Search

Neurofibromatosis Type I (NF1) is a rare genetic disorder. NF1 patients frequently develop a benign tumor in peripheral nerve plexuses called plexiform neurofibroma. In the past two decades, tissue-specific Nf1 knockout mouse models were developed using commercially available tissue-specific Cre recombinase and the Nf1 flox mice to mimic neurofibroma development. However, these models develop para-spinal neurofibroma, recapitulating a rare type of neurofibroma found in NF1 patients. The NPcis mouse model developed a malignant version of neurofibroma called malignant peripheral nerve sheath tumor (MPNST) within 3 to 6 months but intriguingly without apparent benign precursor lesion. Here, we revisited the NPcis model and discovered that about 20% display clinical signs similar to Nf1 tissue-specific knockout mice models. However, a systematic histological analysis could not explain the clinical signs we observed although we noticed lesions reminiscent of a neurofibroma in a peripheral nerve, a cutaneous neurofibroma, and para-spinal neurofibroma on rare occasions in NPcis mice. We also observed that 10% of the mice developed a malignant peripheral nerve sheath tumor (MPNST) spontaneously, coinciding with their earring tag identification. Strikingly, half of the sciatic nerves from NPcis mice developed plexiform neurofibroma within 1–6 months when intentionally injured. Thus, we provided a procedure to turn the widely used NPcis sarcoma model into a model recapitulating plexiform neurofibroma. [ABSTRACT FROM AUTHOR]

Background: Samii Type-D jugular foramen schwannomas (JFSs) are the most challenging for neurosurgeons because of anatomical complexity. Various neurosurgical approaches have been described to gain access to JF. Methods: We present a female with incidental diagnosis of the Type-D JFS. Complete radical resection was achieved via the carotid triangle approach without any bony structure removal. And the patient was discharged asymptomatic and without new-developed neurological deficits. Conclusions: The carotid triangle is a secure and appropriate approach for some cases of selected Type-D JFSs. However, the specific indications of this approach should be further explored and investigated. [ABSTRACT FROM AUTHOR]

Preoperative hearing function shows wide variations among patients diagnosed with vestibular schwannoma. Besides the preoperative tumor size there are other factors that influence the preoperative hearing function that are frequently discussed. A comprehensive analysis of a large cohort of vestibular schwannomas has the potential to describe new insights and influence the preoperative management. We analyzed clinical factors, imaging data and the expression of the proliferation marker MIB1 as potential influencing factors on the preoperative hearing function in a retrospective cohort of 523 primary sporadic vestibular schwannomas. The results of the preoperative audiometry were quantified using the Gardner-Robertson Score. Uni- and multivariate analyses were performed. Serviceable hearing (Gardner-Robertson class 1 or 2) was documented in 391 patients (74.8%). Factors associated with non-serviceable hearing (Gardner-Robertson class 3–5) were patients of older age (p < 0.0001), larger preoperative tumor volume (p = 0.0013) and widening of the internal acoustic meatus compared to the healthy side (p = 0.0353). Gender and differences in the expression of the proliferation marker MIB1 had no influence on preoperative hearing. In the multivariate nominal logistic regression older age (OR 27.60 (CI 9.17–87.18), p < 0.0001), larger preoperative tumor volume (OR 20.20 (CI 3.43–128.58), p = 0.0011) and widening of the internal acoustic canal (OR 7.86 (CI 1.77–35.46), p = 0.0079) remained independent factors associated with non-serviceable hearing. Widening of the internal acoustic canal is an independent factor for non-serviceable preoperative hearing in vestibular schwannoma patients together with older age and larger preoperative tumor volume. [ABSTRACT FROM AUTHOR]

Oculomotor nerve schwannoma in children not associated with neurofibromatosis is a rare disease, with 26 pediatric cases reported so far. There is no established treatment plan. A 7-year-old girl presented with oculomotor nerve palsy. Surgical reduction of the tumor combined with postoperative gamma knife surgery preserved the oculomotor nerve, improved oculomotor nerve function, and achieved tumor control during the observation period of 20 months. The combination of partial surgical resection and gamma knife surgery as a treatment strategy for oculomotor nerve schwannoma resulted in a good outcome. [ABSTRACT FROM AUTHOR]

This document provides a summary of several research articles on various topics related to cancer treatment. The articles discuss the importance of precision medicine and personalized treatments in addressing the complexity of cancer. They explore topics such as targeted radiotherapy combined with immunotherapy, the potential of annexin A5 in drug delivery and diagnostics, advancements in targeted therapies for lung, colorectal, and prostate cancers, the role of FOXM1 in malignant peripheral nerve sheath tumors, and new therapeutic approaches for urothelial carcinoma. The document emphasizes the collaborative nature of cancer research and the goal of developing personalized treatments. [Extracted from the article]

Background: In most cases, intralabyrinthine schwannoma (ILS) occurs in patients with unilateral hearing deterioration or neurofibromatosis type II (NF II). The pattern of localization of these tumors varies but mostly affects the cochlea. Extirpation of the cochlear schwannoma, if hidden by the cochlea modiolus, is difficult under the aspect of complete removal. Therefore, a tissue removal device (TRD) was designed and tested in temporal bones. The principle of handling the new device is a pushing and pipe cleaner handling inside the cochlea. This present study aimed to describe the first in vivo experience with the newly developed TRD for removing cochlear intralabyrinthine schwannomas. Methods: In three patients, the TRD was used for the tumor removal of cochlear schwannomas. In two patients with a cochlear schwannoma in combination with a cochlea implantation and one patient suffering from NF II, a cochlear schwannoma was removed with the TRD. The access was performed with a posterior tympanotomy, an enlarged round window approach and an additional second turn access. The device was inserted and extracted gradually from the second turn access until the rings were visible in the second turn access. By pushing and pipe cleaner handling, the tumors were removed. An MRI control was performed on the day postoperatively with a T1 GAD sequence. Results: Tumor removal with the TRD was performed in a 15-min procedure without any complications. An MRI control confirmed complete removal on the postoperative day in all cases. Conclusions: In vivo handling of the device confirmed straightforward handling for the tumor removal. MRI scanning showed complete removal of the tumor by the TRD. [ABSTRACT FROM AUTHOR]

Objectives: Simultaneous removal and cochlear implantation (CI) have been reported in intralabyrinthine and intracochlear schwannoma. A wide range of postoperative hearing outcomes have been reported after CI in these cases. This study evaluated the outcomes of performing a simultaneous resection of Schwannoma in cochlea and cochlear implantation (CI), aiming to assess the effectiveness of this combined surgical approach for hearing rehabilitation with CI. Methods: This retrospective case series was conducted at a tertiary care center. The study included four consecutive patients with profound sensorineural hearing loss due to a mass inside the cochlea. These patients underwent simultaneous single-sided CI and tumor resection performed by the same surgeon. Preoperative and postoperative audiological assessments were conducted to evaluate the patients' hearing outcomes before and after the surgical intervention. Results: Simultaneous CI with tumor resection was successful in all cases. Two of the four patients had a unilateral tumor, while the other two had a bilateral tumor with the involvement of the internal auditory canal and cerebellopontine angle (neurofibromatosis type 2 (NF2)). In two cases of unilateral tumor, aided free-field pure tone average (PTA) was 26 dB, and 46 dB hearing level (HL), and word recognition score (WRS) at 65 dB was 40% and 68%, respectively, 3 months after surgery. In two cases of tumor with NF2, aided free-field PTA was 36 dB and 60 dB HL, and both cases showed 0% WRS at 65 dB 3 months after surgery. Conclusions: Simultaneous schwannoma excision and CI in patients with Schwannoma inside cochlea are surgically practical and safe. Postoperatively, there was a notable improvement in hearing in cases of sporadic schwannoma, regardless of the type of CI used. However, there was 0% WRS in the two NF2 patients with a mass in the internal auditory canal. [ABSTRACT FROM AUTHOR]

