.1% (123/135), and the total complication rate was 17.4% (27/155). CONCLUSION: The posterior-only approach is safe and effective in patients with giant benign sacral neurogenic tumors.

Intraoperative mapping and monitoring of sensory vagal fibers during vagal schwannoma resection.

Vagal schwannomas are rare, benign tumors. Intermittent intraoperative neuromonitoring via selective stimulation of splayed motor fibers running on the schwannoma surface to elicit a compound muscle action potential has been previously reported as a method of preserving vagal motor fibers. In this case report, vagal sensory fibers are mapped and continuously monitored intraoperatively during high vagus schwannoma resection using the laryngeal adductor reflex (LAR). Mapping of nerve fibers on the schwannoma surface enabled identification of sensory fibers. Continuous LAR monitoring during schwannoma subcapsular microsurgical dissection enabled sensory (and motor) vagal fibers to be monitored in real time with excellent postoperative functional outcomes. Laryngoscope, 129:E434-E436, 2019.

The natural history of incidental retroperitoneal schwannomas.

The natural history of asymptomatic retroperitoneal schwannomas is poorly understood. This study aimed at investigating the natural history of incidental retroperitoneal schwannomas. The medical charts and imaging studies of 22 asymptomatic patients under observation for at least 12 months for retroperitoneal schwannomas were reviewed. The duration of follow-up ranged between 13 and 176 months (mean 48 months). In the 22 patients managed by the "wait and see" approach, the average tumor size at initial presentation was 51 mm, which increased to 57 mm at final follow-up. During the final follow-up, 2 patients required surgical treatment for tumor enlargement, while the remaining patients remained asymptomatic without surgery. The average growth rate of the tumors was 1.9 mm/year (range: -1.9 to 8.7 mm/year). The majority of asymptomatic retroperitoneal schwannomas demonstrate minimal growth and may be suitable for management with the "wait and see" approach.

Different Visual Weighting due to Fast or Slow Vestibular Deafferentation: Before and after Schwannoma Surgery.

Background: Feedback postural control depends upon information from somatosensation, vision, and the vestibular system that are weighted depending on their relative importance within the central nervous system. Following loss of any sensory component, the weighting changes, e.g., when suffering a vestibular loss, the most common notion is that patients become more dependent on visual cues for maintaining postural control. Dizziness and disequilibrium are common after surgery in schwannoma patients, which could be due to interpretation of the remaining sensory systems involved in feedback-dependent postural control and spatial orientation. Objective: To compare visual dependency in spatial orientation and postural control in patients suffering from unilateral vestibular loss within different time frames. Methods: Patients scheduled for schwannoma surgery: group 1 (n = 27) with no vestibular function prior to surgery (lost through years), group 2 (n = 12) with remaining vestibular function at the time of surgery (fast deafferentation), and group 3 (n = 18) with remaining function that was lost through gentamicin installations in the middle ear (slow deafferentation). All patients performed vibratory posturography and rod and frame investigation before surgery and 6 months after surgery. Results: Postural control improved after surgery in patients that suffered a slow deafferentation (groups 1 and 3) (p < 0.001). Patients that suffered fast loss of remaining vestibular function (group 2) became less visual field dependent after surgery (p ≤ 0.035) and were less able to maintain stability compared with group 1 (p = 0.010) and group 3 (p = 0.010). Conclusions: The nature and time course of vestibular deafferentation influence the weighting of remaining sensory systems in order to maintain postural control and spatial orientation.

Occipital lobe epilepsy was presented in a patient with intracerebral schwannoma: a case report and literature review.

Schwannoma arising within brain parenchyma is a rare scenario. So far, only 70 cases were reported. We reported a case of intracerebral schwannoma presented with occipital lobe epilepsy, which has never been reported before. A 19-year-old man suffered from intermittent blurred vision and headache. Neuroradiological findings showed a left occipital lesion with cystic and solid components. Histological and electron micrograph features confirmed the diagnosis of schwannoma after the tumor was totally removed. The theories and literature related to this case were reviewed and the possible developmental origin was discussed. We found that this kind of schwannoma is more often in adolescent and young adults.

Surgical management of retroperitoneal schwannoma complicated with severe hydronephrosis: A case report.

