Comprehensive analysis of diagnosis and treatment in 99 cases of abdominal Schwannoma.

PURPOSE: Schwannoma is a rare mesenchymal tumor. In this study, we analyzed clinicopathologically 99 schwannomas.This retrospective study delves into the clinical, pathological, and immunohistochemical dimensions of abdominal schwannomas. RESULTS: A cohort of 99 cases, comprising 4 malignant and 95 benign schwannomas, was meticulously examined. Clinical analysis revealed a notable gender distribution (1:1.7, male to female) and an average age of 58.5 years. The majority of cases were asymptomatic. A cohort of 99 cases, comprising 4 malignant and 95 benign schwannomas, was meticulously examined. Clinical analysis revealed a notable gender distribution (1:1.7, male to female) and an average age of 58.5 years. The majority of cases were asymptomatic. Tumor sizes ranged from 0.5 to 30 cm, with distinct locations in the stomach for most benign cases and the abdomen/small intestine for malignancies. Initial misdiagnoses were frequent. Pathological evaluations revealed distinct features, including Antoni A and B patterns, spindle cells, and lymphatic sheath structures in benign schwannomas. Malignant cases exhibited atypical cells, ulcers, and invasive growth. Immunohistochemical markers, such as S100, SOX10, and vimentin, consistently demonstrated positivity by contributing to accurate diagnoses. Treatment outcomes indicated a poor prognosis in malignant cases, with overall survival ranging from 10 to 41 months. Conversely, benign cases displayed no recurrence or metastasis during follow-up, despite atypical behaviors. CONCLUSION: This study underscores the rarity of abdominal schwannomas and underscores the need for a comprehensive diagnostic morphology and immunohistochemistry. SOX10 emerges as a crucial and specific marker for accurate diagnosis. Further research is imperative to refine diagnostic protocols and enhance our understanding of the clinical behavior of abdominal schwannomas.

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.

Tumors of the nervous system and hearing loss: Beyond vestibular schwannomas.

Hearing loss is a common side effect of many tumor treatments. However, hearing loss can also occur as a direct result of certain tumors of the nervous system, the most common of which are the vestibular schwannomas (VS). These tumors arise from Schwann cells of the vestibulocochlear nerve and their main cause is the loss of function of NF2, with 95 % of cases being sporadic and 5 % being part of the rare neurofibromatosis type 2 (NF2)-related Schwannomatosis. Genetic variations in NF2 do not fully explain the clinical heterogeneity of VS, and interactions between Schwann cells and their microenvironment appear to be critical for tumor development. Preclinical in vitro and in vivo models of VS are needed to develop prognostic biomarkers and targeted therapies. In addition to VS, other tumors can affect hearing. Meningiomas and other masses in the cerebellopontine angle can compress the vestibulocochlear nerve due to their anatomic proximity. Gliomas can disrupt several neurological functions, including hearing; in fact, glioblastoma multiforme, the most aggressive subtype, may exhibit early symptoms of auditory alterations. Besides, treatments for high-grade tumors, including chemotherapy or radiotherapy, as well as incomplete resections, can induce long-term auditory dysfunction. Because hearing loss can have an irreversible and dramatic impact on quality of life, it should be considered in the clinical management plan of patients with tumors, and monitored throughout the course of the disease.

An algorithmic approach to the management of peripheral nerve tumours.

This article reviews the pathology and management of peripheral nerve tumours, including a framework for investigation and decision-making. Most tumours are benign, including schwannomas and neurofibromas, but malignant peripheral nerve sheath tumours can occur. The risk of malignant change is remote for schwannomas but higher for neurofibromas, particularly in neurofibromatosis type 1. Magnetic resonance imaging is useful for defining the relationship of a swelling with adjacent nerves but is not definitive for tissue diagnosis. Increasing size, pain and neurological deficit suggest malignant change and TruCut needle biopsy is indicated, although there is a risk of sampling error. Excision biopsy preserving nerve function may be carried out for benign tumours to relieve symptoms. Malignant tumours require a multidisciplinary approach. Complete surgical excision with clear margins is the only curative treatment and may be supplemented with radiotherapy and chemotherapy. However, prognosis remains poor, particularly for patients with neurofibromatosis.

Evaluation and management of benign tumors of the eye and eyelid.

