Genetic changes in the FH gene cause vagal paraganglioma.

Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of diagnostics and treatment. VPGL can occur as a hereditary tumor and, like other head and neck paragangliomas, is most frequently associated with mutations in the SDHx genes. However, data regarding the genetics of VPGL are limited. Herein, we report a rare case of a 41-year-old woman with VPGL carrying a germline variant in the FH gene. Using whole-exome sequencing, a variant, FH p.S249R, was identified; no variants were found in other PPGL susceptibility and candidate genes. Loss of heterozygosity analysis revealed the loss of the wild-type allele of the FH gene in the tumor. The pathogenic effect of the p.S249R variant on FH activity was confirmed by immunohistochemistry for S-(2-succino)cysteine (2SC). Potentially deleterious somatic variants were found in three genes, SLC7A7, ZNF225, and MED23. The latter two encode transcriptional regulators that can impact gene expression deregulation and are involved in tumor development and progression. Moreover, FH-mutated VPGL was characterized by a molecular phenotype different from SDHx-mutated PPGLs. In conclusion, the association of genetic changes in the FH gene with the development of VPGL was demonstrated. The germline variant FH: p.S249R and somatic deletion of the second allele can lead to biallelic gene damage that promotes tumor initiation. These results expand the clinical and mutation spectra of FH-related disorders and improve our understanding of the molecular genetic mechanisms underlying the pathogenesis of VPGL.

[Analysis of clinical manifestations and imaging features of facial nerve schwannomas].

Objective:To explore the clinical manifestations and imaging characteristics, and to clarify the imaging value in the diagnosis of facial nerve schwannomas. Methods:Retrospectively analyze the data of 23 patients with facial nerve schwannomas confirmed by surgery and pathology in the Department of Otorhinolaryngology of the First Affiliated Hospital of the Air Force Military Medical University from September 2020 to September 2022, including 8 males and 15 females, aged 18-66 years old. Summarize and analyze their clinical symptoms, specialized examinations, and imaging findings. Results:The clinical manifestations were facial nerve paralysis in 15 cases（2 cases of HB Ⅳ, 6 cases of HB Ⅴ, 7 cases of HB Ⅵ）, hearing loss in 14 cases（5 cases of conductive deafness, 2 cases of mixed deafness, and 7 cases of severe sensorineural hearing loss）, 8 cases tinnitus, 7 cases ear pain, 4 cases dizziness, 4 cases headache, 2 cases ear pus, and parotid gland tumors in 6 cases presenting as local masses. Endoscopic examination revealed 8 cases of external ear canal tumors and 3 cases of intratympanic tumors. Combining temporal bone HRCT, MRI enhanced scanning, and CPR imaging techniques, 1 case involved the internal auditory canal segment, 2 cases in the tympanic segment, 6 cases in the parotid gland area. A total of 14 cases involved two or more segments of the internal auditory canal segment, the labyrinthine segment, geniculate ganglion, the tympanic segment, and the mastoid segment. When the tumors were large, adjacent structures were involved. It was found that 8 cases invaded the external auditory canal and tympanic cavity, ossicles were displaced or bony destruction; 3 cases invaded the jugular foramen area, and 1 case grew to the middle cranial fossa region with temporal lobe brain parenchymal compression. Conclusion:The clinical manifestations of facial nerve schwannomas are diverse. The combination of various imaging techniques will be conducive to topical and qualitative diagnosis and provide an important basis for treatment strategies.

Preservation of cranial nerve function in large and giant trigeminal schwannoma resection: a case series.

BACKGROUND: Trigeminal schwannomas (TSs) are intracranial tumors that can cause significant brainstem compression. TS resection can be challenging because of the risk of new neurologic and cranial nerve deficits, especially with large (≥ 3 cm) or giant (≥ 4 cm) TSs. As prior surgical series include TSs of all sizes, we herein present our clinical experience treating large and giant TSs via microsurgical resection. METHODS: This was a retrospective, single-surgeon case series of adult patients with large or giant TSs treated with microsurgery in 2012-2023. RESULTS: Seven patients underwent microsurgical resection for TSs (1 large, 6 giant; 4 males; mean age 39 ± 14 years). Tumors were classified as type M (middle fossa in the interdural space; 1 case, 14%), type ME (middle fossa with extracranial extension; 3 cases, 43%), type MP (middle and posterior fossae; 2 cases, 29%), or type MPE (middle/posterior fossae and extracranial space; 1 case, 14%). Six patients were treated with a frontotemporal approach (combined with transmastoid craniotomy in the same sitting in one patient and a delayed transmaxillary approach in another), and one patient was treated using an orbitofrontotemporal approach. Gross total resection was achieved in 5 cases (2 near-total resections). Five patients had preoperative facial numbness, and 6 had immediate postoperative facial numbness, including two with worsened or new symptoms. Two patients (28%) demonstrated new non-trigeminal cranial nerve deficits over mean follow-up of 22 months. Overall, 80% of patients with preoperative facial numbness and 83% with facial numbness at any point experienced improvement or resolution during their postoperative course. All patients with preoperative or new postoperative non-trigeminal tumor-related cranial nerve deficits (4/4) experienced improvement or resolution on follow-up. One patient experienced tumor recurrence that has been managed conservatively. CONCLUSIONS: Microsurgical resection of large or giant TSs can be performed with low morbidity and excellent long-term cranial nerve function.

