Schwannoma retroperitoneal primario. Presentación de un caso

Los schwannoma son tumores de tejidos blandos que se originan en las células de Schwann de la vaina nerviosa en los nervios periféricos, craneales o viscerales, en cualquier parte del cuerpo. Se trata de una entidad extremadamente inusual. En el artículo se describe el caso de un paciente de piel negra, 47 años de edad y con antecedentes de salud, quien acudió a consulta de clasificación, refiriendo que desde hacía un mes había comenzado a presentar dificultad para orinar, hasta llegar a la retención aguda de orina. Al examen físico se constató, mediante tacto rectal, esfínter tónico, ampolla rectal vacía, próstata aumentada de tamaño grado IV con consistencia fibromuscular de superficie lisa y móvil; no dolorosa. Tras realizarle estudios imagenológicos y complementarios, recibió tratamiento quirúrgico en el Hospital Provincial Docente Oncológico María Curie, de Camagüey, Cuba. Se le diagnosticó un schwannoma retroperitoneal, confirmado por el informe de Anatomía Patológica. Actualmente la evolución del paciente es favorable, sin tratamiento médico, pero con seguimiento periódico.

Schwannoma are soft tissue tumors that originate in Schwann cells of the nerve sheath in peripheral, cranial or visceral nerves, anywhere in the body. This is an extremely unusual entity. The article describes the case of a 47-years-old black-skinned patient with a history of health who attended a triage consultation, reporting that one month ago he had started having difficulty urinating, leading to acute urinary retention. The physical examination confirmed, through digital rectal examination, a tonic sphincter, an empty rectal ampulla, a grade IV enlarged prostate with a fibromuscular consistency with a smooth and mobile surface; not painful. After carrying out imaging and complementary studies, he received surgical treatment at the María Curie Provincial Oncological Teaching Hospital, in Camagüey, Cuba. He was diagnosed with a retroperitoneal schwannoma, confirmed by the Pathology report. Currently the evolution of the patient is positive, without medical treatment, but with periodic follow-up.

Schwannoma intraóseo en fémur, una presentación inusual. Reporte de caso / Intraosseous Schwannoma in femur, an unusual presentation. Case report

El Schwannoma o Neurilemoma es un tumor benigno de derivación neuroectodérmica que se origina en las células de Schwann, que constituyen la envoltura de los nervios. Es el tumor benigno más común de los nervios periféricos, tiene predisposición a originarse a partir de nervios periféricos sensoriales y puede presentarse como tumores en tejidos blandos. La presentación intraósea del Schwannoma es rara y corresponde al 0,2% de los tumores óseos primarios. Se presenta caso clínico de paciente masculino de 36 años de edad con tumor en cóndilo femoral medial de rodilla derecha de 4 años de evolución, cursando con dolor intermitente moderado a quien se le practicó el protocolo oncológico, imagenológico e histológico, de la Unidad de Oncología Ortopédica del estado Monagas. Se diagnosticó Schwannoma intraóseo, se procedió a realizar resección marginal y reconstrucción con alloinjerto y fijación con placa y tornillos con excelente evolución postoperatoria. El Schwannoma intraóseo es extraordinariamente raro y su ubicación en el fémur lo es aún más. El objetivo del presente trabajo es reportar un caso de Schwannoma Intraóseo, mostrar las estrategias para su diagnóstico y los tratamientos aplicados, así como la revisión de los datos al respecto existentes en la literatura(AU)

Schwannoma or Neurilemoma is a benign tumor of neuroectodermal derivation that originates in Schwann cells, which constitute the nerve sheath. It is the most common benign tumor of the peripheral nerves, has a predisposition to originate from peripheral sensory nerves, and can present as soft tissue tumors. The intraosseous presentation of Schwannoma is rare and corresponds to 0,2% of primary bone tumors. A clinical case of a 36-yearold male patient with a tumor in the medial femoral condyle of the right knee of 4 years of evolution is presented, presenting with moderate intermittent pain who underwent the oncological, imaging and histological protocol of the Oncology Unit. Monagas State Orthopedic. Intraosseous Schwannoma was diagnosed, marginal resection and allograft reconstruction and plate and screw fixation were performed with excellent postoperative evolution. Intraosseous Schwannoma is extraordinarily rare and its location in the femur is even more so. The objective of this paper is to report a case of Intraosseous Schwannoma, show the strategies for its diagnosis and the treatments applied, as well as the review of the existing data in the literature(AU)

Schwanoma palatino en paciente pediátrico de 12 años: una rara presentación clínica

El schwanoma es un tumor neural que se origina en las células de Schwann presentes en la vaina nerviosa cuya localización más frecuente a nivel oral es el dorso de lengua, siendo mucho más frecuente en adultos. En población pediátrica la presentación es muy rara siendo lengua su ubicación más frecuente, mientras que a nivel palatino solo se conocen 11 reportes en menores de 16 años. El objetivo de este reporte es presentar un caso clínico inusual de schwanoma palatino en un niño chileno de 12 años de edad, quien fue derivado con diagnóstico clínico presuntivo de carcinoma mucoepidermoide. El caso se complementó con radiografía panorámica, Conebeam, y luego biopsia incisional. Finalmente, se diagnosticó schwanoma palatino variedad sólida. Es importante considerar al schwanoma como diagnóstico diferencial en casos de tumores palatinos, en especial en casos pediátricos ya que se pueden presentar similares características clínicas a tumores de glándula salival.