Benign tumors of the eye and eyelid are common in children and adults, and they rarely undergo malignant transformation. Their workup and management have evolved over the years with increasing advancements in surgical and laser therapies. This contribution focuses on describing the following benign eye and eyelid tumors and their diagnostic and treatment approaches: congenital and acquired melanocytic nevi; nevus of Ota (Hori nevus); conjunctival papilloma; seborrheic keratosis; epidermoid cyst; dermoid cyst; milium; xanthelasma; hemangioma (cherry angioma and pyogenic granuloma); neurofibroma; neurilemmoma (schwannoma); and fibroepithelial polyp. Surgical removal is the primary treatment approach for many of these benign tumors. With advancements in laser technologies, there are now several laser types that can be used in the treatment of these benign eye and eyelid tumors. Other treatment modalities include cryosurgery, electrosurgery, and topical or intralesional medications. We hope this review will provide a reference to dermatologists and ophthalmologists in their approach to evaluation and management of benign eye and eyelid tumors.

Dificultad diagnóstica en masa retroperitoneal. Reporte de un caso / Diagnostic difficulty in retroperitoneal mass: A case report

El Schwannoma se origina de la vaina perineural de Schwannoma, se detecta con frecuencia incidentalmente en estudios imagenológicos siendo el principal método diagnóstico la Tomografía Computada. El tratamiento es la resección quirúrgica con márgenes libres. Se presenta una paciente femenina de 49 años, en control por oncología por enfermedad de base, cáncer de mama izquierda, se identifica por TAC y PECT/TC imagen voluminosa en retroperitoneo situación lateroaórtica izquierda de configuración no quística e hipermetabólica, solicita biopsia percutánea, ante la falta de ventana, se decide exeresis completa de masa. Diagnóstico definitivo patológico Schwannoma. Sin indicación de tratamiento adyuvante, cursa buena evolución postoperatoria sin recidiva.

Schwannoma, a benign tumor that arises from Schwann cells of the perineural nerve sheath, is often incidentally detected in imaging tests and mainly diagnosed by CT scan. Treatment consists of surgical resection with clear margins. We present the case of a 49-year-old female patient subject to Oncology Department follow-up due to an underlying disease, left breast cancer. A large, hypermetabolic, noncystic mass in the retroperitoneal region is identified by CT and PECT/CT scan in the left lateral aortic area. A percutaneous biopsy is requested. Due to the limited acoustic window, complete resection of the mass is decided. Final histopathology diagnosis of Schwannoma. No adjuvant treatment indication; undergoing favorable postoperative progress, without recurrence

Neurofibromatosis: part 2 – clinical management / Neurofibromatoses: parte 2 – manejo clínico

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Schwannoma ancient retroperitoneal: Reporte de un caso / Retroperitoneal ancient schwannoma: case report

Los neurinomas (neurilemmomas o schwannomas) son tumores de los nervios periféricos derivados de la proliferación neoplásica de las células de Schwann. Aunque su localización preferente es en cabeza y cuello, hasta un 3% son retroperitoneales, encontrándose en su mayor parte asociados a la enfermedad de Von Recklinghausen. En general, los neurinomas son tumores benignos, con lento crecimiento que provocan manifestaciones clínicas escasas e inespecíficas. La incidencia de neoplasias retroperitoneales primitivas varía del 0,3 al 3%. Los sarcomas suponen el grupo más frecuente de neoplasias retroperitoneales, siendo el Schwannoma un tumor inusual con una incidencia del 1% al 5% de los tumores retroperitoneales primarios. El schwannoma también denominado neurinoma o neurilemoma, es un tumor derivado de las células de Schwann de los nervios periféricos. Se caracteriza por su inespecificidad clínica y radiológica, siendo el diagnóstico anatomopatológico, con intensa positividad inmunohistoquímica a la proteína S-100. El tratamiento de elección es la exéresis quirúrgica, con márgenes amplios; no estando descritos casos de malignización ni de metástasis a distancia, pero si la existencia de recurrencia a nivel local probablemente secundaria a resección incompleta...

Schwannona ungueal. Tratamiento quirúrgico / Naif schwannona. Surgicaf treatment

El schwannoma o neurilemoma, es una tumoración benigna de las vainas de los nervios periféricos ocasionados por la proliferación de las células de Schwann. Se presenta el caso de un paciente de 61 años, con una masa tumoral que afecta el lecho ungüeal del índice derecho, de ocho meses de evolución. Se reporta este caso por ser rara su presentación en este lugar y para mostrar el procedimiento quirúrgico empleado, con un buen resultado.

