Management of a giant adrenal schwannoma.

In this case report, we present a man in his 60s who presented with an incidentally discovered right adrenal mass, which turned out to be an adrenal schwannoma. This is a very rare tumour that originates from Schwann cells and involves the peripheral nerves. The tumour was removed by open adrenalectomy, and this 15-cm adrenal schwannoma is one of the largest reported in the literature, with none >16 cm having ever been reported. This case highlights the importance of keeping an open mind about the cause of an incidentally discovered adrenal mass, which is an increasingly common way for adrenal tumours to present given the increased access to cross-sectional imaging. As well as presenting the case and the pathological basis behind adrenal schwannomas, we include a review of the literature and a general discussion about incidentally discovered adrenal masses.

Image features and clinical analysis of retroperitoneal pelvic schwannoma: a case report.

BACKGROUND: Schwannomas are benign usually encapsulated nerve sheath tumors derived from the Schwann cells, and affecting single or multiple nerves. The tumors commonly arise from the cranial nerves as acoustic neurinomas but they are extremely rare in the pelvis and the retroperitoneal area. Retroperitoneal pelvic schwannomas often present with non-specific symptoms leading to misdiagnosis and prolonged morbidity. CASE PRESENTATION: We report the case of a 59-year-old woman presenting with a feeling of heaviness in the lower abdomen who was found to have a retroperitoneal pelvic schwannoma originating from the right femoral nerve. She had a history of two resections of peripheral schwannomas at four different sites of limbs. After conducting magnetic resonance imaging, this pelvic schwannoma was misdiagnosed as a gynecological malignancy. The tumor was successfully removed by laparoscopic surgery. Pathological analysis of the mass revealed a benign schwannoma of the femoral nerve sheath with demonstrating strong, diffuse positivity for S-100 protein. CONCLUSIONS: Although retroperitoneal pelvic schwannoma is rare, it should be considered in the differential diagnosis of pelvic masses, especially in patients with a history of neurogenic mass or the presence of neurogenic mass elsewhere.

A separate-dural-incision method of extradural dumbbell spinal schwannoma resection: cumulative experience at a single center.

OBJECTIVE: To present our experience in the surgical management of completely extradural dumbbell spinal schwannomas with a new surgical strategy. METHOD: This study is a case series of patients treated at the Neurosurgery Department of the First Affiliated Hospital of USTC, between January 2018 and June 2021. RESULTS: 24 patients met the inclusion criteria, with cervical and lumbar spines being the most frequent locations. All patients underwent surgical treatment. Total gross resection was accomplished in all patients. Two cases had numbness and no case exhibited motor deficit. There was no postoperative CSF leakage or wound infection. CONCLUSION: Based on a limited number of observations, we conclude that our technique was feasible and effective for the treatment of extradural dumbbell spinal schwannomas. CLINICAL TRIAL: http://www.chictr.org.cn/ , No. ChiCTR2400086171.

Laryngeal schwannoma masquerading as malignancy.

Laryngeal schwannoma is a rare type of neurogenous tumour with a non-specific presentation. We present a case of a middle-aged man with issues of hoarseness, globus sensation and intermittent episodes of throat pain. The Hopkins examination showed right vocal fold irregularity with fullness in the right ventricle. The contrast-enhanced CT neck revealed an ill-defined lesion with contrast uptake extending into the paraglottic region with no neck node involvement. Considering the clinical presentation of hoarseness, throat pain and globus with imaging revealing contrast enhancement of lesion, direct laryngoscopy and biopsy were planned to rule out malignancy. Intraoperatively, a well-defined submucosal capsulated swelling became apparent after incision and dissection of the mucosa over the right vocal fold. A complete excision of the swelling was done with microlaryngeal instruments without tracheostomy. The histopathological report was suggestive of schwannoma. The literature review discusses clinical presentation, location, imaging features and management strategy.

Clinical characteristics and outcomes after trigeminal schwannoma resection: a multi-institutional experience.