The Schwannoma or neurilemmoma tumor originates from Schwann cells present in nerve sheaths. At oral level, its most frequent location is at the back of the tongue, being much more frequent in adults. In the pediatric population, this occurrence is rare and most frequently found in the tongue. At palatal level, only 11 reports are known in children under 16 years of age. The aim of this report is to present an unusual clinical case of palatal schwannoma in a 12-year-old Chilean boy, referred with a clinical diagnosis of mucoepidermoid carcinoma. The case was complemented with panoramic radiography and Cone beam, for its subsequent incisional biopsy. Finally, a solid palatal schwannoma was diagnosed. It is important to consider schwannoma as a differential diagnosis in cases of palatal tumors, especially in pediatric cases, since they can present similar clinical characteristics to salivary gland tumors.

Schwannoma intraóseo mandibular: reporte de un caso clínico / Mandibular intraosseous schwannoma: a clinical case report

Objetivo: El schwannoma es un tumor neuroectodérmi- co benigno de la vaina nerviosa o vaina de mielina formada por células de Schwann. Aproximadamente entre el 25 y el 48% de los casos presentan localización en el territorio cer- vicofacial, especialmente en los tejidos blandos de esta re- gión. Se los puede clasificar como schwannomas periféricos o intraóseos, éstos últimos también denominados centrales. Los schwannomas intraóseos son poco comunes, constituyen menos del 1% de los schwannomas presentes en la región en cuestión y menos del 0,2% de todos los tumores primarios óseos. El presente trabajo tiene como objetivo reportar un caso clínico de un schwannoma intraóseo mandibular, revi- sando aspectos clínicos, radiográficos y anatomopatológicos. El schwannoma intraóseo es una entidad poco común, o al menos se encuentra en una condición de subregistro en Argen- tina, por lo que este caso constituye una rareza. Caso clínico: Se presentó a la consulta una paciente de 30 años de edad, derivada al servicio de Cirugía y Trau- matología Bucomaxilofacial del Hospital "Parmenio Piñero" de la Ciudad Autónoma de Buenos Aires por su odontólogo de cabecera, a raíz de un hallazgo radiográfico durante un control de rutina. Se planificó realizar una biopsia incisio- nal, cuyo resultado anatomopatológico fue compatible con el diagnóstico de schwannoma intraóseo. Se procedió a realizar la enucleación completa. Finalmente, la paciente evolucionó sin complicaciones (AU)

Aim: Schwannoma is a benign neuroectodermal tumor of the nerve sheath or myelin sheath formed by Schwann cells. Approximately between 25 and 48% of the cases are located in the cervicofacial territory, especially in the soft tissues of this region. They can be classified into peripheral and intraosseous schwannomas, the last one can also be reported as central. In- traosseous schwannomas are rare, constituting less than 1% of schwannomas present in the region and less than 0.2% of all primary bone tumors. This publication aims to report a clin- ical case of mandibular intraosseous schwannoma, reviewing clinical, radiographic and anatomopathological aspects. In- traosseous schwannoma is a rare entity, or at least is under a condition of underreport in Argentina, so this case is a rarity. Clinical case: A 30-year-old patient, referred to the Buccomaxillofacial Surgery and Traumatology service of the "Parmenio Piñero" Hospital of Ciudad Autónoma de Bue- nos Aires by her dentist, because of a radiographic finding during a routine check. An incisional biopsy was performed, the anatomopathological result of which was compatible with the diagnosis of intraosseous schwannoma. A complete enu- cleation was performed under local anesthesia. Finally, the patient evolved without complications (AU)

Multiple neuroendocrine neoplasia in a patient with type i neurofibromatosis (nf1): report of a new mutation (nf1, exons 2-30 deletion) and literature review / Neoplasia neuroendócrina múltipla em doente com neurofibromatose tipo 1 (nf1). descrição de uma nova mutação e revisão da literatura

ABSTRACT BACKGROUND: Plexiform neurofibromas represent a common neoplasia of type 1 neurofibromatosis in which neurofibromas arise from multiple nerves involving connective tissue and skin and rarely affect the colon and rectum. Co-occurrence of plexiform neurofibromas, neuroendocrine tumors with primary involvement of the rectum, and medullary thyroid carcinoma in patients with neurofibromatosis type 1 is a previously undescribed condition. The aim of this manuscript was to present a case of primary plexiform neurofibroma and neuroendocrine tumors of the upper rectum in a patient with neurofibromatosis type 1 whose genetic sequencing found a novel mutation in the neurofibromatosis type 1 gene and to review the literature. CASE REPORT: A 49-year-old woman with a familial history of neurofibromatosis type 1 complained of abdominal cramps for 6 months. She had previously been submitted for a total thyroidectomy due to medullary thyroid carcinoma. She was submitted to a colonoscopy, which identified a submucosa lesion located in the upper rectum. The patient was referred for a laparoscopic rectosigmoidectomy, and the histopathological study of the surgical specimen identified two different tumors. An immunohistochemical panel was done for histopathological confirmation of the etiology of both lesions. The results of the panel showed intense immunoexpression of S100 protein in the largest and superficial lesion, as well as positivity for chromogranin and synaptophysin in the minor and deep lesion confirming the diagnosis of rectal plexiform neurofibromas concomitant with neuroendocrine tumors. The proliferative activity rate using Ki-67 antibodies showed that both tumors had a low rate of mitotic activity (<1%). Genetic sequence panel identified an undescribed mutation in the neurofibromatosis type 1 gene (deletion, exons 2-30). The patient's postoperative evolution was uneventful, and she remains well, without recurrence, 3 years after surgery. CONCLUSION: The co-occurrence of medullary thyroid carcinoma, plexiform neurofibromas, and neuroendocrine tumors of the rectum in patients with neurofibromatosis type 1 is an exceptional and undescribed possibility, whose diagnosis can be confirmed by the immunohistochemical staining and genetic panel.

