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Purpose: Neurofibromatosis type 2 (NF2) is intractable because of multiple tumors involving the nervous system and is clinically diverse and genotype-dependent. Stereotactic radiosurgery (SRS) for NF2-associated schwannomas remains controversial. We aimed to investigate the association between radiosurgical outcomes and mutation types in NF2-associated schwannomas., Methods: This single-institute retrospective study included consecutive NF2 patients with intracranial schwannomas treated with SRS. The patients' types of germline mutations ("Truncating," "Large deletion," "Splice site," "Missense," and "Mosaic") and Halliday's genetic severity scores were examined, and the associations with progression-free rate (PFR) and overall survival (OS) were analyzed., Results: The study enrolled 14 patients with NF2 with 22 associated intracranial schwannomas (median follow-up, 102 months).　The PFRs in the entire cohort were 95% at 5 years and 90% at 10-20 years. The PFRs tended to be worse in patients with truncating mutation exons 2-13 than in those with other mutation types (91% at 5 years and 82% at 10-20 years vs. 100% at 10-20 years, P = 0.140). The OSs were 89% for patients aged 40 years and 74% for those aged 60 years in the entire cohort and significantly lower in genetic severity group 3 than in the other groups (100% vs. 50% for those aged 35 years; P = 0.016)., Conclusion: SRS achieved excellent PFR for NF2-associated intracranial schwannomas in the mild (group 2A) and moderate (group 2B) groups. SRS necessitates careful consideration for the severe group (group 3), especially in cases with NF2 truncating mutation exons 2-13., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Objective: To observe the evolution and outcomes of postoperative trigeminal neuropathy following surgery of tumor involving the trigeminal nerve., Methods: A prospective observational study was conducted between October 2018 and February 2019 involving 25 patients with tumors confirmed to involve the trigeminal nerve during surgery by senior author. Pre- and postoperative trigeminal nerve function status and clinical data were recorded., Results: This study included 18 cases of meningioma and seven of trigeminal schwannoma. Among the meningioma cases, 55.6% of the patients reported facial sensory dysfunction before surgery, 33.3% presented ocular discomfort, and 5.6% had masticatory muscle atrophy. Postoperatively, all patients experienced facial paresthesia, 94.4% complained of eye dryness, and one (5.56%) exhibited keratitis. Additionally, one patient (5.56%) showed new-onset masticatory weakness. During follow-up, 50.0% of patients reported improvement in facial paresthesia, and one (5.56%) experienced deterioration. Eye dryness resolved in 35.3% of patients, and keratitis remission was observed in one patient. However, one patient (5.56%) developed neurotrophic keratitis. Overall, 55.6% of patients displayed mild masticatory weakness without muscle atrophy. In the cases of schwannoma, 28.6% of patients had facial paresthesia before surgery, 42.9% showed ocular discomfort, and one (14.3%) complained of masticatory dysfunction. Postoperatively, 85.7% of patients reported facial paresthesia and eye dryness, with one patient (16.7%) experiencing keratitis. During follow-up, 66.7% of patients demonstrated improvement in facial paresthesia, 28.6% showed eye dryness remission, and one patient (16.7%) recovered from keratitis. However, one patient (16.7%) developed new-onset neurotrophic keratitis. One patient (16.7%) experienced relief of masticatory dysfunction, but 42.9% reported mild deterioration. Another patient (14.3%) had facial anesthesia that had not improved., Conclusion: Postoperative trigeminal neuropathy is a common complication with a high incidence rate and poor recovery outcomes after surgery for tumors involving the trigeminal nerve. When trigeminal nerve damage is unavoidable, it is essential to provide a multidisciplinary and careful follow-up, along with active management strategy, to mitigate the more severe effects of postoperative trigeminal neuropathy., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.)