Simple Summary: The hallmark of NF2 is bilateral vestibular schwannomas, which progressively enlarge, leading to sensorineural hearing loss, tinnitus, facial weakness, and pain that translates to social impairment and clinical depression. To better understand disease progression and characterize treatment response, we developed a panel of five tests suitable for the mouse vestibular schwannoma model and investigated how tumor growth and treatment affect gait, coordination, and motor function. These methods, paired with hearing tests, enable a comprehensive evaluation of tumor-induced neurological deficits and facilitate the assessment of the effectiveness of novel therapeutics to improve NF2 treatments. NF2-related Schwannomatosis (NF2-SWN) is a disease that needs new solutions. The hallmark of NF2-SWN, a dominantly inherited neoplasia syndrome, is bilateral vestibular schwannomas (VSs), which progressively enlarge, leading to sensorineural hearing loss, tinnitus, facial weakness, and pain that translates to social impairment and clinical depression. Standard treatments for growing VSs include surgery and radiation therapy (RT); however, both carry the risk of further nerve damage that can result in deafness and facial palsy. The resultant suffering and debility, in combination with the paucity of therapeutic options, make the effective treatment of NF2-SWN a major unmet medical need. A better understanding of these mechanisms is essential to developing novel therapeutic targets to control tumor growth and improve patients' quality of life. Previously, we developed the first orthotopic cerebellopontine angle mouse model of VSs, which faithfully mimics tumor-induced hearing loss. In this model, we observed that mice exhibit symptoms of ataxia and vestibular dysfunction. Therefore, we further developed a panel of five tests suitable for the mouse VS model and investigated how tumor growth and treatment affect gait, coordination, and motor function. Using this panel of ataxia tests, we demonstrated that both ataxia and motor function deteriorated concomitantly with tumor progression. We further demonstrated that (i) treatment with anti-VEGF resulted in tumor size reduction, mitigated ataxia, and improved rotarod performance; (ii) treatment with crizotinib stabilized tumor growth and led to improvements in both ataxia and rotarod performance; and (iii) treatment with losartan did not impact tumor growth nor ameliorate ataxia or motor function. Our studies demonstrated that these methods, paired with hearing tests, enable a comprehensive evaluation of tumor-induced neurological deficits and facilitate the assessment of the effectiveness of novel therapeutics to improve NF2 treatments. [ABSTRACT FROM AUTHOR]

Background: Trigeminal schwannoma is a rare type of tumor that arises from the Schwann cells of the trigeminal nerve. Method: We present a case of a patient with a giant V2 trigeminal schwannoma with painful swelling in the left maxilla. A complete resection using a combined open maxillectomy and endoscopic endonasal approach was performed. Conclusion: This case highlights the importance of a multidisciplinary approach to perform a combined open and endoscopic approach for safe resection while preserving adequate speech and swallowing. [ABSTRACT FROM AUTHOR]

The purpose is to clarify the safety and clinical contribution of computed tomography (CT)-guided percutaneous needle-biopsy for patients with cervical spine lesion. Between June 2015 and August 2022, CT-guided percutaneous needle biopsies were performed for 15 cervical spine lesions of 15 patients (8 male, 7 female; 2–81 years old). The technical success, clinical contribution, and safety were evaluated. Technical success was defined as the completion of the biopsy procedure. Clinical contribution was defined as any contribution to the therapeutic strategy. Safety was assessed by the Common Terminology Criteria for Adverse Events, version 5.0. The technical success rate was 100%. In all 15 patients, nontarget organs (e.g., major vessels, spinal cord) could be avoided. The post-biopsy histological diagnoses were myeloma (n = 2), metastatic adenocarcinoma (n = 2), chordoma (n = 2), Langerhans cell histiocytosis (n = 3), and one case each of malignant lymphoma, schwannoma, pyogenic spondylitis, non-pyogenic spondylitis, degenerative change, and non-pathological fracture. All of these diagnoses contributed to the therapeutic strategy decisions. One case of grade 2 pain was observed, but no complications with grade 3 or more were observed during or after the biopsies. CT-guided percutaneous needle biopsies for cervical spine lesions were safe and clinically beneficial. [ABSTRACT FROM AUTHOR]

Ancient schwannoma is a variant of schwannoma characterized by slow progression, degenerative changes, and a higher incidence in older adults. There have been two prior reported cases of ancient schwannoma arising from the distal ulnar nerve at the wrist level, but neither were longstanding or very large. Herein, we report an ancient schwannoma found in the ulnar nerve of the distal forearm that was found to be clinically meaningful in size. A 61-year-old man presented with complaints of tingling sensation of the fourth and fifth fingers and bulging of the ulnar side of the wrist. The patient reported that the mass in his wrist had grown very slowly, starting about 10 years ago, and that he had started experiencing a tingling sensation in his fourth and fifth fingers about 3 years prior, which had become worse in the past year. Based on the results of the preoperative examination, a benign nerve sheath tumor was suspected. As it was thought that the possibility of malignancy was not high, we elected to perform a marginal excision. Pathological examination confirmed ancient schwannoma. At his most recent visit, 3 years after surgery, he reported no recurrence and that he felt better than before surgery, but some tingling sensations remained. As with small ancient schwannoma in the distal wrist, most cases of large ancient schwannoma can be treated without special complications based on an accurate preoperative diagnosis. [ABSTRACT FROM AUTHOR]

Schwannomas are benign peripheral nerve sheath tumors arising from myelinating Schwann cells. Although macrocystic changes are regularly encountered in schwannoma variants such as vestibular nerve tumors, they are exceedingly rare among spinal neoplasms. Case report and systematic review of 4 databases (Ovid Medline, PubMed, Science Direct, and SCOPUS) from inception to present. All peer-reviewed publications reporting intradural cystic thoracic schwannoma were included. We identified 8 publications documenting 9 cases of cystic thoracic schwannoma. Four were female, 5 male; median age was 41 years (range, 27–80). Presentations ranged from incidental to pain, sensory changes, lower extremity paresis, or bowel/bladder dysfunction. Characteristic radiographic findings included T1 hypointensity, T2 hyperintensity, and cord effacement or compression. The present case followed a similar pattern: a 52-year-old male presented with worsening bilateral lower extremity weakness, low back pain, and gait dysfunction, worsening over 3 days. Examination also revealed decreased left lower extremity sensation. Imaging identified a well-delineated intradural, extramedullary macrocystic extending over T7-T10. The patient underwent a laminectomy resulting in complete tumor resection and restoration of intact neurologic function. Final pathology confirmed benign cystic schwannoma. Macrocystic thoracic schwannomas are exceedingly rare and lack a comprehensive scheme for clinical classification of their natural history and pathogenesis. We report the 10th case of such a schwannoma, and the first associated systematic review. Although macrocystic thoracic schwannomas are not frequently encountered, accurate diagnosis and appropriate neurosurgical treatment is critical in these vulnerable patients, given the opportunity for excellent functional outcomes following neurosurgical treatment. [Display omitted] [ABSTRACT FROM AUTHOR]