RESUMO RACIONAL: Os neurofibromas plexiformes representam uma neoplasia frequente na neurofibromatose tipo 1 onde os neurofibromas surgem de múltiplos nervos envolvendo, também, o tecido conjuntivo e a pele raramente acometendo o cólon e o reto. A co-ocorrência de neurofibromas plexiformes, tumores neuroendócrinos, com envolvimento primário do reto, e carcinoma medular de tireoide em pacientes com neurofibromatose tipo 1 é uma condição ainda não descrita. O objetivo deste manuscrito é descrever um caso de neurofibromas plexiformes e tumores neuroendócrinos primários do reto superior, em paciente com neurofibromatose tipo 1, cujo sequenciamento genético identificou uma nova mutação no gene neurofibromatose tipo 1 e revisar a literatura sobre o tema. DESCRIÇÃO DO CASO: Mulher de 49 anos, com história familiar de neurofibromatose tipo 1 queixava-se de cólicas abdominais há seis meses. Tinha sido previamente submetida a tireoidectomia total por carcinoma medular de tireoide. Foi submetida a colonoscopia, que identificou lesão submucosa localizada no reto superior. A doente foi encaminhada para retossigmoidectomia laparoscópica, cujo estudo histopatológico do espécime cirúrgico identificou dois tumores distintos. Realizou-se painel imuno-histoquímico para confirmação histopatológica da etiologia de ambas as lesões. O resultado do painel mostrou intensa imunoexpressão da proteína S-100 da lesão superficial e de maior tamanho,e positividade para cromogranina e somatofisina da lesão mais profunda e de menores dimensões confirmando o diagnóstico de neurofibromas plexiformes retal e tumores neuroendócrinos. O índice de atividade proliferativa utilizando o anticorpo ant-Ki-67 mostrou que ambos os tumores apresentavam baixa índice mitótico (<1%). O painel genético identificou mutação no gene neurofibromatose tipo 1 (deleção, exons 2-30) ainda não descrita. A doente apresentou evolução pós-operatória sem intercorrências, permanecendo bem, sem recorrência, três anos após a cirurgia. CONCLUSÕES: A co-ocorrência de carcinoma medular de tireoide, neurofibromas plexiformes e tumores neuroendócrinos do reto em pacientes com neurofibromatose tipo 1 é uma possibilidade excepcional e ainda não descrita, cujo diagnóstico pode ser confirmado pela coloração imuno-histoquímica e painel genético.

Tumor retrorrectal: Reporte de un caso de Schwannoma / Retrorectal tumor: A case report of Schwannoma

Introducción. En el espacio retrorrectal o presacro pueden desarrollarse lesiones tumorales, tanto benignas como malignas. La mayoría de los pacientes son asintomáticos y, cuando presentan síntomas, éstos son inespecíficos. Entre los tumores retrorrectales se destaca el grupo de origen neurogénico, donde el Schwannoma es el más frecuente.Caso clínico. Mujer de 32 años, con tumor retrorrectal, que producía una sintomatología escasa e imprecisa, diagnosticado durante una intervención quirúrgica por mioma uterino, que finalmenteresultó ser un Schawnnoma. Conclusión. La tomografía computarizada y la resonancia magnética son importantes para el diagnóstico y para establecer el nivel de la lesión en relación con el sacro. La piedra angular del tratamiento es la resección quirúrgica. El abordaje puede ser anterior (abdominal), posterior (perineal, transsacro o parasacrococígeo) o combinado, de acuerdo con su localización al nivel S4

Introduction. Both benign and malignant tumors can develop in the retrorectal or presacral space. Most patients are asymptomatic and, when they do present symptoms, they are nonspecific. Among retrorectal tumors, the group of neurogenic origin stand out, where Schwannoma is the most frequent one. Clinical case. A 32-year-old woman with a retrorectal tumor, which present with imprecise symptoms, diagnosed during a surgical procedure due to a uterine myoma, which finally turned out to be a Schawnnoma. Conclusion. Computed tomography and magnetic resonance imaging are important for diagnosis and for establishing the level of the lesion in relation to the sacrum. The cornerstone of treatment is surgical resection. The approach can be anterior (abdominal), posterior (perineal, transsacral or parasacrococcygeal), or combined, according to its location at the S4 level.

Schwannoma lingual: presentación de un caso y breve revisión de la literatura / Lingual schwannoma: case report and brief review of the literature

Objetivo: Reportar un caso de schwannoma lingual, así como revisar las características diagnósticas (clínicas, por imágenes e histopatológicas) y terapéuticas de esta patología mediante las publicaciones disponibles. Caso clínico: Se presenta un caso de schwannoma in- traoral en un hombre de 26 años de edad con un tumor ubica- do en el tercio anterior de la lengua. Se resolvió mediante un único procedimiento quirúrgico bajo anestesia local sin obser- varse recidivas ni secuelas al menos a 12 meses de seguimien- to a distancia. El schwannoma de la lengua es poco frecuente pero sus características clínico-imagenológicas presentan ras- gos benignos que favorecen la resolución mediante una única biopsia quirúrgica total cuando el tamaño y la ubicación sean propicios para ello (AU)