The schwannoma or neurilemoma, is a benign tumor of the peripheral nerve sheath caused by the proliferation of Schwann cells. We report the case of a patient of 6/ years with a tumor that affects the nail bed of the right index of 8 months. We report this case to be rare presentation in this place and to show the surgical procedure used, with a good result.

Neurilemmoma of the oral cavity in pediatric patient / Neurilemoma em cavidade oral acometendo paciente pediátrico

Neurilemmomas arising from Schwann cells, rarely found in oral cavity, are characterized by solitary occurrence, slow growth and smooth surface with variable clinical aspects, depending on the nerve origin. Most instances are typically asymptomatic. Microscopically, the histopathological characteristic consists of alternating regions of hypercellularity and hypocellularity such as Antoni A and Antoni B, respectively. The prognosis is favorable; complete surgical removal is the treatment of choice, no recurrence should be expected. The present report shows the case of neurilemmoma in bucal mucosa, in a 9-year-old child. Patient was referred to the Stomatology Clinic of School of Dentistry, Universidade Federal do Rio Grande do Norte, with complaint of nodular mass, with approximately one year development. Patient was submitted to excisional biopsy, with histopathological exam showing diagnosis of neurilemmoma. After 1 year follow-up there has been no recurrence of lesion.

Os neurilemomas se originam das células de Schwann e raramente são encontrados na cavidade oral, sendo caracterizados por uma ocorrência solitária de crescimento lento e superfície lisa com aspectos clínicos variáveis dependendo do nervo de origem, sendo tipicamente assintomático. Microscopicamente, as características histopatológicas consistem de regiões alternadas de hipercelularidade e hipocelularidade, conhecidas como Antoni A e Antoni B respectivamente. Apresentando um prognóstico favorável, onde o tratamento de escolha é a excisão cirúrgica completa, não sendo esperada recorrência. O presente relato descreve a presença de um neurilemoma em mucosa jugal, acometendo uma criança de 9 anos de idade, que compareceu ao Serviço de Estomatologia da Faculdade de Odontologia da Universidade Federal do Rio Grande do Norte, queixando-se de uma massa nodular, há aproximadamente 1 ano. O paciente foi submetido a biópsia excisional, sendo diagnosticado através do exame histopatológico como neurilemoma e há 1 ano vem sendo acompanhado por nossa equipe sem recorrência da lesão.

Schwannoma intraósseo da coluna vertebral cervical: relato de caso / Intra-osseous cervical vertebral schwannoma: case report

Apresenta-se o caso clínico de um indivíduo do gênero masculino, de 75 anos de idade, com alterações clínicas compatíveis com um quadro de mielopatia cervical. A investigação por imagem revelou uma estenose do canal vertebral em C2-C3 e C3-C4, por alterações degenerativas nesses níveis, e a presença de uma lesão expansiva centrada aos corpos de C5 e C6. A tomografia axial computadorizada (TC) e a ressonância magnética (RM) mostraram ainda um componente paravertebral com características de sinal idênticas às da lesão vertebral. O doente foi operado e o exame histopatológico da massa tumoral demonstrou tratar-se de um schwannoma. Contudo, foram notadas algumas diferenças entre os dois componentes, intraósseo e paravertebral. O caso apresentado reveste-se de interesse especial pela localização e distribuição tumoral particularmente invulgares. Do nosso conhecimento, trata-se do primeiro caso descrito de schwannoma intraósseo com destruição simultânea de dois corpos vertebrais adjacentes. Salienta-se, ainda, a ocorrência de dois componentes tumorais anatomicamente distintos, um intraósseo e outro paravertebral, sem nítida continuidade entre si, como observado intraoperatoriamente e demonstrado pelas imagens de TC e RM. Julgamos importante considerar esse tipo de tumor no diagnóstico diferencial de lesões expansivas vertebrais, de forma a planejar adequadamente a abordagem terapêutica...

Schwannoma gigante del sacro / Giant sacral schwannoma

Los schwannomas gigantes del sacro son extremadamente raros. Se reporta una paciente de 47 años de edad que clínicamente solo refería dificultad para defecar. Los estudios imagenológicos realizados mostraron una tumoración sacra de localización anterior con carácter erosivo del hueso, que impresionó de inicio ser un cordoma. Se le realizó a la paciente un abordaje por vía posterior (sacrectomía) con resección total de la lesión. El informe histológico del Departamento de Patología fue schwannoma. La evolución posoperatoria fue satisfactoria, tiene 3 años de operada y se encuentra asintomática, sin señales de recidiva en las tomografías y resonancias magnéticas evolutivas.