Purpose: Neurofibromatosis (NF) is an incurable genetic neurological condition. Psychosocial interventions that promote resiliency are a promising approach to address the high emotional distress and low quality of life (QoL) associated with NF. However, no studies have examined the psychosocial needs of treatment-seeking adults with NF. Our goal was to explore, using data from the largest efficacy trial of a psychosocial intervention for NF, differences in QoL, emotional distress, resiliency, and pain-related outcomes compared to other chronic medical populations and within subtypes (NF1, NF2, schwannomatosis; SCHW)., Methods: Enrolled participants (N = 228) were geographically diverse adults with NF and elevated stress. We performed secondary analysis on baseline measures of QoL, emotional distress, resiliency, and pain-related outcomes. We reported descriptive statistics and normative comparisons to understand the psychosocial characteristics of the overall sample and performed between-group analyses to explore differences within NF type., Results: Our sample endorsed worse QoL, emotional distress, resilience, and pain-related outcomes than similar chronic illness populations. Within NF types, participants with NF1 reported lower QoL and resilience compared to those with NF2. Participants with SCHW reported higher pain intensity than those with NF1. Participants with SCHW reported higher pain interference and lower physical QoL compared to those with NF1 and NF2., Conclusions: Our findings support the urgent need for psychosocial interventions targeting deficits in QoL, emotional distress, resilience, and pain-related outcomes in adults with NF. We recommend efforts to enhance sample diversity, prepare clinicians to provide high-levels of support, and attune skills training to each NF type., Trial Registration: ClinicalTrials.gov NCT03406208; https://clinicaltrials.gov/ct2/show/NCT03406208 (Archived by WebCite at http://www.webcitation.org/72ZoTDQ6h )., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner's syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex mass standardised uptake value max = 4.3. Computerised tomography-guided biopsy of lesion A was reported as neurofibroma with occasional atypia, lesion B a benign uterine leiomyoma and lesion C follicular lymphoma world health organisation Grade 2. Although she had been given the diagnosis of Neurofibromatosis Type-1 (NF1) 25-years previously following removal of an intradural extramedullary schwannoma she had no cutaneous stigmata of NF1. Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis. Following 6-months chemotherapy for lymphoma, surgery was performed to remove lesion A. Histology revealed a malignant peripheral nerve sheath tumour with areas of low and high-grade change. An incidental, well-differentiated small bowel neuroendocrine carcinoma was also excised. Close surveillance continues with no recurrence after 6 years. This case study describes a novel finding of three separate synchronous primary malignancies in a patient with schwannomatosis and a proven SMARCB1 pathogenic variant.

Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. We performed immunohistochemistry for PD-L1 (clones SP142 and E1L3N), CD3, CD20, CD8, and CD68 in NF1-related tumors (ten dermal and six plexiform neurofibromas) and NF2-related tumors (ten meningiomas and ten schwannomas) using archival formalin-fixed paraffin-embedded tissues. Expression of PD-L1 was considered positive in cases with > 5% membranous staining of tumor cells, in accordance with previously published biomarker studies. PD-L1 expression in tumor cells (using the SP142 and E1L3N clones, respectively) was assessed as positive in plexiform neurofibromas (6/6 and 5/6) dermal neurofibromas (8/10 and 6/10), schwannomas (7/10 and 10/10), and meningiomas (4/10 and 2/10). Sparse to moderate presence of CD68, CD3, or CD8 positive TILs was found in 36 (100%) of tumor specimens. Our findings indicate that adaptive resistance to cell-mediated immunity may play a major role in the tumor immune microenvironment of NF1 and NF2-associated tumors. Expression of PD-L1 on tumor cells and the presence of TILs suggest that these tumors might be responsive to immunotherapy with immune checkpoint inhibitors, which should be explored in clinical trials for NF patients.

Bevacizumab is considered an established part of the treatment strategies available for schwannomas in patients with Neurofibromatosis type 2 (NF2). In the UK, it is available through NHS National Specialized Commissioning to NF2 patients with a rapidly growing target schwannoma. Regrowth of the tumour on suspension of treatment is often observed resulting in prolonged periods of exposure to bevacizumab to control the disease. Hypertension and proteinuria are common events with bevacizumab use and there are concerns with regards to the long-term risks of prolonged treatment. Dosing, demographic and adverse event (CTCAE 4.03) data from the UK NF2 bevacizumab cohort are reviewed with particular consideration of renal and cardiovascular complications. Eighty patients (48 male:32 female), median age 24.5 years (range 11-66 years), were followed for a median of 32.7 months (range 12.0-60.2 months). The most common adverse events were fatigue, hypertension and infection. A total of 19/80 patients (24 %) had either a grade 2 or grade 3 hypertension event and 14/80 patients (17.5 %) had proteinuria. Of 36 patients followed for 36 months, 78 % were free from hypertension and 86 % were free of proteinuria. Logistic regression modeling identified age and induction dosing regime to be independent predictors of development of hypertension with dose of 7.5 mg/kg 3 weekly and age >30years having higher rates of hypertension. Proteinuria persisted in one of three patients after cessation of bevacizumab. One patient developed congestive heart failure and the details of this case are described. Further work is needed to determine optimal dosing regimes to limit toxicity without impacting on efficacy.