RATIONALE: Schwannomas are usually benign tumors arising from well-differentiated schwann cells, which rarely occur in the retroperitoneal space. The lack of specific signs and radiologic imaging characteristics makes preoperative diagnosis rather difficult. Most retroperitoneal schwannomas are benign and the primary treatment choice for retroperitoneal schwannomas is surgical excision, however, the involvement of the urinary system is scarcely reported. PATIENT CONCERNS: A 34-year-old woman presented with progressive left abdominal pain and rebound abdominal mass at the left lower quadrant for 1 month. Radiological imaging suggested capsulated solid mass with cystic and necrotic areas in the retroperitoneum accompanied by severe left kidney hydronephrosis and preoperative biopsy result was inconclusive. DIAGNOSES: We believe this is a rare case of retroperitoneal schwannoma complicated with severe hydronephrosis. INTERVENTIONS: After preparation, the patient underwent laparoscopy exploration and converted to open surgical exploration. The patient accepted complete surgical excision of the retroperitoneal tumor and left kidney. Postoperative pathology diagnosis of the mass was proven to be benign retroperitoneal schwannoma. OUTCOMES: Postoperative course of the patient was uneventful and the left abdominal pain was greatly improved. After 12-month follow up, no evidence of recurrence or any other complication including renal failure was observed. LESSONS: Preoperative imaging and preoperative ultrasound-guided biopsy are helpful to make accurate diagnosis. The final diagnosis is based on postoperative histological and immunohistochemical findings. The primary treatment option is complete surgical resection of the retroperitoneal schwannoma and the involved upper urinary system when severe hydronephrosis occured. Local recurrence and overall survival are closely correlated with negative resection margins and pathology types.

Giant Dumbbell-Shaped Thoracic Schwannoma in an Elderly Patient Resected Through a Single-Stage Combined Laminectomy and Video-Assisted Thoracoscopy: Surgical Strategy and Technical Nuances.

BACKGROUND: Dumbbell-shaped schwannomas involving the spinal canal, the intervertebral foramen, and the thoracic cavity are rare lesions. Surgical treatment represents a challenge, and there is no consensus regarding ideal management. Two major surgical routes have been used: combined laminectomy and open thoracotomy or posterolateral extrapleural approach with wide bone removal. This report describes a relatively easy surgical strategy, combined laminectomy and thoracoscopy, which allows safe resection under an adequate view with low risk of spinal instability, pain, or respiratory problems. CASE DESCRIPTION: A 74-year-old man presented with rapidly progressing motor impairment caused by a dumbbell-shaped, 65-mm, Eden type III lesion at the T5 level. Magnetic resonance imaging showed an intraspinal-extradural mass extending into the chest cavity and causing severe spinal cord compression. The patient underwent single-stage surgery performed by a neurosurgical and thoracic team. The extradural and foraminal tumor components were first removed through a 1-level laminectomy with foraminotomy and without facetectomy. Subsequently, video-assisted thoracic surgery was performed to approach the anterior paraspinal component. Total tumor removal, confirmed with postoperative magnetic resonance imaging, was achieved. Pathologic diagnosis was schwannoma. The postoperative course was uneventful. The patient's neurologic deficits resolved, and he experienced minimal pain after the operation. CONCLUSIONS: A single-stage operation using combined laminectomy and video-assisted thoracic surgery is a safe and efficacious strategy for achieving total removal of dumbbell-shaped thoracic schwannomas, even in cases involving giant lesions and elderly patients.

Middle mediastinal schwannoma concealed by asthma and GORD.

Neurogenic tumours of the mediastinum in adults occur most often at the posterior mediastinum, majority of which are benign of nerve sheath in origin. A 72-year-old woman, known asthmatic, presented with chronic symptoms of hoarseness, dysphagia, chest heaviness, easy fatigability, cough, epigastric pain, feeling of abdominal fullness and choking with food intake and at a supine position. Treated for other disorders, routine chest X-ray incidentally found a homogenous convex radiodensity at the right paratracheal area; mass which was also observed with CT and 18F-fludeoxyglucose-positron emission tomography/CT scan studies. Mediastinoscopy with biopsy showed spindle to plump cells with strong S100 positivity. Thoracoscopic surgery done to completely excise the mass found it to be benign schwannoma.

Cervical Vestibular Evoked Myogenic Potential in Hypoglossal Nerve Schwannoma: A Case Report.

BACKGROUND: Schwannoma of the hypoglossal nerve is rare. This case report documents an atypical abnormality of the cervical vestibular evoked myogenic potential (cVEMP) in a patient with schwannoma of the hypoglossal nerve. The observed abnormality was attributed to the proximity of the hypoglossal nerve to the spinal accessory nerve in the medullary cistern and base of the skull. PURPOSE: To report cVEMP abnormality in a patient with hypoglossal nerve schwannoma and provide an anatomical correlation for this abnormality. RESEARCH DESIGN: Case report. STUDY SAMPLE: A 44-yr-old woman. DATA COLLECTION: Pure-tone and speech audiometry, tympanometry, acoustic stapedial reflex, auditory brainstem response, and cVEMP testing were performed. RESULTS: The audiological test results were normal except for the absence of cVEMP on the lesion side (right). CONCLUSIONS: A cVEMP abnormality indicating a compromised spinal accessory nerve was observed in a patient with hypoglossal nerve schwannoma. This case report highlights the importance of recording cVEMP in relevant neurological conditions and provides clinical proof for the involvement of the spinal accessory nerve in the vestibulocollic reflex pathway.