Given their rarity, the clinical course of patients undergoing trigeminal schwannoma (TS) resection remains understudied. The objective of this study is to describe clinical characteristics and outcomes in patients undergoing surgical resection for TS in a multi-institutional cohort. This is a retrospective study of patients undergoing TS resection at two institutions between 2004 and 2022. Patient, radiographic, and clinical characteristics were reviewed and analyzed with standard statistical methods. Thirty patients were included. The median patient age was 43 (IQR: 35-52) years, and 14 (47%) patients were female. Median clinical and radiographic follow-ups were 43 (IQR: 20-81) and 47 (IQR: 27-97) months respectively. The most common presenting symptoms were trigeminal hypesthesia (57%) and headaches (30%), diplopia (30%), and ataxia/cerebellar signs (30%). The median maximum tumor diameter was 3.3 (IQR: 2.5-5.4) cm. Most tumors were Samii type C (50%) and mixed cystic-solid (63%). Surgical approaches included endoscopic endonasal (33%), supratentorial (30%), combined/staged (20%), infratentorial (10%), and anterior petrosal (7%) approaches. Gross-total resection was achieved in 16 (53%) patients. Radiographic tumor recurrence was noted in four patients at a median of 79 (range 5-152) months. Twenty-six (87%) patients reported improvements in at least one symptom by last follow-up. The most common perioperative complication was new cranial nerve deficit, with 17% of patients having a transient deficit and 10% having a permanent cranial nerve deficit. Surgical resection of TS showed good progression-free survival and symptom improvement, but was associated with cranial nerve deficits.

The utility of intraoperative ultrasonography for spinal cord surgery.

OBJECTIVES: Intraoperative ultrasonography (IOUS) offers the advantage of providing real-time imaging features, yet it is not generally used. This study aims to discuss the benefits of utilizing IOUS in spinal cord surgery and review related literature. MATERIALS AND METHODS: Patients who underwent spinal cord surgery utilizing IOUS at a single institution were retrospectively collected and analyzed to evaluate the benefits derived from the use of IOUS. RESULTS: A total of 43 consecutive patients were analyzed. Schwannoma was the most common tumor (35%), followed by cavernous angioma (23%) and ependymoma (16%). IOUS confirmed tumor extent and location before dura opening in 42 patients (97.7%). It was particularly helpful for myelotomy in deep-seated intramedullary lesions to minimize neural injury in 13 patients (31.0% of 42 patients). IOUS also detected residual or hidden lesions in 3 patients (7.0%) and verified the absence of hematoma post-tumor removal in 23 patients (53.5%). In 3 patients (7.0%), confirming no intradural lesions after removing extradural tumors avoided additional dural incisions. IOUS identified surrounding blood vessels and detected dural defects in one patient (2.3%) respectively. CONCLUSIONS: The IOUS can be a valuable tool for spinal cord surgery in identifying the exact location of the pathologic lesions, confirming the completeness of surgery, and minimizing the risk of neural and vascular injury in a real-time fashion.

Endoscopic full-thickness resection of a large gastric schwannoma and iatrogenic cervical esophageal perforations: A case report.

INTRODUCTION: Gastrointestinal schwannomas are most commonly found in the stomach. Owing to their nonspecific clinical and endoscopic presentations, distinguishing gastric schwannomas (GS) from other gastric submucosal tumors based on typical symptoms and endoscopic features is challenging. Endoscopic full-thickness resection (EFTR) is safe and effective for GS management; however, no standard method exists for the extraction of large gastric specimens after endoscopic treatment. CASE PRESENTATION: We report the case of a 72-year-old Chinese woman who presented with abdominal distension. DIAGNOSIS, INTERVENTIONS, AND OUTCOMES: Gastroscopy revealed a submucosal bulge on the anterior wall of the lower stomach near the greater curvature. Endoscopic ultrasonography and computed tomography suggested a stromal tumor. The patient underwent EFTR of the stomach, and the tumor was successfully removed. The surgical specimen, with a long-axis diameter of approximately 5.5 cm in vitro, was extracted using a snare. Subsequent endoscopic examination revealed longitudinal, full-thickness perforations > 2 cm at the esophageal entrance. Over 10 metal clips were used to seal the mucosa, and a gastrointestinal decompression tube was placed. Follow-up radiography performed at 1 week postoperatively revealed an esophageal mediastinal fistula, which required subsequent endoscopic intervention to close the fistula using metal clips. The patient showed improvement and was discharged at 3 weeks postoperatively. Follow-up esophageal radiography revealed no abnormalities. Postoperative immunohistochemical analysis indicated CD34 (-), CD117 (-), DOG-1 (-), Ki67 (1%), S-100 (+), SDHB (+), SOX-10 (+), and Desmin (-), confirming the diagnosis of GS. Three months postoperatively, gastroscopy showed that the esophageal perforation healed well, a white ulcer scar had formed locally, metal clips were found in the stomach body, and no recurrence was found. CONCLUSION: EFTR is effective for removing giant schwannomas, although the extraction of large specimens may result in iatrogenic cervical esophageal perforations. Perforations > 2 cm can be managed using endoscopic metal clip closure.