A 34-year-old female patient suffering from right-sided facial palsy presented to our hospital. Her hearing range was within normal limits. She had undergone GKS after receiving a diagnosis of facial nerve schwannoma (FNS). On the fourth day after GKS, the patient experienced sudden onset hearing loss on the right side without aggravation of the facial palsy. Intravenous corticosteroids were administered, and her hearing function improved gradually over the course of 15 days. This is the first case report of hyperacute hearing loss after GKS for FNS.

Background: Dumbbell-shaped hypoglossal schwannomas with intradural and extradural extension are extremely rare, and complete removal of these tumors is very difficult. This report describes such lesions in three patients that were completely removed via a purely endoscopic transoral approach., Method: Three patients with intradural and extradural growth hypoglossal schwannomas (three women, aged 16, 42 and 43 years) were treated by direct surgery via a purely endoscopic transoral approach to the posterior fossa., Results: In this series, radical resections of the dumbbell-shaped hypoglossal schwannomas were achieved in all three patients via a purely endoscopic transoral approach without creating additional cranial nerve deficits but temporary left vagus palsy in one case and a temporary left hypoglossal palsy in one case. The postoperative vagus and hypoglossal palsy had recovered in 3 months after surgery. No patient experienced complications such as postoperative cerebrospinal fluid leak, meningitis and cerebrovascular evidence. At the time of this review, the preoperative lingual motor function and muscular bulk had recovered but hemiatrophy of the tongue was still detectable. The preoperative vagus palsy had recovered by the 10th day after surgery. The hearing loss and facial palsy before surgery had completely recovered in 3 months postoperatively. No patient in our series has experienced a recurrence for the follow-up period (3-11 months)., Conclusions: Dumbbell-shaped hypoglossal schwannomas tend to cause lower cranial nerve deficits, facial paralysis and hearing loss. With appropriate preoperative evaluation and careful planning of the perioperative period, complete tumor resection can be achieved via the purely endoscopic transoral approach. The endoscopic transoral approach is an effectice choice for management of dumbbell-shaped hypoglossal schwannomas.

A 32-year-old man had seizure attack since April 2008 and radiographic examination revealed a heterogeneous enhancing mass at the left subfrontal region. He underwent craniotomy for tumor removal on October 1, 2008. The tumor, which was grayish white with glistening appearance and rubbery consistency, was traced to the proximal part of left olfactory tract. Histopathological examination revealed a hypocellular tumor with dense hyalinization in most areas. The tumor cells had ovoid to elongate and often comma-shaped nucleus. Myxoid change of the stroma was apparent in places. Most of the tumor cells were immuno-reactive for S-100 protein. Staining for Leu 7 (CD57 or HNK-1) was negative. Bodian method illustrated many axons within the tumor. Ultrastructural study of the tumor cells showed features compatible with those of olfactory ensheathing cell. The tumor was designated as olfactory ensheathing cell tumor with neurofibroma-like features. There have been 14 nerve sheath tumors arising from the olfactory nerve reported in the literature; all of them had the morphology of schwannoma. Our case, which had the morphology simulating neurofibroma was the first of its kind to be recorded.

