Tumor benigno, geralmente encapsulado, de crescimento lento, composto por células de Schwann. Afeta nervos periféricos e cranianos. Recorre com pouca frequência e apenas casos raros associados a transformação maligna foram relatados.
Introdução
O que você precisa saber de cara
A schwannomatose é um distúrbio caracterizado por múltiplos tumores não cancerosos (benignos) chamados schwannomas, que são um tipo de tumor que cresce nos nervos. Os schwannomas se desenvolvem quando as células de Schwann, que são células especializadas que normalmente formam uma camada isolante ao redor do nervo, crescem de forma descontrolada para formar um tumor.
Os sinais e sintomas da schwannomatose geralmente aparecem no início da idade adulta. O sintoma mais comum é a dor de longa duração (crônica), que pode afetar qualquer parte do corpo. Em alguns casos, a dor é sentida em áreas onde não há tumores conhecidos. A dor associada a essa condição varia de leve a grave e pode ser difícil de controlar. Outros sinais e sintomas que podem ocorrer com a schwannomatose dependem da localização dos tumores e de quais nervos são afetados. Esses problemas incluem dormência, fraqueza, formigamento e dores de cabeça. A expectativa de vida de pessoas com a condição é normal.
A schwannomatose geralmente é considerada uma forma de neurofibromatose, que é um grupo de distúrbios caracterizados pelo crescimento de tumores no sistema nervoso. As outras duas formas reconhecidas de neurofibromatose são a neurofibromatose tipo 1 e a neurofibromatose tipo 2. As características da schwannomatose podem ser muito semelhantes às da neurofibromatose tipo 2. No entanto, a schwannomatose quase nunca inclui tumores do ouvido interno chamados schwannomas vestibulares, que são uma marca registrada da neurofibromatose tipo 2. Características adicionais das outras formas de neurofibromatose, incluindo o desenvolvimento de outros tipos de tumores, são muito menos comuns na schwannomatose.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoTumor benigno, geralmente encapsulado, de crescimento lento, composto por células de Schwann. Afeta nervos periféricos e cranianos. Recorre com pouca frequência e apenas casos raros associados a transformação maligna foram relatados.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 47 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Schwannomatosis, vestibular
An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes.
Coenzyme Q10 deficiency, primary, 6
An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.
Rhabdoid tumor predisposition syndrome 1
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Glioma
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Variantes genéticas (ClinVar)
854 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Schwannoma benigno
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Successful Sphincter-Preserving Resection of a Giant Rectal Schwannoma Using Transanal Total Mesorectal Excision: A Case Report.
Rectal schwannomas are rare, accounting for less than 10% of all gastrointestinal schwannomas. When they are large and located in the lower rectum, achieving complete resection while preserving sphincter function can be technically challenging. Transanal total mesorectal excision (TaTME) provides an enhanced view of the deep pelvis and facilitates precise dissection around the anorectal junction. We report a case of a giant rectal schwannoma that was successfully resected with anal preservation using TaTME. A 30-year-old woman was referred with an 11-cm rectal tumor in the pelvis identified during pregnancy. MRI revealed a well-circumscribed mass surrounding the lower rectum, in broad contact with the uterus, vagina, and anal sphincter. Endoscopic ultrasound-guided fine-needle aspiration demonstrated a benign schwannoma. Considering the patient's strong desire for sphincter preservation, laparoscopic intersphincteric resection assisted by TaTME was performed. The operative time was 317 minutes with minimal blood loss (35 mL). The tumor was completely resected with negative margins, and no diverting stoma was required. Pathology confirmed a plexiform schwannoma without malignancy. The postoperative course was uneventful, and the patient was discharged on POD 12. At 3 months postoperatively, anal function was satisfactory, with a Low Anterior Resection Syndrome score of 14 indicating only minor symptoms. TaTME is a useful surgical strategy for large rectal tumors in which conventional laparoscopic approaches provide limited visualization. This approach enabled complete resection with preservation of anal sphincter function in a patient with a giant rectal schwannoma.
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Olfactory groove schwannomas are exceptionally rare intracranial tumors that present a significant diagnostic challenge, as they are frequently misidentified as meningiomas on preoperative imaging. We report the case of a 44-year-old woman who presented with a two-month history of headache and blurred vision. Neuroimaging revealed a large, dural-based, homogeneously enhancing extra-axial mass in the left frontal region, strongly suggestive of a meningioma. The patient underwent surgical excision of the lesion. Histopathological examination, however, revealed the classic features of a benign schwannoma, including Antoni A and B areas, nuclear palisading, and Verocay bodies. This diagnosis was confirmed by an immunohistochemical profile that was positive for S100 and negative for Epithelial Membrane Antigen. This case underscores the limitations of radiological diagnosis for skull base lesions and highlights the critical role of histopathological and immunohistochemical analysis in achieving a definitive diagnosis, which is paramount for guiding appropriate management.