Clinicopathological characteristics of secondary trigeminal neuralgia due to cerebellopontine angle tumors. / æ¡¥å°è„‘è§’è‚¿ç˜¤ç»§å‘æ€§ä¸‰å‰ç¥žç»ç—›çš„ä¸´åºŠç— ç†ç‰¹å¾.

OBJECTIVES: Cerebellopontine angle (CPA) tumors are a common cause of secondary trigeminal neuralgia (TN), characterized by their concealed location, slow progression, and difficulty in early detection. This study aims to explore the clinicopathological characteristics of patients with secondary TN due to CPA tumors to enhance understanding and management of secondary TN. METHODS: A retrospective analysis was conducted on clinical data and pathological results of 116 patients with CPA tumor-related TN treated at Xiangya Hospital of Central South University from January 1, 2017 to December 31, 2022. The study analyzed the relationship of tumor pathological types with clinical manifestations, tumor location, surgical methods, and treatment outcomes. RESULTS: Among the cases, 95.7% (111/116) were benign tumors, 3.4% (4/116) were malignant tumors, and 0.9% (1/116) were borderline tumors. Benign tumors were predominantly acoustic neuromas, meningiomas, and schwannomas. Among the patients, 46.6% (54/116) presented with isolated TN, while 53.4% (62/116) exhibited other associated symptoms depending on factors such as tumor growth location and rate. The complete resection rate in this group was over 90%, with 41.4% (48/116) of patients undergoing concurrent microvascular decompression after tumor resection, predominantly for schwannomas. The overall effective rate of surgical treatment reached 93.9%, with schwannomas showing higher efficacy rates compared with acoustic neuromas and meningiomas (P<0.05). The recurrence rate of acoustic neuromas was significantly higher than that of meningiomas and schwannomas (P<0.05). CONCLUSIONS: CPA tumors are a major cause of secondary TN, predominantly benign, with occasional underdiagnosed malignant tumors. Early diagnosis and treatment significantly impact prognosis. Different tumor types vary in clinical symptoms, surgical approaches, and treatment efficacy. Surgical strategies should balance tumor resection extent and neural function preservation, with microvascular decompression as necessary.

NF2-Related Schwannomatosis (NF2): Molecular Insights and Therapeutic Avenues.

NF2-related schwannomatosis (NF2) is a genetic syndrome characterized by the growth of benign tumors in the nervous system, particularly bilateral vestibular schwannomas, meningiomas, and ependymomas. This review consolidates the current knowledge on NF2 syndrome, emphasizing the molecular pathology associated with the mutations in the gene of the same name, the NF2 gene, and the subsequent dysfunction of its product, the Merlin protein. Merlin, a tumor suppressor, integrates multiple signaling pathways that regulate cell contact, proliferation, and motility, thereby influencing tumor growth. The loss of Merlin disrupts these pathways, leading to tumorigenesis. We discuss the roles of another two proteins potentially associated with NF2 deficiency as well as Merlin: Yes-associated protein 1 (YAP), which may promote tumor growth, and Raf kinase inhibitory protein (RKIP), which appears to suppress tumor development. Additionally, this review discusses the efficacy of various treatments, such as molecular therapies that target specific pathways or inhibit neomorphic protein-protein interaction caused by NF2 deficiency. This overview not only expands on the fundamental understanding of NF2 pathophysiology but also explores the potential of novel therapeutic targets that affect the clinical approach to NF2 syndrome.

[Retroperitoneal schwannoma mimicking colorectal cancer metastases: a false positive result report.] / Schwannoma retroperitoneal simulando metástasis de cáncer colorrectal: reporte de un resultado falso positivo.

Introduction: schwannomas are benign and common soft tissue tumors. They are usually asymptomatic and are discovered for other reasons. Materials: we present the case of an 82-year-old male patient with a recent diagnosis of moderately differentiated adenocarcinoma of the colon and a hypermetabolic periaortic nodule as an incidental finding. Results: percutaneous biopsy of the periaortic nodule confirmed the diagnosis of schwannoma. At one year of follow-up, growth of the schwannoma has been demonstrated. There are no signs of progression of his oncological disease. Conclusions: schwannomas are benign tumors, rarely found in the retroperitoneum and can be sources of false-positive positron emission tomography results.