Extracranial Hypoglossal Schwannoma: Case Report and Literature Review.

BACKGROUND: Schwannomas are solitary neurogenic tumors originating from the myelin sheath of peripheral nerves. Extracranial hypoglossal schwannomas comprise <5% of all head and neck schwannomas and can mimic submandibular salivary gland tumors. CASE REPORT: We report the diagnostic imaging, surgical treatment, and histopathological findings of a rare case of extracranial schwannoma of the hypoglossal nerve in a 73-year-old female, presented with an asymptomatic swelling in the left submandibular region that had been persisted for approximately three years. CONCLUSION: Accurate diagnosis of this rare clinical entity requires comprehensive diagnostics. The optimal therapeutic strategy is nerve-sparing surgical excision, although it can be challenging.

Functional vagal paraganglioma developing 15 years after resection of a retroperitoneal paraganglioma.

The patient, a 40-year-old woman, was diagnosed as having a functional right vagal paraganglioma (PGL) 15 years after undergoing resection for a retroperitoneal PGL. 123I-MIBG scintigraphy showed no accumulation, but as the blood noradrenaline and urinary normetanephrine concentrations were elevated, the tumor was judged as being functional, and surgery was scheduled. The patient was started on doxazosin infusion and embolization of the tumor feeding vessel was performed before the surgery. Intraoperative examination showed that the tumor was contiguous with the vagal nerve, necessitating combined resection of the vagal nerve with the tumor. Postoperatively, the catecholamine levels returned to normal range. Histopathologically, the tumor was diagnosed as a moderately differentiated, intermediate-malignant-grade PGL, with a GAPP score of 4 to 6. No non-chromaffin tissue was observed in the tumor background, so that the functional vagal PGL was considered as a sporadic metachronous tumor rather than as a metastasis from the retroperitoneal PGL. More than half of head and neck paragangliomas (HNPGLs) are reported to arise in the carotid body, and about 5% from the vagal nerve. In addition, HNPGLs rarely produce catecholamines. Herein, we consider the relationship with the previously resected retroperitoneal PGL based on a review of the literature.

Computed tomographic features of canine intracranial and jugular foraminal masses involving the combined glossopharyngeal, vagus, and accessory nerve roots.

A chronic cough, gag, or retch is a common presenting clinical complaint in dogs. Those refractory to conservative management frequently undergo further diagnostic tests to investigate the cause, including CT examination of their head, neck, and thorax for detailed morphological assessment of their respiratory and upper gastrointestinal tract. This case series describes five patients with CT characteristics consistent with an intracranial and jugular foraminal mass of the combined glossopharyngeal (IX), vagus (X), and accessory (XI) cranial nerves and secondary features consistent with their paresis. The consistent primary CT characteristics included an intracranial, extra-axial, cerebellomedullary angle, and jugular foraminal soft tissue attenuating, strongly enhancing mass (5/5). Secondary characteristics included smooth widening of the bony jugular foramen (5/5), mild hyperostosis of the petrous temporal bone (3/5), isolated severe atrophy of the ipsilateral sternocephalic, cleidocephalic, and trapezius muscles (5/5), atrophy of the ipsilateral thyroarytenoideus and cricoarytenoideus muscles of the vocal fold (5/5), and an ipsilateral "dropped" shoulder (4/5). Positional variation of the patient in CT under general anesthesia made the "dropped" shoulder of equivocal significance. The reported clinical signs and secondary CT features reflect a unilateral paresis of the combined cranial nerves (IX, X, and XI) and are consistent with jugular foramen syndrome/Vernet's syndrome reported in humans. The authors believe this condition is likely chronically underdiagnosed without CT examination, and this case series should enable earlier CT diagnosis in future cases.