Introduction Trigeminal schwannoma surgery has shown a remarkable improvement in functional recovery and tumor resection. In the era of radiosurgery, these outcomes need to be characterized for tumors which are outside the realm of being treated with radiosurgery. We present a series of trigeminal schwannomas larger than 3 cm, surgical approaches used, and outcomes with an emphasis on functional recovery in a high-volume center with radiosurgery facilities. Method All consecutive cases of trigeminal schwannoma from January 2012 to May 2021 which were more than 3 cm in size and underwent microsurgery were included in this series. The surgical approach, neurological outcomes, and extent of resection were defined objectively with pre/postoperative magnetic resonance imaging. Results A total of 83 such cases (>3 cm) were found, with cranial nerve symptoms (5th most common) being the commonest. Twenty three percent cases had blindness due to secondary optic atrophy and eighteen percent had long tract motor symptoms signifying the tumor burden in our series. Radiological gross total excision was achieved in 75.9% cases. Conclusion Large-volume schwannomas present with cranial nerve involvement and may need extensive skull base approaches. Functional outcomes need to be prioritized and can be achieved albeit with lesser gross resection rates. Hearing and facial preservation in addition to relief of trigeminal symptoms should be the goal of resection with minimal additional morbidity. [ABSTRACT FROM AUTHOR]

Background: Benign peripheral nerve sheath tumors (BPNSTs) include schwannomas and neurofibromas. About 10% of soft tissue sarcomas are malignant peripheral nerve sheath tumors (MPNSTs), which are invasive and aggressive tumors. These can happen occasionally or after radiation exposure. Up to 90% of schwannomas are made up of differentiated neoplastic Schwann cells. Malignant transformation of schwannomas is rare. Methods: We collected the medical records of all patients (including their family histories), performed comprehensive physical and neurological assessments, and checked for the presence of a Tinel-like sign, as well as screening for neurofibromatosis (NF) signs. Magnetic resonance imaging (MRI), nerve conduction studies, and ultrasound were done for all cases. Results: We have operated on 21 patients with age range 29–52 years. The mean age was 39.4 years. 14 of these patients were females and 7 were males. The presenting symptoms were just swelling at nerve site in 14 patients, spontaneous pain at the nerve sites in 7 patients, and sensory deficit at the nerve distribution sites in 9 patients. The other 12 patients were sensory intact and only 7 patients had motor deficit. Postoperatively all patients had improved motor and sensory deficit and none of intact patients were worsened. Preoperatively we did MRI to show important nearby vascular structure anatomical abnormalities and we ordered nerve studies to all patients that showed abnormalities, which was only in 9 patients. Gross total resection was done in 18 patients and other 3 cases had partial resection to avoid sensory and motor deficits. The pathological analysis revealed 11 schwannomas and 10 neurofibromas. With 1 year follow up there was no recurrence in any patients. Conclusion: Benign pheripheral nerve sheath tumours are safely resected without increased sensory and motor deficits after surgery and with improve clinical outcome with no recurrence on follow up. [ABSTRACT FROM AUTHOR]

Background: Aside from the rarity of mobile spinal schwannomas, the coexistence of these tumors with herniated intervertebral disc is also scarce. Furthermore, cauda equina syndrome (CES), as a manifestation of intraspinal schwannomas has been reported rarely. Described here is a case of simultaneous lumbar disc bulge and mobile spinal schwannoma presented with intermittent symptoms of CES. Case Report: A 62-year-old man presented with severe but intermittent leg pain for 2 weeks, which later progressed to an episode of lower extremity weakness and difficulty in urination. Magnetic resonance imaging revealed an intraspinal tumor that moved in position relative to the L1-2 disc bulge on scans 6 h apart, with associated spontaneous regression in symptoms. The tumor was found to be a mobile spinal schwannoma, originated from a nerve root. A standard microdissection technique was used to remove the tumor through a spinous processsparing unilateral approach, with complete laminectomy of L1. Use of intraoperative ultrasound facilitated the accurate tumor localization. Postoperatively, the patient no longer had symptoms. Conclusions: This report presents a combination of a common spinal pathology, intervertebral disc herniation, alongside a rare condition, mobile spinal schwannoma, whose uncommon clinical manifestations, such as CES can cause irreversible neurological deficits. Surgeons need to remain vigilant of potential atypical scenarios when treating patients. Surgical treatment challenges regarding the mobility of tumors, such as accurate localization, should be addressed using intraoperative imaging to avoid wrong-level surgery. To mitigate the irreversible neurological complications, patients should receive comprehensive information for alarming signs of CES. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Schwannomas are tumors that arise from Schwann cells that surround and support nerve cells. Most common sites for presentations are head, neck, and extremities. Schwannomas of gastrointestinal tract are rare, slowgrowing tumors, usually benign, arising from gastrointestinal tract's neural plexus. They are histologically distinguishable from conventional schwannomas that arise in soft tissue or the central nervous system. Preoperative diagnosis of gastrointestinal schwannoma is challenging, requiring immunohistological confirmation of the nature of the tumor. Here, we report a case of 57-year-old woman with an incidental finding of an asymptomatic submucosal jejunal schwannoma. Case Report: A 57-year-old woman with a medical history of hematological disorder underwent a contrast abdominal computed tomography as part of medical follow-up. The imaging revealed the presence of a jejunal mass. The patient underwent laparoscopic surgical resection of the lesion, followed by side-to-side jejuno-jejunal anastomosis with 4-cm clear surgical margins. The final pathologic study revealed the presence of jejunal schwannoma, as tested positive for S-100 protein. The patient was discharged home on the fourth postoperative day, having an uneventful recovery. Conclusions: Jejunal schwannoma are usually benign and asymptomatic, and they are often discovered incidentally during diagnostic tests for other conditions; therefore, it should be included in the differential diagnosis of gastrointestinal tumors. Surgical treatment appears to be necessary to achieve a definitive diagnosis through a biopsy of the tumor tissue. Benign jejunal schwannomas have a good prognosis. [ABSTRACT FROM AUTHOR]

Laryngeal schwannoma is a rare benign nerve sheath tumor that is slow growing. The diagnosis is made from a combination of clinical, radiological, and histopathological findings, and the main method of treatment is resection. We report a case of a 69-year-old presenting with a neck mass causing stridor, dysphagia, and orthopnea. CT of the neck showed an enhancing mass measuring 6.3 cm and extending superior to the larynx. Emergent tracheostomy and mass resection were performed, and histopathology and immunohistochemical findings were obtained from the specimen supporting schwannoma. In conclusion, while rare, schwannoma should always be considered as a differential diagnosis for a laryngeal mass. More studies are needed to assess the size and prognosis of the tumor. [ABSTRACT FROM AUTHOR]

This document is a comment on a case report and literature review titled "Primary Pericardial Synovial Sarcoma" published in the journal Diagnostics. The authors discuss the diagnosis and imaging of synovial sarcoma (SS), a rare type of spindle cell sarcoma. They highlight the importance of pathology and imaging for precise diagnosis, as well as the limitations of fluorescence in situ hybridization (FISH) in confirming the diagnosis. The authors also introduce other diagnostic tools, such as immunohistochemistry (IHC) using SS18-SSX and SSX antibodies, and molecular confirmation using methods like RNA sequencing and fragment analysis. They emphasize the need for a variety of diagnostic approaches in cases of rare cancers and sarcomas. [Extracted from the article]