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We report a rare case of obturator nerve schwannoma incidentally found during laparoscopic radical prostatectomy in a 68-year-old man with a 20-year history of chronic thigh pain. Initially interpreted as lymphadenopathy on MRI, the lesion was excised via intracapsular, nerve-sparing resection. Histopathology confirmed a benign schwannoma. The patient experienced >90 % pain relief, regained urinary continence by day 30, and is recovering erectile function. At six months, he remains symptom-free. Obturator schwannomas are extremely rare and can mimic nodal disease. Minimally invasive, nerve-sparing excision during pelvic oncologic surgery is safe and effective when performed by experienced surgeons.
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Scalp schwannomas are rare, benign peripheral nerve sheath tumors often misdiagnosed due to their nonspecific presentation. They typically present as slow-growing, painless subcutaneous nodules, most commonly in the occipital region. We report a 29-year-old female with a gradually enlarging, painless occipital scalp nodule for 7 months. Clinically, it was suspected to be a lipoma or pilar cyst. Excision under local anesthesia revealed a well-encapsulated, yellowish mass. Histopathology confirmed a benign schwannoma. The patient had an uneventful recovery with no recurrence at 6-month follow-up. Scalp schwannomas, though rare, exhibit characteristic clinical and histopathological features. They are frequently misdiagnosed due to their rare occurrence as well as their clinical and radiological resemblance to other benign lesions. Complete surgical excision is the preferred treatment, offering an excellent prognosis with minimal risk of recurrence. Extended follow-up is recommended to monitor potential late recurrences.
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The Pan African medical journalSymptomatic pericardial schwannoma treated with video-assisted thoracic surgery: a case report.
Journal of thoracic diseaseLaparoscopic resection of benign schwannoma in the hepatoduodenal ligament: A case report and review of the literature.
Oncology lettersGiant Schwannoma of the Saphenous Nerve in The Distal Thigh: A Case Report.
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European journal of dentistrySuccessful excision of a massive bleeding schwannoma by thoracoscopic surgery.
Asian cardiovascular & thoracic annalsA large schwannoma of the middle mediastinum: A case report and review of the literature.
Oncology lettersLaparoscopic resection of a retroperitoneal schwannoma located in the hepatic hilus.
Surgical case reportsClinical Features and Treatment of Penile Schwannoma: A Systematic Review.
Clinical genitourinary cancerMediastinal schwannoma with atypical localization diagnosed by endobronchial ultrasound.
The clinical respiratory journal[Two Cases of Intrapelvic Schwannoma].
Hinyokika kiyo. Acta urologica Japonica[A Case of Retroperitoneal Tumor in the Adrenal Area Turned Out to Be Schwannoma Mimicking an Adrenal Malignant Tumor].
Hinyokika kiyo. Acta urologica JaponicaSurgical Planning by 3D Printing for Primary Cardiac Schwannoma Resection.
Yonsei medical journalBenign intramural schwannoma of the esophagus - case report.
Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgeryRetroperitoneal schwannoma between the inferior vena cava and the abdominal aorta resected by laparoscopic surgery: A case report.
Asian journal of endoscopic surgeryIdentification, by systematic RNA sequencing, of novel candidate biomarkers and therapeutic targets in human soft tissue tumors.
Laboratory investigation; a journal of technical methods and pathologyA longitudinal study to assess the volumetric growth rate of spinal intradural extramedullary tumour diagnosed with schwannoma by magnetic resonance imaging.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyVestibular schwannoma atypically invading temporal bone.
Journal of Korean Neurosurgical SocietyAn unusual case of vulvar schwannoma.
World journal of surgical oncologyLaparoscopic resection of schwannoma of the ascending colon.
Case reports in gastroenterologyAncient schwannoma of the thumb pulp.
Plastic and reconstructive surgery. Global openSymptomatic schwannoma of the abdominal wall: A case report and review of the literature.
Oncology lettersRetroperitoneal schwannomas: advantages of laparoscopic resection. Review of the literature and case presentation of a large paracaval benign schwannoma (with video).
Asian journal of endoscopic surgeryMalignant Transformation of Vagal Nerve Schwannoma in to Angiosarcoma: A Rare Event.
Journal of surgical technique and case reportAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Schwannoma benigno e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
O schwannoma benigno é um tumor não canceroso e de crescimento lento, associado a uma expectativa de vida normal. Ele recorre com pouca frequência e casos de transformação para formas malignas são muito raros.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Schwannoma benigno. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/schwannoma-benigno
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Schwannoma benigno
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Ensaios clínicos
- fonte: ClinicalTrials.gov