Intraoperative visualization of cranial nerve schwannomas using second-window indocyanine green: A case series.

BACKGROUND: Second Window Indocyanine Green (SWIG) is a novel intraoperative imaging technique that uses near-infrared (NIR) light for intra-operative tumor visualization using the well-known fluorophore indocyanine green (ICG). Because schwannomas often incorporate the nerve into the encapsulated tumor and impinge on surrounding neural structures, SWIG is a promising technique to improve tumor resection while sparing the nerve. OBJECTIVE: To demonstrate the use of SWIG in resection of cranial nerve schwannomas. METHODS: Three patients with cranial nerve schwannomas (i.e., trigeminal, vestibular, and vagus) underwent SWIG-guided resection. During surgery, NIR visualization was used intermittently used to detect fluorescence to guide resection. Signal-to-background ratio was then calculated to quantify fluorescence. RESULTS: Patients were infused with ICG at a dose of 5.0 mg/kg 24 hours before surgery. Each patient achieved total or near-total resection and relief of symptoms with lack of recurrence at six-month follow-up. The average SBR calculated was 3.79, comparable to values for SWIG-guided resection of other brain and spine tumors. CONCLUSION: This case series is the first published report of trigeminal and vagus nerve schwannoma resection using the SWIG technique and suggests that SWIG may be used to detect all schwannomas, alongside many other types of brain tumor. This paper also demonstrates the importance of preoperative ICG infusion timing and discusses the inverse pattern of NIR signal that may be observed when infusion occurs outside of the optimal timing. This provides direction for future studies investigating the administration of SWIG to resect cranial nerve schwannomas and other brain tumors.

Diagnostic Challenges and Imaging Considerations for Intraparotid Facial Nerve Schwannoma: A Case Report and Literature Review.

BACKGROUND A mass in the parotid gland usually indicates parotid gland neoplasia. Warthin tumors or pleomorphic adenomas are common differential diagnoses. Less frequently, other differential diagnoses and sites of origin are considered. Schwannomas are rare, benign tumors in the head and neck region. Even more rarely, these tumors occur in the intraparotid course of the facial nerve. In the following, we report about 2 patients in whom a mass in the right parotid gland was found incidentally during magnetic resonance imaging (MRI). CASE REPORT We reviewed data from the literature on intraparotid facial nerve schwannomas (IPFNS) and compared them with those from our cases. The focus was on data such as clinical history, clinical symptoms, electroneurography, and various imaging modalities, such as ultrasonography and MRI combined with diffusion-weighted imaging. CONCLUSIONS It is challenging to distinguish facial nerve schwannomas from other neoplasms. Patient's history, clinical symptoms, MRI examination with diffusion-weighted imaging, and high-resolution ultrasound imaging are decisive factors for diagnosis and should be performed when IPFNS is suspected. Diagnosis and therapy for IPFNS remain challenging. A wait-and-scan approach could be an option for patients with small tumors and good facial nerve function. On the other hand, patients with advanced tumors associated with limited facial nerve function can benefit from surgical approaches or stereotactic radiosurgery.

[Analysis of the outcome of 12 cases of facial nerve tumors].