Introducción: los schwannomas son tumores benignos y frecuentes de las partes blandas. Habitualmente son asintomáticos y son descubiertos por otros motivos. Materiales y métodos: presentamos el caso de un paciente masculino de 82 años con diagnóstico reciente de adenocarcinoma de colon moderadamente diferenciado y con un nódulo periaórtico hipermetabólico como hallazgo incidental. Resultados: la biopsia percutánea del nódulo periaórtico confirmó el diagnóstico de schwannoma. Al año de seguimiento, se ha demostrado crecimiento del schwannoma. No hay signos de progresión de su enfermedad oncológica. Conclusión: los schwannomas son tumores benignos, infrecuentes en el retroperitoneo y pueden ser fuentes de resultados falsos positivos en tomografía por emisión de positrones.

Occipital subcutaneous schwannoma diagnosed by ultrasound.

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Endoscopic Transpterygoid Approach to Meckel's Cave: Technical Considerations and Retrospective Analysis of a Clinical Series.

OBJECTIVE: Tumors located within the Meckel's cave (MC) pose a significant surgical challenge. Although several corridors to access this complex region have been described, the endoscopic transpterygoid approach (ETPA) and the endoscopic transorbital superior eyelid approach (ETOA) have emerged in recent years, as viable alternatives to traditional microsurgical transcranial approaches (MTA). To date, there is a limited literature on surgical series considering endoscopic-assisted approaches to the MC. METHODS: We conducted a retrospective analysis of patients with primary MC tumors treated at our Institution between 2015 and 2022, specifically those managed via the ETPA assisted by intraoperative Endoscopic Diving Technique (EDT). Lesion resection extent was evaluated using pre- and post-intervention radiological images and surgical videos. Moreover, a literature review on ETPA was performed. RESULTS: This series comprises 7 patients affected by 4 trigeminal schwannomas, 1 benign notochordal cell tumor, 1 dermoid cyst and 1 mesenchymal tumor. In 71 % of cases, trigeminal neuralgia was the presenting symptom. Post-operative clinical improvement was observed in all but one case. Notably, 85.7 % of patients achieved total or near-total resection (NTR), with the remaining case undergoing subtotal resection (STR). No significant intraoperative complications occurred, and no recurrences were observed during the mean follow-up period of 41 months. CONCLUSIONS: In selected cases, the ETPA offers a direct and safe path to lesions located into the MC. This approach circumvents complications and constraints associated with ETOA or MTA. Moreover, the use of the EDT reduces manipulation of critical neurovascular structures, enhancing the efficacy of the ETPA.

Esophageal schwannoma mimicking non-functional parathyroid adenoma on 99mTc-sestamibi imaging: a case report.

Technetium-99m sestamibi single-photon emission computed tomography/computed tomography (99mTc-sestamibi SPECT/CT) is a mainstay of the pre-operative localization of parathyroid lesions. We report here the case of a 30 year-old woman with a fortuitously discovered 2 cm cervical mass for which a parathyroid origin was originally suspected due to its retro-thyroidal localization and a personal history of nephrolithiasis. Normal serum calcium and parathyroid hormone (PTH) levels excluded primary hyperparathyroidism, raising suspicion of a non-functional parathyroid adenoma, and SPECT/CT imaging showed that the mass was 99mTc-sestamibi-avid. Fine-needle aspiration (FNA) was performed; cytology was non-diagnostic but the needle washout was negative for thyroglobulin, calcitonin and PTH, arguing against a thyroidal or parathyroidal origin of the mass. Core needle biopsy revealed a schwannoma, ostensibly originating from the recurrent laryngeal nerve; upon surgical resection, it was finally found to arise from the esophageal submucosa. This case illustrates the fact that endocrinologists, radiologists, nuclear medicine, head and neck, and other specialists investigating patients with cervical masses should be aware that schwannomas need to be considered in the differential diagnosis of focal 99mTc-sestamibi uptake in the neck region.

Microsurgical resection of a samii type D jugular foramen schwannoma via the carotid triangle without removal of bony structure: how I do it.

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.

Brigatinib in NF2-Related Schwannomatosis with Progressive Tumors.