Background: The clinical course of abducens nerve palsy associated with skull base tumour is rarely reported. In this study, we examined the post-operative course of abducens nerve palsies associated with various skull base tumours., Method: Between January 2003 and December 2006, 240 patients with various skull base tumours underwent surgery at Kyushu University Hospital. Among them, nine patients presented with abducens nerve palsies (ten nerves) following surgery. The conditions included two pituitary adenomas, two trigeminal schwannomas and five meningiomas. We evaluated the function of the abducens nerves in these patients on admission, at discharge, and periodically in the outpatient clinic., Findings: Four of the abducens nerve palsies already existed prior to surgery, and six of them developed post-operatively. In the four patients with pituitary adenomas and trigeminal schwannomas, all nerves were anatomically preserved and showed complete recovery of function within 6 months after surgery. In contrast, only two of the six palsies in patients with skull base meningiomas showed complete recovery. In three patients with petro-clival meningiomas, the abducens nerves were completely transected during surgery, and one was reconstructed using fibrin glue. This patient remarkably recovered from the abducens nerve palsy within 2 years., Conclusions: The abducens nerve palsies in pituitary adenomas and trigeminal schwannomas showed a better clinical course compared to those in skull base meningiomas. The abducens nerve palsies that occur with skull base meningiomas are less likely to recover. Nevertheless, it is important to preserve the nerves and to perform surgical repair if the nerve is transected.

Schwannomas are the most common benign tumors developing in peripheral nerves. They account for 5% of all tumors in upper extremity. They usually present as a slow-growing mass, sometimes associated to pain and paresthesia. Preoperative evaluation is based on US and MRI, but final diagnosis requires histopathology. The aim of this study is to define clinical findings and MRI characteristics in identification, localization, and possible differential diagnosis of schwannomas.

Neurinomas of the hypoglossal nerve extending extra-cranially are rare; a schwannoma in a 63-year-old woman causing nerve palsy is reported. The tumour presented as a slow-growing mass in the right submandibular space; a surgical approach with transcervical exploration was performed. The post-operative course was uneventful.

A 59-year-old male was transferred to our facility after initial workup for left eye blindness revealed multiple brain lesions. The patient presented with scant pedunculated skin lesions on his neck and arms, axillary freckling and bilateral subcutaneous ankle nodules suggestive of neurofibromatosis type 1 (NF-1). Neurological examination revealed left-sided blindness, diminished pupillary response to light, incomplete eyelid closure and facial droop. A CT series of the chest/abdomen/pelvis demonstrated several lesions in the lungs, liver and left kidney. CT-guided biopsy of the renal lesion was "consistent with metastatic melanoma" based on the presence of malignant cell staining for the melanocyte differentiation antigen MART-1, as well as the calcium binding protein S-100. A dermatology consultant confirmed neurofibromas and a café au lait macule. No dysplastic nevi or primary melanoma were identified. An ophthalmology consultant noted gray choroidal lesions on fundoscopic examination thought to be metastatic disease of unknown primary. Despite treatment with whole brain irradiation and intravenous steroids, the patient died on hospital day 10. A full autopsy showed diffuse neurofibromas and café au lait macules consistent with NF-1 and malignant melanocytic schwannomas with multiple metastases.

Greater superficial petrosal nerve (GSPN) schwannoma is a very rare type of facial nerve schwannoma. Including our case, only 6 schwannomas have been reported to originate from the GSPN. Clinical features, imaging, diagnosis, differential diagnosis and treatment are discussed reviewing other cases in the pertinent literature.

We report 3 cases of benign retroperitoneal schwannoma, of whom one presented with flank pain with hematuria, one presented with headache and secondary hypertension and one presented with recurrent renal colicky pain. Two patients were treated by open surgical excision of the tumor with nephrectomy of the corresponding side because the tumors were densely adhered to the kidney and one case treated by laparoscopic resection of the mass only. The diagnosis of schwannoma was established postoperatively after histopathological examination and immunohistochemistry. All patients are doing well in follow-up.

Benign tumors in the tracheobronchial tree are rare. We report two cases of primary endotracheal neurogenic tumors in patients who presented insidiously. Both patients did not manifest other clinical features of neurofibromatosis (Von Recklinghausen's disease). A single procedure using rigid bronchoscopy and neodymium: yttrium-aluminum-garnet laser resection resulted in excellent resolution of airway patency with good follow-up results in both cases.