Objective:This study aims to provide a comprehensive summary of the pathogenesis, screening modalities, treatment strategies, repair modalities and preliminary results associated with facial nerve tumors. Methods:A retrospective analysis was conducted on the clinical data of 12 patients with facial nerve tumors who were admitted to our department between May 2018 and February 2023. The study population consisted of 5 males and 7 females, with ages ranging from 35 to 90 years. Clinical symptoms observed in these patients included facial nerve palsy, hearing loss, tinnitus, headache, and otalgia, etc. The severity of facial nerve dysfunction was assessed using the House-Brackmann（H-B） facial nerve function classification, with 3 cases classified as grade Ⅰ, 4 cases as grade Ⅲ, 2 cases as grade Ⅳ, and 3 cases as grade Ⅴ. There was a total of 11 patients who presented with hearing loss. Among these patients, 7 cases were diagnosed with conductive hearing loss, 2 cases with sensorineural hearing loss, and 2 cases with mixed hearing loss. The selection of the observation or surgical route for tumor localization was based on clinical symptoms, facial nerve function grading, and imaging examination results including temporal bone CT and enhanced MRI. Specifically, the location of the tumor was selected for observation or the best surgical route: 2 cases were followed up for observation, 1 case underwent biopsy, and 9 cases underwent tumor resection（7 cases of trans-mastoid approach, 2 cases of combined parotid-mastoidal approach）, concurrent repair of the facial nerve（4 cases of auricular nerve grafting, 3 cases of facial nerve diversion anastomosis, 2 cases of peroneal nerve grafting）. （4 cases of auricular nerve graft, 3 cases of facial nerve diversion anastomosis and 2 cases of peroneal nerve grafting）. Periodic postoperative evaluation of facial nerve function was conducted. Results:1-year follow-up was available. Intraoperatively, it was observed that 66.7%（6 out of 9） of the facial nerve tumors were present in multiple segments. Among these segments, the vertical segment had the highest proportion, accounting for 77.8%（7 out of 9）, followed by the labyrinthine segment/geniculate ganglion with 66.7%（6 out of 9） and the horizontal segment with 55.6%（5 out of 9）. Postoperative pathology confirmed 8 cases with nerve sheath meningioma, Ⅰ with seminal fibroma and 1 with hemangioma. Postoperative facial nerve function was graded as H-B grade I in one patient）, grade Ⅲ in three, grade Ⅳ in four, grade Ⅴ in 2, and grade Ⅵ in 2 patients. The auditory outcomes following surgery are as follows: 8 individuals experienced postoperative hearing loss, while 2 individuals demonstrated postoperative hearing preservation. Conclusion:In the case of patients presenting with facial nerve palsy as their initial symptom, it is imperative to consider the potential presence of a facial nerve tumor. To determine the appropriate course of action, it is necessary to ascertain the size and location of the tumors through imaging examinations. This information will aid in the decision making process regarding whether surgical intervention is warranted, and so, the most suitable approach. Additionally, the choice of repair method during the operation should be guided by the extent of facial nerve defect.

Transmaxillary approach for resection of maxillary division trigeminal schwannoma at foramen rotundum.

BACKGROUND: The foramen rotundum and anterior cavernous sinus have traditionally been accessed by transcranial approaches that are limited by the high density of critical neurovascular structures. The transmaxillary approach provides an entirely extradural route to the foramen rotundum and anterior cavernous sinus. METHOD: This patient with neurofibromatosis and facial pain with trigeminal schwannoma at the foramen rotundum was successfully treated by transmaxillary resection of the tumor. This approach allowed for a direct extradural access to the pathology, with bony decompression and tumor resection, avoiding transcranial routes. CONCLUSION: The transmaxillary approach provides a safe and entirely extradural corridor to access smaller localized skull base lesions at and surrounding the cavernous sinus.

Clinical and Imaging Outcomes After Trigeminal Schwannoma Radiosurgery: Results From a Multicenter, International Cohort Study.

BACKGROUND AND OBJECTIVES: An international, multicenter, retrospective study was conducted to evaluate the long-term clinical outcomes and tumor control rates after stereotactic radiosurgery (SRS) for trigeminal schwannoma. METHODS: Patient data (N = 309) were collected from 14 international radiosurgery centers. The median patient age was 50 years (range 11-87 years). Sixty patients (19%) had prior resections. Abnormal facial sensation was the commonest complaint (49%). The anatomic locations were root (N = 40), ganglion (N = 141), or dumbbell type (N = 128). The median tumor volume was 4 cc (range, 0.2-30.1 cc), and median margin dose was 13 Gy (range, 10-20 Gy). Factors associated with tumor control, symptom improvement, and adverse radiation events were assessed. RESULTS: The median and mean time to last follow-up was 49 and 65 months (range 6-242 months). Greater than 5-year follow-up was available for 139 patients (45%), and 50 patients (16%) had longer than 10-year follow-up. The overall tumor control rate was 94.5%. Tumors regressed in 146 patients (47.2%), remained unchanged in 128 patients (41.4%), and stabilized after initial expansion in 20 patients (6.5%). Progression-free survival rates at 3 years, 5 years, and 10 years were 91%, 86%, and 80 %. Smaller tumor volume (less than 8 cc) was associated with significantly better progression-free survival ( P = .02). Seventeen patients with sustained growth underwent further intervention at a median of 27 months (3-144 months). Symptom improvement was noted in 140 patients (45%) at a median of 7 months. In multivariate analysis primary, SRS ( P = .003) and smaller tumor volume ( P = .01) were associated with better symptom improvement. Adverse radiation events were documented in 29 patients (9%). CONCLUSION: SRS was associated with long-term freedom (10 year) from additional management in 80% of patients. SRS proved to be a valuable salvage option after resection. When used as a primary management for smaller volume tumors, both clinical improvement and prevention of new deficits were optimized.