Simple Summary: Spinal schwannomas are the second most common primary intradural spinal tumor. Although these tumors are histologically benign, they can cause spinal cord compression with acute or chronic neurological deficits. Health-related quality of life (HRQoL) can be described as quality of life relative to a person's health or disease status and HRQoL measures may therefore be considered as measures of self-perceived status. Despite the fact that some studies have evaluated the neurological outcomes after surgery for spinal schwannomas, no studies have been conducted on HRQoL and return to work after surgery. In this population-based cohort study, 94 cases of surgically treated spinal schwannomas were followed for a median 7.3 years [4.8–10.6] to assess their HRQoL compared to a sample of the general population. We found that HRQoL was equal between the spinal schwannoma sample and the general population sample in all but one dimension; men in the spinal schwannoma sample reported more moderate problems in the usual activities dimension than men in the general population. The frequency of return to work was 94%. Thus, surgery of spinal schwannomas should be considered a safe procedure with good long-term HRQoL. Spinal schwannomas are the second most common primary intradural spinal tumor. This study aimed to assess health-related quality of life (HRQoL) and the frequency of return to work after the surgical treatment of spinal schwannomas. HRQoL was compared to a sample of the general population. Patients operated for spinal schwannomas between 2006 and 2020 were identified in a previous study and those alive at follow-up (171 of 180) were asked to participate. Ninety-four (56%) responded and were included in this study. Data were compared to the Stockholm Public Health Survey 2006, a cross-sectional survey of a representative sample of the general population. An analysis for any potential non-response bias was performed and showed no significant differences between the groups. HRQoL was equal between the spinal schwannoma sample and the general population sample in all but one dimension; men in the spinal schwannoma sample reported more moderate problems in the usual activities dimension than men in the general population (p = 0.020). In the schwannoma sample, there were no significant differences between men and women in either of the dimensions EQ-5Dindex or EQVAS. Before surgery, a total of 71 (76%) were working full-time and after surgery almost all (94%) returned to work, most of them within 3 months of surgery. Eighty-nine (95%) of the patients responded that they would accept the surgery for their spinal schwannoma if asked again today. To conclude, surgical treatment of spinal schwannomas is associated with good HRQoL and with a high frequency of return to work. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene that encodes neurofibromin, a RAS GTPase-activating protein. Inactivating NF1 mutations cause hyperactivation of RAS-mediated signaling, resulting in the development of multiple neoplasms, including malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are an aggressive tumor and the main cause of mortality in patients with NF1. MPNSTs are difficult to resect and refractory to chemo- and radiotherapy, and no molecular therapies currently exist. Immune checkpoint blockade (ICB) is an approach to treat inoperable, undruggable cancers like MPNST, but successful outcomes require an immune cell-rich tumor microenvironment. While MPNSTs are noninflamed "cold" tumors, here, we converted MPNSTs into T cell-inflamed "hot" tumors by activating stimulator of IFN genes (STING) signaling. Mouse genetic and human xenograft MPNST models treated with a STING agonist plus ICB exhibited growth delay via increased apoptotic cell death. This strategy offers a potential treatment regimen for MPNSTs. [ABSTRACT FROM AUTHOR]

We report a case of paravertebral retroperitoneal ancient schwannoma (RPAS) with symptoms suggestive of irritable bowel syndrome that was relieved after resection. Very few cases have been reported of RPAS with gastrointestinal symptoms. Increased bowel activity associated with RPAS has not been reported. Our case report suggests that RPAS may present with increased bowel frequency that could be relieved after surgical resection. [ABSTRACT FROM AUTHOR]

Concurrent occurrence of schwannoma and meningiomas are rare, and are found especially in association with neurofibromatosis type 2 (NF2). Occurrence of mixed tumor without the aforementioned conditions is extremely rare. We present three cases of mixed tumor in different locations, including two with NF2 and one without NF2. We analyse the relationship of mixed tumor with NF2 and its clinical implications. Presence of mixed schwannoma–meningioma should prompt screening for NF2. Thus aids in early diagnosis of unsuspected NF2 cases. We observed that irrespective of different locations, cases with NF2 showed frequent recurrence of schwannoma as compared to case who did not fit in the existing clinical criteria for NF2. Collision tumor and thereby NF2 mutations indicates the prognosis and recurrence of the tumor, thereby guides in deciding the management. [ABSTRACT FROM AUTHOR]

Background. Spindle cell/sclerosing rhabdomyosarcoma is a rare neoplasm and has an aggressive clinical course. Because of its rarity, we performed a multi-institutional collaboration to comprehend the overarching clinical, histopathological, and immunohistochemical characteristics of a cohort of spindle cell/sclerosing rhabdomyosarcoma. Materials and Methods. Forty-five patients with spindle cell/sclerosing rhabdomyosarcoma were identified. Demographics, clinical, histopathological, and immunohistochemistry data were reviewed and recorded. Results. The patients' age ranged from 1 to 85 years with a male to female ratio of 1.2:1. There were 15 children/adolescents and 30 adults. Eighteen (40%) tumors were located in the head and neck region. Twenty-four (53%) tumors displayed a bimorphic cellular arrangement with hypercellular areas having short, long, and sweeping fascicular and herringbone pattern, and hypocellular areas with stromal sclerosis and associated hyalinized and/or chondromyxoid matrix. Histomorphological differentials considered were leiomyosarcoma, malignant peripheral nerve sheath tumor, fibrosarcoma, nodular fasciitis, liposarcoma, synovial sarcoma, sarcomatoid carcinoma, solitary fibrous tumor, dermatofibrosarcoma protuberans, and schwannoma. Six tumors exhibited marked stromal sclerosis. The myogenic nature was confirmed by immunohistochemistry. Positivity for at least one skeletal muscle-associated marker (MyoD1 and/or myogenin) was observed. Conclusion. Spindle cell/sclerosing rhabdomyosarcoma diagnosis can be challenging as a number of malignant spindle cell neoplasm mimic this entity. Thus a correct diagnosis requires immunohistochemical work up with a broad panel of antibodies. In view of rarity of this neoplasm, further studies on a large cohort of patients with clinical follow-up data are needed for a better understanding of this tumor. [ABSTRACT FROM AUTHOR]

This document is a collection of abstracts from the ANZ Journal of Surgery, covering various topics related to otolaryngology, head and neck surgery, and related conditions. The abstracts provide information on factors associated with facial nerve sacrifice in patients with metastatic parotid cutaneous squamous cell carcinoma, outcomes of balloon eustachian tuboplasty in pediatric patients, hospital admissions for acute sinusitis in the pediatric population, complications related to percutaneous and surgical tracheostomy, outcomes in second primary head and neck malignancy, and surgical management of adult subglottic and tracheal stenosis. The abstracts present findings from retrospective studies and provide insights into the prevalence, risk factors, treatment outcomes, and complications associated with these conditions. The article also includes several case studies and reviews on various head and neck conditions, such as retropharyngeal infections, cochlear implants, congenital hearing loss, adenoid cystic carcinoma, conchal defects, nasal masses, facial nerve schwannoma, intra-parotid facial schwannomas, extramedullary plasmacytoma, chyle leaks, sphenoid mycetoma, juvenile nasopharyngeal angiofibroma, PET/CT in head and neck cancers, and tonsillar schwannoma. [Extracted from the article]

This article discusses the cytomorphology of metastatic malignant peripheral nerve sheath tumor (MPNST) in pleural fluid. The author presents a case study of a 64-year-old male with MPNST in pleural effusion, describing the detailed cytopathological and immunohistochemical characteristics of the tumor. The article emphasizes the importance of evaluating clinical history and utilizing ancillary studies to ensure accurate cytological diagnoses. The study contributes to the limited understanding of the cytomorphology of MPNST in metastatic cases. [Extracted from the article]