To describe a case of lingual schwannoma, and through a literature review, to provide data on clinical, imaging and pathological features, as well as treatment methods. Clinical case: A 26-year-old male patient with a swelling in the tip of the tongue was diagnosed as having oral schwannoma. A single surgery was performed, without recurrence or postoperative complications at least during a 12-month follow-up. Lingual schwannoma is a rare entity with benign clinical and imaging characteristics that ena- ble surgical removal without prior biopsy when size and oral location are favorable (AU))

Schwannoma de nervio vago cervical / Schwannoma of the cervical vagus nerve

RESUMEN Los schwannomas del espacio parafaríngeo son tumores benignos de la vaina de los nervios pe riféricos y corresponden al 0,09% de todos los tumores de cabeza y cuello; es aún más inusual su localización en el nervio vago. El diagnóstico suele ser desafiante debido a las diversas patologías ubicadas en la región lateral del cuello. Habitualmente se presentan como masas cervicales laterales asintomáticas. Presentamos el caso de un paciente de 42 años que consulta asintomático. Se le realizó tomografía computarizada y angiografía de vasos del cuello. Se procedió a su resección completa, ob jetivándose parálisis de cuerda vocal derecha en el posoperatorio. La disfonía causada por la parálisis de cuerda vocal es una complicación frecuente; si se presenta, debe comenzarse con rehabilitación fonatoria temprana.

ABSTRACT Schwannomas of the parapharyngeal space are benign tumors that arise from the peripheral nerve sheaths and represent 0.09% of all head and neck tumors. Those originating from the vagus nerve are rarer. The diagnosis represents a challenge due to the different conditions encountered in the lateral neck. They usually present as asymptomatic lateral neck masses. An asymptomatic 42-year-old male patient sought medical advice. He underwent computed tomography scan and carotid angiography. The patient underwent complete resection and developed postoperative vocal cord paralysis. Dysphonia due to vocal cord paralysis is a common complication requiring immediate vocal cord rehabilitation.

Schwannoma esofágico gigante, un diagnóstico de exclusión: reporte de caso / Giant esophageal schwannoma, a diagnosis by exclusion: Case report

Resumen Introducción: Los schwannomas esofágicos son tumores de elementos perineurales de la vaina nerviosa de la célula de Schwann en los nervios periféricos y representan el 2 % de los tumores primarios de esófago. Su difícil diagnóstico está dado por la baja incidencia que este presenta; sin embargo, es una etiología que debe considerarse debido a que su comportamiento clínico e imagenológico es rápidamente progresivo e inusual, comparado con otros tumores benignos de esófago. Caso clínico: Paciente femenina de 38 años con cuadro clínico de disfagia de 1 año de evolución, con endoscopia de vías digestivas altas y tomografía axial computarizada (TAC) de tórax contrastada que evidencian una masa a nivel del esófago cervical y torácico transmural, que obstruye la luz y ejerce el efecto de masa sobre la tráquea. Se realizó una biopsia que reportó un tumor fusocelular con inmunohistoquímica positiva para el marcador S100, por lo que se diagnosticó un schwannoma esofágico. En la actualidad, la paciente se encuentra en controles periódicos y en espera del concepto por oncología clínica para proponer tratamiento no quirúrgico dado el compromiso adyacente. Conclusión: Ante la sospecha de tumor primario de esófago, la primera impresión diagnóstica según la incidencia será un leiomioma, pero con nuestro reporte de caso de schwannoma esofágico, se resalta que, en un cuadro clínico no usual, este es un diagnóstico diferencial que requiere atención precoz para evitar complicaciones y secuelas en los pacientes.

Abstract Introduction: Esophageal schwannomas are tumors of the perineural components of the Schwann cell nerve sheath in peripheral nerves and account for 2% of primary esophageal tumors. Its low incidence makes diagnosis challenging; however, this etiology should be considered because its clinical and imaging behavior is rapidly progressive and unusual compared to other benign esophageal tumors. Case study: A 38-year-old female patient with a 1-year history of dysphagia underwent upper digestive tract endoscopy and contrast chest CT showing a mass at the cervical and transmural thoracic esophagus level, obstructing the lumen and exerting a mass effect on the trachea. A biopsy revealed a spindle cell tumor with positive immunohistochemistry for the S100 marker, leading to the diagnosis of esophageal Schwannoma. The patient is currently undergoing regular check-ups and is awaiting the advice of a clinical oncologist to recommend non-surgical treatment options due to the involvement of adjacent structures. Conclusion: The first diagnostic impression in the case of a suspected primary esophageal tumor would be a leiomyoma based on its incidence. The present case report of an esophageal schwannoma emphasizes that this is a differential diagnosis that requires timely treatment to avoid complications and sequelae in patients.

Retrospective Analysis of 20 Patients Affected by Schwannomas in the Upper and Lower Limbs / Análise retrospectiva de 20 pacientes acometidos por schwannoma nos membros superior e inferior

Abstract Objective To analyze the epidemiological profile and evolution of 20 patients diagnosed with upper- and lower-limb schwannomas. Methods A group of patients was defined for a retrospective evaluation comprising the period between February 2002 and June 2018, in which we studied and evaluated 20 medical records of patients undergoing surgery due to schwannoma; the diagnosis was confirmed by an anatomopathological examination. Results Male and female patients were equally affected. The average age was 50.85 years, ranging from 12 to 77 years. There was a predominance of the upper limb and of the flexor face. The most affected nerve was the ulnar nerve. In total, 6 (30%) patients had transient postoperative complications. No cases of tumor recurrence were identified. Conclusion Schwannoma is a rare and difficult-to-diagnose lesion. It should always be considered as a hypothesis when facing a soft-tissue tumor affecting the limbs. The Tinel sign should be regarded, given its higher correlation with complications. The patients should be informed of the possible postoperative complications, which are frequent but usually transient.