Infiltrative fibrous lesion of the facial nerve mimicking a facial nerve tumor.

PURPOSE: To report three cases of facial nerve lesions that were clinically expected to be facial nerve tumors but showed fibrotic infiltration without any apparent signs of a specific tumor on histopathological findings. We also aimed to investigate the clinical characteristics of these cases. METHODS: Medical records of patients who underwent surgery for facial nerve lesions were reviewed. RESULTS: All three cases initially had House-Brackmann (HB) grade IV-V facial nerve palsy. On radiological imaging, schwannoma or glomus tumor originating from the facial nerve was suspected. All patients underwent complete surgical removal of the neoplasm followed by facial nerve reconstruction using the sural nerve. The lesions were histologically confirmed as infiltrative fibrous lesions without tumor cells. In two cases, facial nerve palsy improved to HB grade III by nine months post-surgery, and there were no signs of recurrence on follow-up MRI. The other case, after 1 year of follow-up, showed persistence of HB grade V facial nerve palsy without any evidence of recurrence. CONCLUSION: Fibrotic lesions of the facial nerve could mimic primary facial nerve tumors. Clinicians should consider this condition even when a facial nerve tumor is suspected.

Endoscopic Transorbital Surgery for Trigeminal Schwannoma: Introduction of a Novel Approach: 2-Dimensional Operative Video.

INDICATIONS CORRIDOR AND LIMITS OF EXPOSURE: The major indications of endoscopic transorbital approach include spheno-orbital meningiomas, cavernous sinus lesions, and Meckel cave lesion such as trigeminal schwannomas. It can avoid excessive brain retraction and allows for a fast recovery to the normal daily living activity. ANATOMIC ESSENTIALS NEED FOR PREOPERATIVE PLANNING AND ASSESSMENT: To access the cavernous sinus, the sagittal crest and meningo-orbital band should be identified and cut. ESSENTIAL STEPS OF THE PROCEDURE: 1. Skin incision along the superior eyelid is performed. 2. Careful dissection of the soft tissue under the orbicularis is required not to injure the orbital septum. 3. After the lateral orbital rim is exposed, the periosteum and periorbita are elevated from the lateral orbital wall. 4. Drilling of the zygomatic bone within the orbit exposes the temporalis muscle first followed by the exposure of the temporal dura. It is essential to obtain adequate working room when the base of the greater sphenoidal wing is drilled. The sagittal crest should be removed, and the meningo-orbital band should be cut to expose the lateral cavernous sinus wall. PITFALLS/AVOIDANCE OF COMPLICATIONS: For successful access through the orbit, endoscopic transorbital approach needs to minimize the retraction of the orbit. To achieve this goal, retraction of the orbit should be limited to a maximum of 10 minutes. VARIANTS AND INDICATIONS OF THEIR USE: This approach can be combined with lateral orbitotomy. It provides a wider working room and makes surgery easier to access the lateral temporal lobe.The patient consented to the procedure, and the participants and any identifiable individuals consented to publication of his/her image. Images at 1:29 reproduced from Corrivetti F, de Notaris M, Di Somma A, et al, "Sagittal crest": definition, stepwise dissection, and clinical implications from a transorbital perspective, Operative Neurosurgery , 22(5), p e206-e212, ©2022, by permission from the Congress of Neurological Surgeons. Video screen capture from The Neurosurgical Atlas at 1:06 used with permission from Aaron Cohen-Gadol; ©The Neurosurgical Atlas, all rights reserved.

Characteristics and Management of Facial Nerve Schwannomas and Hemangiomas.