Introduction/Purpose: For gastric subepithelial lesions (GSELs) showing a hypoechoic mass (HM) on endoscopic ultrasonography (EUS) imaging, the utility of EUS‐guided tissue acquisition using conventional fine‐needle aspiration needles (EUS‐TA‐CFNAN) and the frequency of histological types remain unclear. This study aimed to examine this issue. Methods: This prospective observational study enrolled 291 consecutive patients who underwent EUS‐TA‐CFNAN for GSELs showing an HM (GSELHM) on EUS imaging. Immunohistochemical analysis was performed for all EUS‐TA‐CFNAN and surgically resected specimens. The main outcome measures were the technical results of EUS‐TA‐CFNAN and the frequency of histological types in GSELHM. Results: The endoscopic ultrasound‐guided tissue acquisition using conventional fine‐needle aspiration needle diagnosis rate for GSELHM was 80.1% (95% confidence interval [CI]: 75.0–84.5, 233/291). It was significantly lower for antrum (P = 0.004) and lesions smaller than 2 cm (P = 0.003). There were no adverse events. The immunohistochemical diagnoses of EUS‐TA‐CFNAN included 149 cases of gastrointestinal stromal tumour (GIST) (51.2%), 48 cases of leiomyoma (16.5%), 11 cases of schwannoma (3.8%), 8 cases of the ectopic pancreas (2.7%), 5 cases of subepithelial lesion like cancer (1.7%), 12 cases of other lesions (4.1%), and 58 cases of undiagnosable lesions (19.9%). The frequency of malignant or potentially malignant tumour in GSELHM was 55.0% (95% CI: 49.1–60.8, 160/291). Surgery was performed in 149 patients according to the conclusive EUS‐TA‐CFNAN results, in which the diagnostic accuracy of EUS‐TA‐CFNAN was 97.3% (95% CI: 94.7–99.9, 145/149). Conclusion: The use of EUS‐TA‐CFNAN for GSELHMs is safe and accurate. Gastric subepithelial lesions showing a hypoechoic mass have a reasonably high possibility of containing malignant or potentially malignant tumours, including GISTs. [ABSTRACT FROM AUTHOR]

Primary tracheal tumours are extremely rare, that originate from Schwann cells. We report a case of a primary tracheal schwannoma. A 60‐year‐old male who presented with noisy breathing, shortness of breath, and blood streaked phlegm. Chest CT scan showed an endotracheal mass which was resected bronchoscopically using Rigid bronchoscopy, electrocautery snare and cryoextraction. Biopsy confirmed the diagnosis of schwannoma. [ABSTRACT FROM AUTHOR]

Schwannoma in the popliteal fossa is still rare, often diagnosed late because it grows slowly and has no symptoms. It is often misdiagnosed with connective tissue tumors or with neurological disorders originating in the spine or disorders of the peroneal nerve. Schwannoma within the common peroneal nerve is still rare in the popliteal fossa, with most tumor sizes around 2 cm in diameter due to their smaller size of nerve but can cause neurologic disturbance, especially when it is large. And over a long time, it can cause serious complaints like neurological deficits and make surgery difficult by leaving greater sequelae. There is no data yet showing the incidence of schwannoma in the common peroneal nerve. In this case, a 36-year-old woman, for 5 years, feels soreness in the popliteal fossa and pain in the right instep, suspected that a nerve was pinched, due to an abnormality in the spine. As time went on, there was a lump in the fold of the right knee, suspected to be a Baker's cyst. As time went by, the complaint was burning pain in the right instep to the lateral ankle and distal right lower leg, disturbing sleep. Tinel's sign was positive. The right instep has hypoesthesia and a slight drop in the foot. On radiological examination of the right knee, a circumferential mass appeared, measuring 5 cm × 4 cm. The diagnosis is suspicious for a common peroneal nerve tumor. The encapsulated operation to remove the tumor was carried out with a size measuring 5 cm × 4.5 cm × 4 cm. The histopathological examination showed schwannoma. After surgery, the pain disappeared, hypoesthesia and a slight drop in the foot underwent physiotherapy, and stimulation with the result gradually improved. A thorough early examination includes correct and systematic anamnesis, physical examination, and neurological evaluation such as paraesthesia, hypoesthesia, and Tinel's sign; also, additional examinations, such as radiographic, ultrasound, and MRI, are needed for early detection of schwannoma so that delays in diagnosis and surgery can be avoided to prevent neurological deficits. [ABSTRACT FROM AUTHOR]

Cellular schwannoma (CS) is a rare tumor that accounts for 2.8%–5.2% of all benign schwannomas. There is a dearth of up-to-date information on spinal CS in the literature. The aims of this study were to identify the proportion of CS cases amongst spinal benign schwannoma, describe the clinical features of spinal CS, and identify prognostic factors for local recurrence by analyzing data from 93 consecutive CS cases. Retrospective review. We analyzed 93 PSGCT screened from 1,706 patients with spine CS who were treated at our institute between 2008 and 2021. Demographic, radiographic, operative and postoperative data were recorded and analyzed. We compared the clinical features of spinal CS from the cervical, thoracic, lumbar and sacral segments. Prognostic factors for local recurrence-free survival (RFS) were identified by the Kaplan-Meier method. Factors with p≤.05 in univariate analysis were subjected to multivariate analysis by Cox regression analysis. The proportion of spinal CS in all benign schwannomas was 6.7%. The mean and median follow-up times for the 93 patients in this study were 92.2 and 91.0 months respectively (range 36–182 months). Local recurrence was detected in 11 cases, giving an overall recurrence rate of 11.7%, with one patient death. Statistical analysis revealed that tumor size ≥5 cm, intralesional resection, and Ki-67 ≥5% were independent negative prognostic factors for RFS in spinal CS. Whenever possible, en bloc resection is recommended for spinal CS. Long-term follow-up should be carried out for patients with tumor size ≥5 cm and postoperative pathological Ki-67 ≥5%. [ABSTRACT FROM AUTHOR]

Intramedullary schwannoma is a relatively rare tumor with only a few literature reports. This study was aimed to report the clinical characteristics of intramedullary schwannoma and discuss imaging findings and treatment strategies. The inclusion criterion was consecutive patients with intramedullary schwannomas who were surgically treated in our institution between 2017 and 2022. Data included clinical characteristics, radiologic features, surgical management, and prognosis. Clinical and follow-up details of all cases were collected and reviewed. This study included 3 male and 8 female patients. The mean age was 45 years (range 26–77 years). Cervical spine (4 cases, 36.4%), thoracic spine (4 cases, 36.4%), and lumbosacral spine (3 cases, 27.3%) involvement was found. Weakness, numbness and pain of limbs were the main symptoms at administration. Preoperative magnetic resonance imaging demonstrated lesion with spinal cord medullary invasion and well demarcated margins. The postoperative histologic examination showed benign lesions and confirmed the schwannoma. This article presented a series of 11 cases of intramedullary schwannoma with sharp margins and well-enhanced features. Prognosis and functional recovery were good after gross total resection. [ABSTRACT FROM AUTHOR]