Resumo Objetivo Analisar o perfil epidemiológico e a evolução de 20 pacientes diagnosticados com schwannoma nos membros superiores e inferiores. Métodos Definiu-se um grupo de pacientes para avaliação retrospectiva, compreendendo o período entre fevereiro de 2002 e junho de 2018, no qual foram estudados e avaliados 20 prontuários de pacientes submetidos a procedimento cirúrgico devido a schwannoma; a confirmação diagnóstica foi feita pelo exame anatomopatológico. Resultados Tanto os pacientes do sexo masculino quanto do feminino foram igualmente acometidos, e a média de idade foi de 50,85 anos, variando de 12 a 77 anos. Houve predomínio do membro superior e da face flexora. O nervo mais acometido foi o ulnar, e 6 (30%) pacientes apresentaram complicações pós-operatórias transitórias. Não foi identificado nenhum caso de recidiva tumoral. Conclusão O schwannoma é uma lesão rara e de difícil diagnóstico. Deve sempre ser considerada como hipótese quando se estiver diante de um tumor de partes moles acometendo os membros. O sinal de Tinel deve ser levado em consideração por conta de sua maior correlação com as complicações. Os pacientes devem ser informados quanto às possíveis complicações pós-operatórias, que são frequentes, mas, geralmente, transitórias.

Schwannoma axilar. Reporte de un caso y revisión de la literatura / Axillary Schwannoma. Case report and literature reviewz

Introducción: El schwannoma (neurinoma o neurilemoma) es un tumor benigno originado en la vaina de mielina de los nervios periféricos a partir de la células de Schwann. En su variedad benigna es el tumor más frecuente dependiente de esta estructuras. Se manifiesta entre la tercera y quinta década de vida, sin distinción de género. La localización axilar es extremadamente infrecuente, constituyendo el 5% de todos los casos reportados. Los schwannomas son tumores bien delimitados y de lento crecimiento. La presentación más frecuente es como masa palpable o por la sintomatología clínica correspondiente al territorio de inervación del nervio afectado. Es importante tener en cuenta que estas lesiones puedes formar parte de cuadros clínicos de base genética más complejos como la neurofibromatosis, entre otros. El método diagnóstico de elección es la resonancia magnética nuclear. El tratamiento consiste en la extirpación de la lesión tratando de preservar la función de la estructura nerviosa afectada. Objetivo: El objetivo del presente trabajo es realizar el reporte de un caso de lesión compatible con schwannoma axilar y realizar un revisión de la literatura.

Introduction: Schwannoma (neurinoma or neurilemoma) is a benign tumor originated in myelin sheath of peripheral nerves from schwann cells. In its benign variety, it is the most frequent tumor dependent of these structures. It appears between the third and fifth decade of life without distinction of geder. Axillary location is extremely rare, accounting for 5% of all reported cases. Schwqnnomas are well-defide, slow-growing tumors. The most frequent presentation is as palpabel mass or due to the clinical symptoms corresponding to the innervation territory of the affected nerve. It's important to know that these lesions can be part of more complex genetic-based clinical cases such as neurofibromatosis. The diagnostic method of choice is magnetic resonance imaging. Treatment cosists of excising the lesion, trying to preserve the function of the affected nerve structure. Objetive: The aim of this report is to describe our experience with one case of axillary schwannoma diagnosed in our institution and to perform a review of the literature.

Intraosseous Schwannoma: Case Report and Review of the Literature / Schwannoma intraósseo: Relato de caso e revisão da literatura

Abstract Schwannoma is a benign neural sheath tumor of the soft tissue, and its intraosseous presentation is very rare. It is estimated that intraosseous schwannomas represent 0.2% of all bone tumors. The tumor may affect any site of the skeleton, including the mandible, the sacrum, vertebral bodies, the ulna, the humerus, the femur, the tibia, the patella, the scapula, the ribs, and small bones of the hand. The involvement of the calcaneus has only been reported four times in the literature. The present study reports the case of a 49-year-old male with right hindfoot pain and a radiological finding of an osteolytic bone lesion in the calcaneus. The diagnosis was confirmed by histopathological study. The treatment of choice was an intralesional resection with adjuvant local control, and bone defect substitution with polymethylmethacrylate and fixation with two cannulated screws. The patient had a satisfactory postoperative evolution; after 1 year, he is asymptomatic, with good functional response and no evidence of disease. The present case report shows the clinical, radiological, and pathological features of a rare benign bone neoplasm. Moreover, intraosseous schwannoma should be included in the differential diagnosis of osteolytic calcaneal lesions.

Resumo Schwannomas são tumores benignos oriundos de células da bainha neural cuja apresentação intraóssea é rara. Estima-se que os schwannomas intraósseos representem 0,2% de todos os tumores ósseos. Schwannomas podem acometer diferentes ossos do esqueleto, como a mandíbula, o sacro, corpos vertebrais, a ulna, o úmero, o fêmur, a tíbia, a patela, a escápula, costelas e ossos da mão. Apenas quatro casos que acometeram o calcâneo foram descritos na literatura. No presente trabalho, os autores relatam o caso de um paciente masculino de 49 anos com dor no retropé direito e com exames de imagem que evidenciaram lesão osteolítica no calcâneo. O estudo histopatológico confirmou o diagnóstico de Schwannoma intraósseo. O tratamento de escolha foi ressecção intralesional com adjuvância local e substituição por polimetilmetacrilato e fixação com parafusos canulados. O paciente evoluiu de forma satisfatória no pós-operatório e, após 1 ano de evolução, encontra-se assintomático, com boa resposta funcional e sem evidência de doença. Com esse relato, os autores desejam chamar atenção para essa patologia rara, sua apresentação clínica, radiológica e patológica, além de reiterar a importância de incluir o schwannoma intraósseo dentre os diagnósticos diferenciais das lesões osteolíticas do calcâneo.