BACKGROUND: NF2-related schwannomatosis (NF2-SWN, formerly called neurofibromatosis type 2) is a tumor predisposition syndrome that is manifested by multiple vestibular schwannomas, nonvestibular schwannomas, meningiomas, and ependymomas. The condition is relentlessly progressive with no approved therapies. On the basis of preclinical activity of brigatinib (an inhibitor of multiple tyrosine kinases) in NF2-driven nonvestibular schwannoma and meningioma, data were needed on the use of brigatinib in patients with multiple types of progressive NF2-SWN tumors. METHODS: In this phase 2 platform trial with a basket design, patients who were 12 years of age or older with NF2-SWN and progressive tumors were treated with oral brigatinib at a dose of 180 mg daily. A central review committee evaluated one target tumor and up to five nontarget tumors in each patient. The primary outcome was radiographic response in target tumors. Key secondary outcomes were safety, response rate in all tumors, hearing response, and patient-reported outcomes. RESULTS: A total of 40 patients (median age, 26 years) with progressive target tumors (10 vestibular schwannomas, 8 nonvestibular schwannomas, 20 meningiomas, and 2 ependymomas) received treatment with brigatinib. After a median follow-up of 10.4 months, the percentage of tumors with a radiographic response was 10% (95% confidence interval [CI], 3 to 24) for target tumors and 23% (95% CI, 16 to 30) for all tumors; meningiomas and nonvestibular schwannomas had the greatest benefit. Annualized growth rates decreased for all tumor types during treatment. Hearing improvement occurred in 35% (95% CI, 20 to 53) of eligible ears. Exploratory analyses suggested a decrease in self-reported pain severity during treatment (-0.013 units per month; 95% CI, -0.002 to -0.029) on a scale from 0 (no pain) to 3 (severe pain). No grade 4 or 5 treatment-related adverse events were reported. CONCLUSIONS: Brigatinib treatment resulted in radiographic responses in multiple tumor types and clinical benefit in a heavily pretreated cohort of patients with NF2-SWN. (Funded by the Children's Tumor Foundation and others; INTUITT-NF2 ClinicalTrials.gov number, NCT04374305.).

[Features of course of pain syndrome in patients with schwannomatosis]. / Osobennosti techeniya bolevogo sindroma u patsientov s shvannomatozami.

OBJECTIVE: To identify the characteristics of pain syndrome in patients with schwannomas depending on genetic predisposition. MATERIAL AND METHODS: The study included 46 patients with peripheral, spinal and intracranial schwannomas, corresponding to the schwannomatosis phenotype according to the 2022 clinical criteria. All patients underwent sequencing of the LZRT1, Nf2 and SMARCB1 and a copy number study in the NF2. RESULTS: The most severe widespread pain was observed in patients with pathogenic LZRT1 variants, while patients with mosaic variants may not even have local tumor-related pain. Patients with SMARCB1variants may have no pain or have localized pain that responds well to surgical treatment. CONCLUSION: Further studies of the molecular features of schwannomatosis and driver mutations in the pathogenesis of pain are necessary to improve the effectiveness of pain therapy in this group of patients. Schwannomatosis is a disease from the group of neurofibromatosis, manifested by the development of multiple schwannomas. Neuropathic pain is one of the main symptoms characteristic of peripheral schwannomas, however, the severity and prevalence of the pain syndrome does not always correlate with the location of the tumors. According to modern concepts, the key factors influencing the characteristics of the pain syndrome are the target gene and the type of pathogenic variant. The most severe widespread pain is observed in patients with pathogenic variants in the LZRT1 gene, while patients with mosaic variants may not even have local pain associated with tumors. Patients with variants in SMARCB1 may have no pain or localized pain that responds well to surgical treatment.

Combined open maxillectomy and endoscopic endonasal resection of a giant V2 trigeminal schwannoma.

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.

Schwannoma diagnosed by endobronchial ultrasound-guided intranodal forceps biopsy using standard-sized biopsy forceps: A case report.

Schwannomas are classified as neurogenic tumors and are the most frequent nerve sheath tumors in the paravertebral mediastinum. Recently, the addition of endobronchial ultrasound-guided intranodal forceps biopsy (EBUS-IFB) using standard-sized biopsy forceps (SBFs) to endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for metastatic lymph nodes in lung cancer patients reportedly improved the quality and quantity of the obtained specimens without significant complications. However, reports on the usefulness of this technique for benign diseases remain scarce. Here we report a case of schwannoma in the middle mediastinum, which was diagnosed by EBUS-IFB using SBFs, despite inadequate specimens obtained via EBUS-TBNA. An 80-year-old woman presented with dyspnea and a 5-cm sized middle mediastinal tumor. EBUS-TBNA and EBUS-IFB using SBFs were performed for histological diagnosis. No complications were associated with the bronchoscopy procedure, and schwannoma was solely diagnosed using the EBUS-IFB specimens. EBUS-IFB using SBFs is potentially useful for diagnosing benign diseases, including schwannomas, which are often difficult to diagnose with EBUS-TBNA.