This study aims to determine the prevalence of vestibular schwannoma (VS) among patients presenting with sudden hearing loss (SHL) and to characterize the clinical features of individuals diagnosed with both VS and SHL. We conducted an observational retrospective review at a tertiary referral center, spanning a 30-year period, focusing on patients diagnosed with SHL where VS was confirmed as the underlying cause. We included patients meeting these criteria while excluding those lacking imaging or with a pre-existing diagnosis of VS. We evaluated the audiological characteristics at the time of diagnosis and assessed clinical outcomes following treatment. Among the 403 patients presenting with SHL during the study period, 9 (2.2%) were diagnosed with VS, aged between 25 and 72 years. Although audiometric profiles varied, high-frequency hearing loss predominated, mostly categorized as mild to moderate. Six patients (66%) had Koos grade I-II schwannomas. Only 2 patients achieved complete hearing recovery post-treatment, while 4 showed no improvement. VS is a rare etiology of SHL, accounting for slightly over 2% of cases. Its symptomatology, severity, and audiometric patterns do not significantly differ from SHL caused by other factors. Tumor size does not correlate with hearing characteristics. Treatment modalities resemble those for other SHL cases, and hearing improvement does not obviate the necessity for follow-up magnetic resonance imaging (MRI) scans. [ABSTRACT FROM AUTHOR]

Background: Spinal meningiomas coexisting with schwannomas in patients without neurofibromatosis are extremely rare lesions. There were only 15 cases reported to date, which were concurrent intradural tumors of different pathological types. Case presentation: Herein, we present a rare case of a 15-year-old child with concurrent spinal dorsal meningioma and ventral giant invasive schwannoma at C7-T3 and T10-S5 spinal levels. Preoperative magnetic resonance imaging and computed tomography indicated the schwannoma across the thoracic and lumbosacral transitional vertebra, with extensive bony erosion of the sacrum. The results of surgical resection were mostly satisfactory. Conclusions: The present case is the youngest patient diagnosed with concurrent intradural tumors at different spinal levels. The pathogenetic mechanism remains unclear. The clinical presentations are always atypical. Surgical resection of the tumors is the first choice. We use the non-fusion surgery to preserve the function of the lumbar spine. [ABSTRACT FROM AUTHOR]

Background: The expanded transpromontorial transcanal approach (ExpTTA) represents a recent addition to the surgical approaches available for the treatment of vestibular schwannoma. An initial purely endoscopic version has been complemented by the use of the microscope and it is now one of the possible surgical options for small to medium-sized vestibular schwannomas with a predominantly intracanalar development. Methods: This is a series of 54 patients who underwent microsurgical resection of sporadic, unilateral vestibular schwannoma, mainly Koos I—II with non-serviceable hearing, between January 2016 and January 2023 using the expanded transcanal transpromontorial approach. We describe the surgical technique, focusing on anatomical landmarks, and analyzing its advantages and shortcomings. Retrospective analysis of clinical outcomes is presented, including early and late complications. The mean follow-up was 46.7 months. Results: We achieved gross total resection of the lesion in all cases, confirmed on the first follow-up MRI at least 6 months after each procedure. We did not record any intraoperative complication nor disease recurrence. We recorded two postoperative severe facial nerve palsies, one of which was permanent. No cases of disabling vertigo or imbalance were reported, and all patients reported full recovery of autonomy in daily activities. Three cases of otoliquorrhea were managed conservatively successfully. Conclusions: The transcanal transpromontorial approach combines the advantages of endoscopy with the possibilities provided by microsurgery. Our experience confirms its safety in terms of surgical complications and facial nerve outcome. This approach is amongst the treatment options for small-medium schwannomas in patients with impaired hearing, especially in young patients, ensuring radical resection, disease control, and minimal morbidity. [ABSTRACT FROM AUTHOR]

Objectives: Schwannoma arising from cervical sympathetic chain (CSC) is a rare clinical entity. CSC is hard to preserve in CSC schwannoma (CSCS) surgeries, resulting in Horner's syndrome (HS) and first bite syndrome (FBS). This article aims to explore our experience in successful preservation of CSC in CSCS surgeries. Methods: This is a retrospective review of CSCS cases treated at our tertiary medical institution between Apr 2018 and March 2022. Only cases with successful intraoperative preservation of CSC were included. Results: In total, 3 cases were included. There were 2 male patients and 1 female patient. Their age was between 38 years old and 66 years old (average and median age was 52 and 51 years old, respectively). Presenting symptom was neck mass for all them, 2 of which were on the left side, while 1 was on the right. Intracapsular enucleation of the CSCS was attempted and achieved in all 3 cases. Hemorrhage from the inner surface of capsules was diffuse and heavy. Constant saline irrigation, suction, and bipolar coagulation were needed to achieve hemostasis. Postoperative HS presented between 4 hours and 14 hours after surgery for all 3 patients, which took 1 month to 3 months to recover, whereas FBS did not occur in any patient. Median duration of follow-up was 6 months. No recurrence was observed. Conclusions: Intracapsular enucleation should be attempted in CSCS surgeries, although hemorrhage might be diffuse and hard to control. When intracapsular enucleation was achieved, postoperative FBS can be avoided, while postoperative HS could occur, but its recovery was satisfactory. [ABSTRACT FROM AUTHOR]

Schwannoma in primary neurogenic tumors of the trachea is an extremely rare disease. A 21-year-old male patient with stridor was followed up with a diagnosis of asthma for two years. While no lesion was observed in the chest X-ray, tracheal schwannoma was diagnosed in the case who underwent tracheotomy due to the lesion obstructing the trachea almost completely on chest CT. The clinical findings of the patient improved ultimately in the postoperative period. We aimed to discuss the approach and follow-up of the disease with our case, although it is rare that schwannoma might be in the differential diagnosis of masses with upper airway obstruction. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Apparent diffusion coefficient (ADC) in MRI has been shown to correlate with postoperative House-Brackmann (HB) scores in patients with vestibular schwannoma despite limited methodology. To rectify limitations of single region of interest (ROI) sampling, we hypothesize that whole-tumor ADC histogram analysis will refine the predictive value of this preoperative biomarker related to postoperative facial nerve function. Methods: Of 155 patients who underwent resection of vestibular schwannoma (2014–2020), 125 patients were included with requisite clinical and radiographic data. After volumetric analysis and whole-tumor ADC histogram, regression tree analysis identified ADC cutoff for significant differences in HB grade. Outcomes were extent of resection, facial nerve function, hospital length of stay (LOS), and complications. Results: Regression tree analysis defined three quantitative ADC groups (× 10−6 mm2/s) as high (> 2248.77; HB 1.7), mid (1468.44–2248.77; HB 3.1), and low (< 1468.44; HB 2.3) range (p 0.04). The mid-range ADC group had significantly worse postoperative HB scores and longer hospital LOS. Large tumor volume was independently predictive of lower rates of gross total resection (p <0.0001), higher postoperative HB score (p 0.002), higher rate of complications (p 0.04), and longer LOS (p 0.003). Conclusions: Whole-tumor histogram yielded a robust regression tree analysis that defined three ADC groups with significantly different facial nerve outcomes. This likely reflects tumor heterogeneity better than solid-tumor ROI sampling. Whole-tumor ADC warrants further study as a useful radiographic biomarker in patients with vestibular schwannoma who are considering surgical resection. [ABSTRACT FROM AUTHOR]

Intralabyrinthine schwannomas (ILSs) are rare tumors involving the otic capsule. Notably, they are often misdiagnosed because their symptoms mimic those of other, more common inner ear pathologies. Diagnosis requires high-resolution contrast-enhanced magnetic resonance imaging (MRI), which reveals filling defects (using a T2-weighted MRI sequence) or focal enhancement (using a T1-weighted MRI sequence with gadolinium enhancement) in the inner ear. A 52-year-old male patient with intractable vertigo or single-sided deafness should raise suspicion of this clinical entity as a differential diagnosis. Translabyrinthine excision of the tumor along with auditory rehabilitation using a cochlear implant can provide good outcomes with minimal morbidity in carefully selected cases. Here, we present an interesting case of a transmodiolar ILS mimicking Meniere's disease, wherein surgery using the translabyrinthine approach and an extended cochleostomy yielded favorable outcomes. [ABSTRACT FROM AUTHOR]