OBJECTIVES: To characterize facial nerve (FN) schwannomas (FNSs) and FN hemangiomas (FNHs) and their clinical features and management strategies, and to describe the results of cable nerve grafting after FN sectioning during tumor removal. METHODS: This retrospective study included 84 FNS cases and 42 FNH cases managed between July 1989 and July 2020 at a quaternary referral center for skull base pathology. Clinical details, locations, management, and results of cable nerve grafting at 1 year and during an average period of 3.12 years were evaluated. Sural nerve interpositioning was performed for patients who experienced FN paralysis for less than 1 year and underwent nerve sectioning during tumor removal. RESULTS: FNSs more often involved multiple segments compared with FNHs. The cerebellopontine angle and the mastoid segments were involved in 16 (19.1%) and 34 (40.5%) FNS cases, respectively; however, the cerebellopontine angle and the mastoid segments were involved in 0 and 7 (16.7%) FNH cases, respectively. Sectioned nerves of 99 patients (78.6%) were restored using interposition cable grafting. At the last follow-up evaluation, 56.3% of FNSs and 60.7% of FNHs attained House-Brackmann (HB) grade III. Lower preoperative HB grades were associated with poorer postoperative outcomes. For FNSs, the mean HB grades were 4.13 at 1 year postoperatively and 3.75 at the last follow-up evaluation ( p = 0.001); however, for FNHs, the mean HB grades were 4.04 postoperatively and 3.75 at the last follow-up evaluation. Therefore, extradural coaptation yielded better outcomes. CONCLUSION: FNSs can occur along any part of the FN along its course, and FNHs are concentrated around the area of geniculate ganglion. The results of cable inter positioning grafts are better in patients with preoperative FN-HB-III or less when compared with higher grades. The outcome of the interpositioning continues to improve even after 1 year in extradural coaptation.

An unexpected complication of hypoglossal schwannoma surgery: Cerebrospinal fluid leakage-A case report and literature review.

BACKGROUND: Extracranial hypoglossal schwannoma is a rare tumor primarily treated with surgical excision. This article aims to highlight the potential for unexpected complications intraoperatively, such as cerebrospinal fluid leakage from skullbase to neck. METHODS: A previously healthy 23-year-old male presented with tongue numbness. Magnetic resonance imaging revealed a 17 × 20 mm nodular lesion adjacent to the cervical segment of the internal carotid artery. Surgical excision was scheduled due to suspicion of a neurogenic tumor. RESULTS: Intraoperatively, despite careful handling, cerebrospinal fluid leakage was observed. Manipulation of the mass caused detachment of proximal nerve fibers, potentially indicating avulsion of the hypoglossal nerve from the brainstem or nearby. Clear fluid leakage from the skull base was also noted. CONCLUSION: Thorough preoperative evaluation and patient education regarding potential complications are crucial. This article presents an unexpected complication encountered during surgical excision of extracranial hypoglossal schwannoma, emphasizing the need for awareness and preparedness in such cases.

Operative management of trigeminal schwannomas: based on a modified classification in a study of 93 cases.

BACKGROUND: Advances in microscopic and endoscopic surgical techniques have outpaced traditional classification and transcranial surgical strategies, especially with reference to the treatment of trigeminal schwannomas (TSs). A modified TS classification is proposed and appropriate surgical strategies are discussed. METHODS: The cases of 93 patients who underwent surgical treatment in Beijing Tiantan Hospital in the previous 6 years were analyzed retrospectively, and a literature review was conducted. RESULTS: Classification is based on surgical direction. Tumors were classified as follows: type A, backward orientation, located in the orbit or orbit and middle cranial fossa (8 cases, 8.6%); type B, upward orientation, located in the pterygopalatine fossa, infratemporal fossa or pterygopalatine fossa, infratemporal fossa, and middle cranial fossa (23 cases, 24.7%); type C, forward and backward orientations, located in the middle cranial fossa, posterior cranial fossa or both (58 cases, 62.4%); and type D, located in multiple regions (4 cases, 4.3%). 91.40% of patients underwent gross total resection (GTR) with 29 cases receiving endoscopic resection of whom 93.10% (27/29) experienced GTR. CONCLUSION: The 93 cases were satisfactorily divided into four types, according to tumor location and surgical orientation, enabling safe and effective removal by appropriate surgery.

What is new in intraneural perineurioma?

Since the initial description of intraneural (IN) perineurioma in 1964, advances in the understanding of the clinical presentation, diagnostic imaging, pathologic features, and genetic underpinnings have changed how this pathology is managed. IN perineuriomas are rare, benign peripheral nerve sheath tumors, most frequently coming to clinical attention when patients present with painless, progressive weakness or sensory loss in adolescence or young adulthood. The gold standard of diagnosis has traditionally been with targeted tissue biopsy demonstrating "pseudo-onion bulb" formation with positive epithelial membrane antigen (EMA) staining. However, modern magnetic resonance imaging is allowing some patients to forgo biopsy. Recent genetic studies of IN perineuriomas have demonstrated common TRAF7 point mutations and rare NF2 mutations, which may present targets for diagnosis or therapy in the future. Current advances have allowed for us to provide improved patient counseling with informed understanding for various clinical scenarios. With the workup and diagnosis now clearly defined, the next frontier is for improving the lives of patients with IN perineuriomas through the interaction between restoration of functional deficits and advances in our understanding of the genetics of this entity.