Schwannoma mediastínico gigante / Giant mediastinal schwannoma

El schwannoma es un tumor neurogénico que se presenta más frecuentemente en el ángulo costovertebral del mediastino posterior, pero también en otras localizaciones dentro del tórax. Habitualmente suele ser una masa única, encapsulada, bien definida, con un tamaño aproximado 2 a 10 cm. Presentamos el caso de un paciente de 66 años, derivado a nuestro hospital por una masa de 13 cm localizada en el hemitórax inferior izquierdo. Se realizó una biopsia, y la resonancia magnética corroboró el diagnóstico de un tumor mediastínico gigante de la vaina neural. Se procedió a su resección completa sin complicaciones.

Schwannomas are neurogenic tumors, commonly located in the costovertebral angle of the posterior mediastinum, but with many intrathoracic locations. They usually present as a solitary, well-circumscribed and encapsulated mass with a size between 2 and 10 cm. We report a case of a 66-year-old male, referred to our hospital for a mass located at the left lower hemithorax with 13 cm in size. A percutaneous biopsy was performed, and magnetic resonance imaging confirmed the diagnosis of a resectable giant mediastinal nerve sheath tumor. Surgery was performed without complications.

Trigeminal Schwannoma simulating orofacial pain: differential diagnosis and treatment. Case report / Schwannoma trigeminal simulando dor orofacial: diagnóstico diferencial e tratamento. Relato de caso

ABSTRACT BACKGROUND AND OBJECTIVES: Orofacial pain is a major diagnostic challenge for the most experienced clinicians. Due to the complexity regarding the trigeminal-cervical joint, orofacial pain with the same etiology may present different symptoms, and pain with similar symptomatology may have different causes. The objective of this study was to alert health professionals about the importance of differential diagnosis in the hypothesis of trigeminal neuralgia, where the inclusion of the dentist in the medical-hospital team is of paramount importance in establishing the correct diagnosis. CASE REPORT: Twenty-nine-year-old female patient complained of electric shock and pulsatile orofacial pain that covered the third division of the fifth cranial nerve on the right side. Magnetic resonance imaging revealed the presence of trigeminal Schwannoma, causing neuralgia due to its neural compressive nature. Two different neurosurgery departments suggested tumor resection. However, after the evaluation by a third neurosurgery department, in which a dentist, specialized in orofacial pain was part of the team, the complete evaluation established the final diagnosis of right lower first molar odontalgia, with irreversible acute pulpitis as the cause of the symptoms and the expansive lesion was only a radiological finding. CONCLUSION: Interdisciplinary evaluation among physicians and dental surgeons is necessary to obtain the correct diagnosis when considering the hypothesis of trigeminal neuralgia.

RESUMO JUSTIFICATIVA E OBJETIVOS: As dores orofaciais representam grande desafio diagnóstico ao mais experiente clínico. Devido à complexidade do conjunto trigeminocervical, as dores orofaciais com a mesma etiologia podem apresentar sintomas diferentes, e dores com o mesmo sintoma podem ter etiologias diferentes. O objetivo foi alertar o profissional da saúde sobre a importância do diagnóstico diferencial quando aventada a hipótese diagnóstica de neuralgia trigeminal, e a presença do cirurgião-dentista na equipe médico-hospitalar é de suma importância para o estabelecimento do diagnóstico. RELATO DO CASO: Paciente do sexo feminino, 29 anos, apresentou dor orofacial em choque elétrico e pulsátil que percorria o trajeto da terceira divisão do V par craniano, do lado direito. A ressonância nuclear magnética evidenciou Schwannoma trigeminal, sendo diagnosticada neuralgia trigeminal secundária à essa lesão expansiva. Foi sugerida ressecção tumoral em dois serviços de neurocirurgia. Contudo, após a avaliação de um terceiro serviço de neurocirurgia, com a participação de cirurgião-dentista especialista em dor orofacial, foi estabelecido o diagnóstico de odontalgia do primeiro molar inferior direito, com pulpite aguda irreversível, sendo essa a causa do quadro sintomático, e a lesão expansiva, apenas um achado radiológico. CONCLUSÃO: A avaliação interdisciplinar entre médicos e cirurgiões-dentistas é necessária para o diagnóstico correto quando a hipótese diagnóstica for neuralgia trigeminal.

Analysis of surgical outcome and review of literature of schwannomas arising from the extremities

Background: Schwannoma is a benign peripheral nerve sheath tumour derived from Schwann cells. Also known as Neurilemoma, it can affect any nerve in the body. They usually present as a painless swelling or paresthesia over the sensory distribution of the affected nerve. Although it is classically described that schwannomas are well encapsulated and can be completely enucleated during excision, many of them have fascicular involvement and could not be completely shelled out. The aim of this work is to present our experience in operative management of schwannomas located in extremities.Methods: Authors conducted a retrospective review for 18 adult patients with schwannoma, from June 2012 to June 2018.  There were 10 men and 8 women, ranging from 20 to 68 years of age, with a mean age of 46 years old. All patients had excision done for the tumour and histopathological examination confirmed schwannoma. All patients were preoperatively evaluated both clinically and radiologically. FNAC was also done to confirm the origin of the swelling.Results: The mean follow up period has been 2 years. Complete excision with preservation of nerve was done in all cases except for one case in which nerve graft was used.Conclusions: Use of preoperative MRI, magnification and good surgical technique will help to enucleate the tumour completely without any collateral damage or recurrence. The possibility and option of nerve graft should be discussed with patients prior to schwannoma excision, so that nerve grafting could be directly proceeded with patient consent in case there is fascicular involvement of tumour found intraoperatively.