Asymmetric sensorineural hearing loss (ASHL) is the most common symptom of sporadic vestibular schwannoma (VS). However, there is still no universally accepted MRI protocol for diagnosing VS. This study identified the characteristics of pure tone audiogram (PTA) in patients with VS. We conducted a retrospective chart review of patients diagnosed with sporadic unilateral VS. In the analysis, we focused on the shape and interaural differences of PTA, stratified by the mode of onset and patient age. In total, 390 patients met the inclusion criteria. The U-shaped audiogram showed the highest proportion in patients with the onset of sudden sensorineural hearing loss (SSNHL). In patients with SSNHL, U-shaped audiograms were younger than other audiograms, and 86.7 % of patients under 40 had U-shaped audiograms. Patients with VS were more likely to have interaural differences at higher frequencies than at lower frequencies. Patients with SSNHL had a significantly higher percentage of interaural differences at 500–4000 Hz than those with onset other than SSNHL (non-SSNHL patients). In addition, non-SSNHL patients had a significant trend toward a higher percentage of interaural differences at all frequencies with increasing age. MRI screening can be considered in patients with SSNHL with U-shaped audiograms under 40 years of age. In ASHL, not SSNHL, MRI screening can be considered for older patients with interaural differences at wider continuous frequencies. Patients with interaural differences at high frequencies had a higher priority than those with interaural differences at low frequencies as indications for MRI screening for VS. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to evaluate neurofibromatosis type 1 (NF1) patients with whole-body MRI (WBMRI) to investigate the frequency of plexiform neurofibromas (pNFs), diffuse neurofibromas (dNFs), and malignant peripheral nerve sheath tumors (MPNSTs). Materials and methods: In this retrospective cross-sectional study, between the years 2015 and 2023, 83 consecutive patients with known NF1 underwent a total of 110 WBMRI screenings for MPNST using a standardized institutional protocol. The lesions are categorized as discrete lesions, pNFs, dNFs, and MPNSTs. Histopathology served as the reference standard for all MPNSTs. Results: Among the 83 patients analyzed, 53 (64%) were women and 30 were men (36%) of ages 36.94±14.43 years (range, 15–66 years). Of the 83 patients, 33 have a positive family history of NF1 and positive genetic studies. Seven of 83 (8%) have only dNF, 20/83 (24%) have pNF, 28/83 (34%) have both dNF and pNF, and 28/83 (34%) have neither. Of the 83 patients, eight (9.6%) were diagnosed with nine total MPNSTs. Age range for patients with MPNSTs at time of diagnosis was 22–51, with an average age of 33.4 years. Only one MPNST (11%) developed from underlying pNF 4 years after WBMRI along the right bronchial tree. Three of eight (37.5%) patients with MPNST died within 5 years of pathologic diagnosis. Conclusion: This study suggests the absence of a predisposition for development of MPNST from pNFs and dNFs in the setting of NF1. As such, these lesions may not need special surveillance compared to discrete peripheral nerve sheath tumors. [ABSTRACT FROM AUTHOR]

Objectives: To compare MRI features of sporadic and neurofibromatosis syndrome–related localized schwannomas and neurofibromas. Methods: In this retrospective study, our pathology database was searched for "neurofibroma" or "schwannoma" from 2014 to 2019. Exclusion criteria were lack of available MRI and intradural or plexiform tumors. Qualitative and quantitative anatomic (location, size, relationship to nerve, signal, muscle denervation) and functional (arterial enhancement, apparent diffusion-weighted coefficient) MRI features of sporadic and syndrome-related tumors were compared. Statistical significance was assumed for p < 0.05. Results: A total of 80 patients with 64 schwannomas (sporadic: 42 (65.6%) v. syndrome-related: 22 (34.4%)) and 19 neurofibromas (sporadic: 7 (36.8%) v. syndrome-related: 12 (41.7%)) were included. Only signal heterogeneity (T2W p=0.001, post-contrast p=0.03) and a diffused-weighted imaging target sign (p=0.04) were more frequent with schwannomas than neurofibromas. Sporadic schwannomas were similar in size to syndrome-related schwannomas (2.9±1.2cm vs. 3.7±3.2 cm, p = 0.6), but with greater heterogeneity (T2W p = 0.02, post-contrast p = 0.01). Sporadic neurofibromas were larger (4.6±1.5cm vs. 3.4±2.4 cm, p = 0.03) than syndrome-related neurofibromas, also with greater heterogeneity (T2W p=0.03, post-contrast p=0.04). Additional tumors along an affected nerve were only observed with syndrome-related tumors). There was no difference in apparent diffusion coefficient values or presence of early perfusion between sporadic and syndrome-related tumors (p > 0.05). Conclusions: Although syndrome-related and sporadic schwannomas and neurofibromas overlap in their anatomic, diffusion and perfusion features, signal heterogeneity and presence of multiple lesions along a nerve are differentiating characteristics of syndrome-related tumors. [ABSTRACT FROM AUTHOR]

Background: We investigated whether non-enhancement MRI features, including measurement of the heterogeneity of the tumor with MR T2 imaging by calculating coefficient of variation (CV) values, were associated with the prognosis of non-metastatic malignant peripheral nerve sheath tumors (MPNST). Methods: This retrospective study included 42 patients with MPNST who had undergone surgical resection (mean age, 50 years ± 21; 20 male participants). Non-enhancement MR images were evaluated for signal intensity heterogeneity on T1- and T2-weighted imaging, tumor margin definition on T1- and T2-weighted imaging, peritumoral edema on T2-weight imaging, and CV. We measured the signal intensities of MR T2-weighted images and calculated the corresponding CV values. CV is defined as the ratio of the standard deviation to the mean. The associations between factors and overall survival (OS) were investigated via the Kaplan–Meier method with log-rank tests and the Cox proportional hazards model. Results: The mean CV value of MR T2 images was 0.2299 ± 0.1339 (standard deviation) (range, 0.0381–0.8053). Applying receiver operating characteristics analysis, the optimal cut-off level for CV value was 0.137. This cut-off CV value was used for its stratification into high and low CV values. At multivariate survival analysis, a high CV value (hazard ratio = 3.63; 95% confidence interval = 1.16–16.0; p = 0.047) was identified as an independent predictor of OS. Conclusion: The CV value of the signal intensity of heterogenous MPNSTs MR T2-weighted images is an independent predictor of patients' OS. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that affects the development and growth of various tissues. NF1 is a major risk factor for the development of malignancies, particularly malignant peripheral nerve sheath tumors, optic gliomas, and leukemia. NF1 encodes a neurofibromin. Three genes, EVI2A, EVI2B, and OMGP, are embedded within intron 27b of NF1. However, the function of these genes remains unclear. EVI2A and EVI2B encode for putative transmembrane proteins. Mouse homologs are associated with viral insertions involved in leukemia in mice. Mouse Evi2b has been identified as a direct target gene of C/EBPα, a transcription factor critical for myeloid differentiation. Also possible is that these genes are related to the leukemia observed in patients with NF1. These genes might act as modifiers of NF1 phenotypic variations. Therefore, we investigated the EVI2B gene in leukemia and NF1 tumors. We analyzed DNA from 10, 20, and 3 patients with NF1, leukemia, and NF1-leukemia, respectively, and six NF1 tumor tissues. DNA sequencing analysis was used to identify the viral integration sequence, and the protein amounts and EVI2B gene expression were analyzed by flow cytometry and quantitative real-time PCR techniques. The EVI2B gene expression was increased in cutaneous neurofibroma compared with the control both at the level of protein and mRNA. However, its expression in plexiform neurofibroma was decreased significantly at protein level and increased at mRNA level compare to control. Moreover, integration of 455 bases near the 3′ end of the exon was detected. When this integrated sequence was blasted into the NCBI retroviral genome database, an 87% match with the HIV-1 virus envelope gene was obtained. These preliminary results show that EVI2B might be important in NF1 tumorigenesis and leukemia. [ABSTRACT FROM AUTHOR]