Background: This series illustrates the association of communicating hydrocephalus with intracranial non-obstructive schwannomas. This association has commonly been observed, however it has only been reported once previously. Moreover, in all the patients we present, hyperproteinorrhachia was a common denominator. This finding may therefore be the underlying mechanism for hydrocephalus., Method and Findings: Seven patients presenting with intracranial schwannomas along with non-obstructive hydrocephalus and hyperproteinorrhachia are reported. Six had a vestibular schwannoma and presented with a unilateral deafness and various degrees of gait disturbance, urinary incontinence and neuropsychological impairment. Due to their advanced ages, these patients underwent a ventriculo-peritoneal shunt, and their symptoms related to hydrocephalus resolved. One patient that suffered from hemifacial dysesthesia and memory deficits presented with a non-obstructive trigeminal schwannoma. In this case the tumour was removed and the hydrocephalus was consequently reversed, and the CSF protein content normalized., Interpretation: The constant finding of hyperproteinorrhachia in all these patients suggests that a high CSF protein content may be the underlying cause of hydrocephalus through a speculative mechanism of decreased CSF resorption.

Most idiopathic trigeminal neuralgias are caused by vascular compression at the root entry zone of the trigeminal nerve. (Dandy [1] and Jannetta [2]) We report a case of pure V1 trigeminal neuralgia caused by a small trigeminal neurinoma which had not been detected on preoperative neuroradiological examination.

Pre-operative and postoperative auditory function was reviewed retrospectively in 98 patients with vestibular schwannomas. According to their hormonal status, women were categorized as "premenopausal" and "postmenopausal". Before surgery, 48% of the women (65% premenopausal) and 16% of the men presented with sudden hearing loss. The degree of auditory function before operation was similar for women and men. Preservation of pre-operative hearing was possible for 41% of the women (21% premenopausal) and 59% of the men. Further details of the surgery and the results of histopathological examination were also compared for women and men. Our results support substantial evidence that hearing preservation after surgery of vestibular schwannoma is easier to accomplish for men than for women. The finding of significantly more sudden hearing loss in premenopausal women may suggest a hormonal influence on tumour growth, which may also be partially responsible for the difference in hearing prognosis between women and men.

Two cases of cystic brainstem schwannomas protruding into the fourth ventricle are described. Both patients presented with hemifacial spasm. While there is only one previous case report of an intraventricular brainstem schwannoma, there has been no prior description in the literature of hemifacial spasm associated with such a tumor. The clinical, radiographic, surgical, and histopathological features of these tumors are elaborated. The relationship of hemifacial spasm to the various putative theories of origin proposed for intraparenchymal schwannomas is discussed.

A rare case of benign pelvic neurilemmoma with bladder infiltration and ureteral obstruction is presented. This neurally originated tumor may occur anywhere in the body, but involvement of the urinary tract is rare. Management depends upon location and other clinical findings, and in this case, since complete removal was impossible, urinary derivation was employed as a palliative treatment.

From 1972 to 1985 158 patients (pts.) were operated because of a mediastinal tumor at the Dept. of Thoracic and Cardiovascular Surgery at Düsseldorf. The tumor led to hemodynamic effects in 11 pts. (8 female, 3 male). In 6 pts. occurred a passive congestion of the upper caval vein (malignant teratoma 2 X, malignant thymoma 2 X, Boeck's disease 1 X, Non Hodgkin's disease 1 X), 4 pts. had a functional stenosis of pulmonary artery (dermoid 2 X, benign thymoma 2 X) and 1 pt. had pericardial effusion by a neurinoma. Being operated all pts. with 'pulmonary stenosis' were free of complaints, while all other pts. had infaust prognoses.

Serum concentrations of somatomedin and immunoreactive insulin were measured during the hypoglycemic phase of 3 patients with tumor hypoglycemia. Normal amounts of somatomedin were detected in their fasting sera, but they may have been inappropriate (or associated with enhanced insulin-like activity) considering the degree of hypoglycemia. Fasting serum insulin levels were consistently depressed, and in two of the cases remained low even after an oral glucose load. Nevertheless, the blood glucose concentrations of these two patients fell to hypoglycemic levels again by 3 hours; the mechanism of this reactive hypoglycemia remains unclear.