Tumor maligno de la vaina del nervio periférico del ciático izquierdo / Malignant peripheral nerve sheath tumor of the left sciatic nerve

RESUMEN Fundamento: los tumores malignos de la vaina del nervio periférico, son sarcomas de partes blandas con una baja incidencia. Objetivo: presentar un caso de tumor maligno de la vaina del nervio ciático izquierdo que recibió tratamiento quirúrgico en el Hospital Universitario Manuel Ascunce Domenech de la provincia Camagüey en junio de 2018. Presentación del caso: paciente masculino de 45 años, antecedentes de neurofibromatosis tipo I. Historia de dolor ciático troncular izquierdo que se hizo constante. Refirió dificultad para la marcha y aumento de volumen a nivel del glúteo izquierdo. Se palpó tumoración de siete centímetros de diámetro de superficie lisa, firme, fija a planos profundos y dolorosos a la manipulación. La ultrasonografía de partes blandas mostró: imagen compleja de localización profunda hipoecóica ovalada de 45 X 9 X 20 milímetros, de contornos regulares, bien definidos a una profundidad de la piel de 22 mm. Se decidió tratamiento quirúrgico basado en la excéresis de la tumoración. La biopsia definitiva luego de la inmunohistoquímica informó: tumor maligno de la vaina del nervio periférico de alto grado en un neurofibroma previo. Conclusiones: los tumores malignos de la vaina del nervio ciático son neoplasias raras y aún más su localización proximal. En el caso que se presentó a pesar de su resección quirúrgica radical asociada a radioterapia, el tamaño superior a diez centímetros, la asociación a la neurofibromatosis tipo I y el alto grado histológico, ensombrecen el pronóstico. Es importante el diagnóstico precoz y tratamiento oportuno.

ABSTRACT Background: malignant peripheral nerve sheath tumors are soft tissue sarcomas with a low incidence. Objective: to present a case of malignant peripheral nerve sheath tumor of the left sciatic nerve who underwent surgical treatment at the University Hospital Manuel Ascunce Domenech in the province of Camagüey in June, 2018. Presentation of the case: a 45-year-old male patient, personal history of neurofibromatosis type 1 with a truncal left sciatic pain that turned permanent. He referred gait difficulties and increase of the volume in the left buttock. A tumor mass of seven centimeters was palpated, firm, fix to deep planes and painful at deep palpation. Soft tissue ultrasonography showed: complex oval hypoechoic image of deep location of 45 X 9 X 20 millimeters of regular and well defined contours at 22 millimeters depth from the skin. Surgical treatment was decided base on the tumor resection and radiotherapy. Definitive biopsy after immune histochemistry, informed a high degree malignant peripheral nerve sheath tumor of a previous neurofibroma. Conclusions: malignant peripheral nerve sheath tumors are weird neoplasias and even more its proximal location. The presented patient despite the radical surgical resection associated to radiotherapy, the size superior to ten centimeters, the association to neurofibromatosis type 1 and the high histological degree, worsen the forecast. The precocious diagnosis and accurate treatment are important.

Different clinical presentation of intralabyrinthine schwannomas - a systematic review / Diferentes apresentações clínicas do schwannoma intralabiríntico --- uma revisão sistemática

Abstract Introduction: Intralabyrinthine schwannoma is a rare, benign tumor that affects the most terminal portions of the vestibular and cochlear nerves. This tumor can be classified into 10 subtypes, according to its inner ear location. Objective: To carry out a comprehensive review of the most frequent auditory manifestations secondary to the intralabyrinthine schwannoma, describing the possible underlying pathophysiological mechanisms. Methods: Systematic review of the literature until October 2017 using the PubMed, Web of Science and Scopus databases. The inclusion criteria were clinical manifestations of the intralabyrinthine schwannoma. Three researchers independently assessed the articles and extracted relevant information. The description of a case of an intravestibular subtype intralabyrinthine schwannoma with multiple forms of clinical presentations was used as an example. Results: Twenty-seven studies met our inclusion criteria. The most common intralabyrinthine schwannoma subtype was the intracochlear, followed by the intravestibular type. All the cases demonstrated hearing loss, usually progressive hearing loss. Conclusion: The diagnosis of intralabyrinthine schwannomas is based on high-resolution magnetic resonance imaging and should be included in the differential diagnosis of patients with vestibulocochlear complaints. Although there are approximately 600 cases in the literature, we still lack a detailed description of the clinical evolution of the patients, correlating it with MRI findings of temporal bones and tumor subtype.