To investigate the clinical performance, pathological characteristics, treatment and prognosis of salivary gland malignant tumor (SGMT) with skull base metastasis. Five SGMT patients with skull base metastasis were retrospectively studied. Major clinical symptoms included headache, facial paralysis, and ear hearing loss. Three patients had previous history of SGMT resection. All patients underwent preoperative computed tomography (CT) and magnetic resonance imaging (MRI). Craniotomy was performed in three patients, and all the five patients underwent radiotherapy and chemotherapy. Two patients were confirmed as having adenocarcinoma, one patient was pathologically confirmed to have squamous cell carcinoma, one patient had ductal carcinoma, and one patient had acinar cell carcinoma. One patient died after 2 years of treatment, and the remaining 4 patients were followed up for 6 ∼ 24 months, suggesting that the tumor size was not enlarged or showed no local recurrence. SGMT with skull base metastasis is extremely rare, and due to similar imaging characteristics, it can be easily misdiagnosed as meningioma or schwannoma. Early diagnosis, extent of invasion, surgery and combination of chemotherapy and radiotherapy are the prognostic factors of the disease. [ABSTRACT FROM AUTHOR]

Objective: Electrothermal bipolar vessel sealing devices are electrosurgical devices that seal tissues and blood vessels up to 7 mm in diameter. This paper discusses our experience using electrothermal bipolar vessel sealing devices in transoral head and neck surgery. Methods: Electrothermal bipolar vessel sealing devices were used in five patients with lesions of varying size and type within the pharyngo-larynx. These were treated transorally by the otolaryngology department at the Royal Adelaide Hospital. Either the Medtronic LigaSure or BiZact devices were used for transoral resection, debulking or division of these lesions. Results: Electrothermal bipolar vessel sealing devices were considered helpful in four out of the five cases. Success was dependent on suitable transoral access. A single unsuccessful case reflected the LigaSure jaw's inability to engage a large tumour effectively. Conclusion: Electrothermal bipolar vessel sealing devices can be safely deployed transorally to treat lesions of the upper aero-digestive tract in selected patients. Further studies investigating additional indications would broaden applications of this approach. [ABSTRACT FROM AUTHOR]

Gastric schwannomas (GS) are rare mesenchymal tumors from Schwann cells in the gastrointestinal (GI) tract, representing 2–6% of such tumors. We report a 52-year-old woman who experienced abdominal pain, hematemesis, and melena, initially suspected of having a GI stromal tumor through ultrasound and computed tomography abdomen. Despite no active bleeding found during an upper endoscopy, she underwent a successful open subtotal gastrectomy, with histopathology confirming GS. The diagnosis of GS, which may mimic other GI conditions, relies heavily on imaging and histopathological analysis due to its nonspecific symptomatology, including the potential for both upper and lower GI bleeding. This case underscores the diagnostic challenges of GS and highlights surgical resection as the preferred treatment, generally leading to a favorable prognosis. [ABSTRACT FROM AUTHOR]

Neurofibromatosis 2 (NF2) is characterised by numerous tumours in the central and peripheral nervous systems due to NF2 gene abnormalities that cause the tumour suppressor protein, Merlin, to disappear. Often referred to as Multiple Inherited Schwannomas, Meningiomas, and Ependymomas (MISME), a distinctive characteristic of NF2 is bilateral vestibular schwannomas manifesting in late adolescence with symptoms such as sensorineural hearing loss, tinnitus, and balance issues. Two distinct phenotypes, Wishart and Feiling-Gardner, characterise NF2. This case report discusses the case of a paediatric patient who presented with bilateral hearing loss, giddiness, and blurring of vision and sought a Magnetic Resonance Imaging (MRI) examination which revealed bilateral vestibular schwannomas, non vestibular schwannomas, left sphenoid wing meningiomas, multidirectional spinal schwannomas, spinal nerve sheath tumours, and lesions in the retroperitoneal region. Despite an absent family history, significant involvement of cranial nerves strongly indicates classical NF2. Management focuses on preserving function, and surgery is contemplated for symptomatic lesions and tumours causing cord compression. Gamma Knife radiosurgery and targeted therapies have been investigated. [ABSTRACT FROM AUTHOR]

Sporadic vestibular schwannomas (VSs) are rare in children. When occurred in the pediatric population, they usually appear bilaterally and are related to neurofibromatosis type 2 (NF2). The current study reports a 4-year-old boy without family history of VS or NF2 who presented with a large (5.7-cm) VS involving the right cerebellopontine angle and internal auditory canal. Through seven-staged surgical interventions and two stereotactic γ‑knife radiosurgery, the disease was stabilized. At 2-year follow-up, the child had right ear hearing loss, grade IV facial palsy, and normal motor function and gait. No definite evidence of gene mutation regarding NF2 can be identified after sequence analysis and deletion/duplication testing. This case highlights the significance of considering the possibility of sporadic VSs, even in very young children. It emphasizes the importance of not overlooking initial symptoms, as they may indicate the presence of a large tumor and could potentially result in delayed diagnosis. [ABSTRACT FROM AUTHOR]

NF2-related schwannomatosis (NF2) is a rare autosomal-dominant genetic disorder characterized by bilateral vestibular schwannomas and multiple meningiomas. This case report presents the extremely rare occurrence of an anaplastic meningioma in a 12-year-old male with previously undiagnosed NF2. The patient presented with a history of abdominal pain and episodic emesis, gait unsteadiness, right upper and lower extremity weakness, and facial weakness. He had sensorineural hearing loss and wore bilateral hearing aids. MR imaging revealed a sizable left frontoparietal, dural-based meningioma with heterogeneous enhancement with mass effect on the brain and midline shift. Multiple additional CNS lesions were noted including a homogenous lesion at the level of T5 indicative of compression of the spinal cord. The patient underwent a frontotemporoparietal craniotomy for the removal of his large dural-based meningioma, utilizing neuronavigation and transdural ultrasonography for precise en bloc resection of the mass. Histopathology revealed an anaplastic meningioma, WHO grade 3, characterized by brisk mitotic activity, small-cell changes, high Ki-67 proliferation rate, and significant loss of P16. We report an anaplastic meningioma associated with an underlying diagnosis of NF2 for which we describe clinical and histopathological features. [ABSTRACT FROM AUTHOR]

Orbital schwannoma is a rare benign tumor, originating from the Schwann cells of the orbital peripheral nerve sheath. Orbital schwannoma is easily misdiagnosed if the patient shows atypical presentations and atypical appearance on MRI imaging. A 56-year-old male experienced hyposmia for 1 year and was misdiagnosed with cavernous hemangioma pre-operation. This case was treated by surgery through the endoscopic trans-nasal approach. After operation, the patient had no recurrence or complications. Preoperative diagnosis for these cases remains difficult. Combined imaging modalities including computed tomography (CT) and magnetic resonance imaging (MRI) can help in differential diagnosis. Surgery is the main treatment modality for treating orbital schwannoma. Outcomes in most cases are favorable without complications or recurrence. [ABSTRACT FROM AUTHOR]