Giant sacral schwannomas are extremely rare. Here is a 47 years-old female patient who just faced some difficulties in defecation. Imaging studies showed a sacral anterior tumor that eroded the bone and seemed to be a cordoma at the beginning. The patient underwent sacrectomy resulting in total resection of the lesion. The histological report of the Pathology Department diagnosed schwannoma. Postoperative recovery was satisfactory; she is asymptomatic after three years of surgery without any signs of relapse observed in CT and magnetic resonance imaging.

Schwannoma benigno del nervio infraorbitario: reporte de un caso y revisión de la literatura / Infraorbital nerve benign Schwannoma: a case report and review of the literature

Los schwannomas son tumores de naturaleza benigna o maligna, originados a partir de las células de Schwann de la vaina de mielina de nervios periféricos, autónomos y pares craneanos. Dentro de estos últimos, el nervio trigémino es el segundo en frecuencia en ser afectado. Se presenta el caso de una paciente de 33 años portadora de una neuralgia trigeminal izquierda típica de 4 meses de evolución, con un estudio imagenológico que muestra un tumor originado del nervio infraorbitario izquierdo. Se practica exéresis de la lesión, cuyo estudio histológico revela un schwannoma benigno del nervio infraorbitario. No existen casos con afectación de este nervio publicados a la fecha en la literatura internacional que se ha revisado.

Schwannomas are benign or malignant tumors that arise from Schwann cells in the myelin sheath of peripheral, autonomic or cranial nerves. Among the latter, involvement of the trigeminal nerve is usually the second in frequency. We report the case of a 33 year old patient presenting with a left trigeminal neuralgia of 4 month of evolution. The imaging study showed a tumor of the left infraorbital nerve. The lesion was excised, and the histological study revealed a benign Schwannoma of the infraorbital nerve. To our knowledge, this is the first report of this nerve being affected.

Tratamento cirúrgico do neurinoma do acústico: fatores prognósticos na preservação da função motora do nervo facial / Surgical treatment of acoustic neuroma: prognostic factors in the preservation of motor function of the facial nerve

Neste trabalho são estudados 50 pacientes portadores de NAC submetidos a tratamento cirúrgico para remoção do tumor. Estabelece-se correlação estatística entre a preservação da função motora da NFAC e achados clínicos, de neuroimagem e intra-operatórios. O objetivo é determinar quais fatores podem exercer influência significativa do ponto de vista estatístico no prognóstico da função motora do NFAC no seguimento pós-operatório, além de estabelecer a melhor época para reinvenção da musculatura da mímica facial, quando necessária. Os resultados mostraram que a probabilidade de preservação funcional do NFAC é influenciada conjuntamente pelo tamanho do tumor e pela idade do paciente. Portanto pacientes idosos e portadores de tumores volumosos apresentam menor probabilidade de preservação de função motora adequada do NFAC, definida neste trabalho como graus I e III na escala de House. A aderência tumora ao tronco encefálico, com maior probabilidade de ocorrer nos tumores volumosos e irregulares, também mostrou associação com a dificuldade de preservação funcional do NFAC.

Schwannoma cervical calcificado / Cervical calcified schwannoma

Presentamos un caso de schwannoma cervical calcificado, en un paciente de 19 años de edad, cuyo motivo de consulta fue tumor cervical, localizado en la región lateral derecha del cuello. El día 15-08-88 fue intervenido quirúrgicamente, reaizando cervicotomía lateral derecha; los hallazgos correspondieron a un tumor sólido prevertebral, con relaciones en la base del cráneo, que desplazaba el esófago, la tráquea y el paquete vasculonervioso cervical derecho; fue resecado en su totalidad. Dada la laboriosa resección, lo difícil del diagnóstico diferencial y la baja frecuencia de esta lesión consideremos su reporte y la revisión de bibliografía nacional e internacional

Neurolinoma bucomaxilofacial / Buccomaxillofacial neurilemmoma

Reportamos un caso clínicoquirúrgico de Neurilemoma primitivo del nervio lingual