Resumo Introdução: Schwannoma intralabiríntico é um tumor benigno, raro, que afeta as porções mais terminais dos nervos vestibular e coclear. Este tumor pode ser classificado, de acordo com sua localização na orelha interna, em 10 subtipos. Objetivo: Realizar uma revisão abrangente das manifestações auditivas mais frequentes secundárias ao schwannoma intralabiríntico e descrever os possíveis mecanismos fisiopatológicos subjacentes. Método: Revisão sistemática da literatura até outubro de 2017 nas bases de dados PubMed, Web of Science e Scopus. O critério de inclusão foi manifestações clínicas do schwannoma intralabiríntico. Três pesquisadores avaliaram de forma independente os artigos e extraíram informações relevantes. Exemplificamos com a descrição de um caso de schwannoma intralabiríntico subtipo intravestibular com múltiplas formas de apresentações clínicas. Resultados: Vinte sete estudos contemplaram nossos critérios de inclusão. O subtipo do schwannoma intralabiríntico mais comum encontrado foi o intracoclear, seguido pelo intravestibular. Todos os casos apresentaram alteração auditiva, normalmente perda auditiva progressiva. Conclusão: O diagnóstico de schwannomas intralabirínticos baseia-se em exames de ressonância magnética de alta resolução e deve ser incluído no diagnóstico diferencial de pacientes com queixas vestibulococleares. Apesar de termos aproximadamente 600 casos na literatura, ainda nos falta descrição detalhada da evolução clínica dos pacientes em correlação com achados na ressonância magnética de ossos temporais e o subtipo tumoral.

Schwannomas mediastinal y retroperitoneal metacrónicos / Metachronous mediastinal and retroperitoneal schwannomas

Los schwannomas, también llamados neurilemomas, son tumores originados en la vaina de los nervios periféricos. El 45% ocurren en cabeza y cuello, solo el 9% en mediastino y el 0,7-2,7% en retroperitoneo. La multicentricidad es extremadamente rara. Presentamos el caso de un paciente de 30 años que consultó por dolor torácico derecho asociado a derrame pleural, al que se le diagnosticó un schwannoma mediastinal posterior, el cual fue resecado en forma completa por cirugía videoasistida. A los 3 años, vuelve a consultar por dolor en flanco derecho y, al estudiarlo, se constata un nuevo schwannoma de localización retroperitoneal, que se resecó por vía abierta dada su posición retrocava. Describimos la metodología de estudio de esta neoplasia y los hallazgos histopatológicos que demostraron su benignidad. Conclusión: es una patología muy infrecuente pero con excelente pronóstico posoperatorio si la resección quirúrgica es completa.

Schwannomas, also known as neurilemmoma, are neurogenic tumors that arise from the peripheral nerve sheaths. Forty-five percent of schwannomas occur in the head and neck, 9% in the mediastinum and 0.7-2.7% in the retroperitoneum. Multiple shwannomas are extremely rare. We report the case of a 30-year old male patient with chest pain in the right hemithorax associated with pleural effusion due to schwannoma of the posterior mediastinum that was completely resected with video-assisted thoracoscopy. Three years later, he presented pain on the right lumbar region due to a retroperitoneal schwannoma behind the vena cava that was completely removed with open surgery. We describe the tests used to evaluate this tumor and the histopathological findings confirming its benign nature. Conclusion: Schwannoma is a rare condition with excellent postoperative outcome after complete surgical resection.

Schwannoma em cavidade oral: relato de caso / Schwannoma in oral cavit: case report

Introdução: O schwannoma é uma neoplasia benigna que se origina nas células de Schwann da bainha de mielina dos nervos periféricos motores, sensitivos, simpáticos e dos pares cranianos. Apresenta etiologia desconhecida, e raramente ocorre em região buco-maxilo-facial (aproximadamente 1% dos casos), necessitando de tratamento cirúrgico da lesão. Objetivo: Relatar o caso de uma paciente com schwannoma benigno em cavidade oral, com tratamento cirúrgico para remoção da lesão. Relato de Caso: Paciente do gênero feminino, 18 anos, compareceu ao ambulatório do Serviço de Cirurgia e Traumatologia Buco-Maxilo-Facial da Universidade Federal da Bahia com a seguinte queixa principal: "tem uma lesão na minha boca". Ao exame clínico foi possível observar aumento de volume de consistência firme, séssil, limites bem definidos, de coloração semelhante à mucosa, em região de palato duro. Após biópsia incisional, o laudo concluiu compatibilidade com schwannoma benigno. O plano de tratamento incluiu a abordagem cirúrgica da lesão e posterior análise histopatológica, confirmando o diagnóstico de schwannoma benigno. Considerações finais: A excisão cirúrgica do schwannoma benigno com margem de segurança favorece um bom prognóstico para o paciente, bem como menor chance de recidivas e de transformação maligna da lesão(AU)

Introduction: Schwannoma is a benign neoplasm that originates in the Schwann cells of the myelin sheath of peripheral motor, sensory, sympathetic nerves and cranial nerves. It presents unknown etiology, and rarely occurs in the maxillofacial region (approximately 1% of cases), requiring surgical treatment of the lesion. Objective: To report the case of a patient with benign schwannoma in the oral cavity, with surgical treatment to remove the lesion. Case Report: Patient V.M.S., female, 18 years old, attended the clinic of the Department of Oral and Maxillofacial Surgery and Traumatology of the Federal University of Bahia with the following main complaint: "there is a lesion in my mouth". At the clinical examination, it was possible to observe an increase in the volume of firm consistency, sessile, well-defined limits of mucosa-like staining in the hard palate region. Absence of painful complaints on palpation. After an incisional biopsy, the report concluded compatibility with benign schwannoma. The treatment plan included the surgical approach of the lesion under general anesthesia. The lesion was excised (with a safety margin) and histopathological analysis was performed, confirming the diagnosis of benign schwannoma. Final considerations: Surgical excision of the benign schwannoma with margin of safety favors a good prognosis for the patient, as well as a lower chance of relapse and malignant transformation of the lesion(AU)