RESUMO
BACKGROUND: Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries. METHODS: We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil. RESULTS: Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%. CONCLUSIONS: Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low- and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.
Assuntos
Neurofibroma Plexiforme , Neurofibromatose 1 , Neurofibrossarcoma , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Criança , Humanos , Pessoa de Meia-Idade , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/genética , Neurofibromatose 1/complicações , Neurofibromatose 1/epidemiologia , Neurofibromatose 1/genética , Neurofibrossarcoma/complicações , Estudos Retrospectivos , Adulto JovemRESUMO
Los Schwannomas son tumores derivados de las células de Schwann de las vainas de los nervios periféricos. Se pueden localizar en cualquier región anatómica que contenga tejido nervioso periférico, siendo más frecuentes en la región craneofacial y las extremidades. Los Schwannomas pancreáticos son entidades sumamente infrecuentes de las cuales solo se han descrito 68 casos a nivel mundial. En el presente trabajo se presenta el caso de un paciente con hallazgo incidental de tres tumores sincrónicos dentro de los cuales se encuentra un Schwannoma pancreático.Caso clínico : Paciente femenino de 66 años de edad con antecedente de diabetes mellitus tipo 1 y enfermedad diverticular pancolónica quien acude presentando cuadro clínico compatible con absceso lumbar izquierdo. Se realiza TC de abdomen y pelvis con doble contraste que evidencia extensa área de colección heterogénea en región retroperitoneal que diseca hacia región lumbar y glútea izquierda, además de la presencia de tumor hipodenso de bordes lobulados en mesogastrio. Se realiza colonoscopia que reporta lesión exofítica ulcerada en unión rectosigmoidea. El resto de paraclínicos y estudios de extensión se encontraban dentro de límites normales. Se decide resolución quirúrgica mediante drenaje percutáneo de absceso y laparotomía exploradora. Informe histopatológico: cistoadenoma seroso microquístico de cuerpo de páncreas, Schwannoma de cola de páncreas y adenocarcinoma moderadamente diferenciado de colon sigmoides.Conclusión : Los Schwannomas pancreáticos son entidades sumamente infrecuentes que pueden presentarse con una amplia variedad de manifestaciones clínicas, sin embargo, deben tenerse en cuenta como posible diagnóstico diferencial ante el hallazgo de un tumor pancreático(AU)
Schwannomas, also called Neurilemmomas or Neurinomas, are tumors derived from Schwann cells of the peripheral nerve sheaths. They can be located in any anatomical region that contains peripheral nervous tissue, being more frequent in the craniofacial region and the extremities. Pancreatic Schwannomas are extremely rare entities of which only 68 cases have been described worldwide. In the present study we present the case of a patient with an incidental finding of three synchronous tumors, including a pancreatic Schwannoma.Clinical case : A 66-year-old female patient with a history of type 1 diabetes mellitus and pancolonic diverticular disease who presented with symptoms compatible with left lumbar abscess. A double-contrast CT of the abdomen and pelvis was performed, which revealed a large area of heterogeneous collection in the retroperitoneal region that dissected towards the left lumbar and gluteal region, in addition to the presence of a hypodense tumor with lobulated borders in the mesogastrium. A colonoscopy was performed, which reported an ulcerated exophytic lesion at the rectosigmoid junction. The rest of the paraclinical and extension studies were within normal limits. Surgical resolution is decided by percutaneous abscess drainage and exploratory laparotomy. Histopathological report: microcystic serous cystadenoma of the body of the pancreas, Schwannoma of the pancreas tail, and moderately differentiated adenocarcinoma of the sigmoid colon.Conclusion : Pancreatic Schwannomas are extremely rare entities that can present with a wide variety of clinical manifestations, however, they should be taken into account as a possible differential diagnosis when a pancreatic tumor is found(AU)
Assuntos
Humanos , Feminino , Idoso , Células de Schwann/patologia , Neurofibrossarcoma , Carcinoma Ductal Pancreático , Doenças Diverticulares , Colonoscopia , Colo , Cistadenoma Seroso , Tecido NervosoRESUMO
To integrate the available data published on malignant peripheral nerve sheath tumours (MPNST) of the oral and maxillofacial region. Searches in Embase, PubMed, Web of Science and Scopus were conducted for the identification of case reports/case series in English language. The risk of bias was assessed using the Joanna Briggs Institute tool. Outcomes were evaluated by Cox regression and Kaplan-Meier methods. A total of 306 articles were retrieved, 50 of which reporting 57 MPNST were included. The lesion showed a predilection for the mandible (n = 18/31.57%) of middle-aged adults (~40.5 years) with a male/female ratio of 1.1:1. The individuals were mostly symptomatic with a mean evolution time of 9.6 months. Surgical removal plus adjuvant therapy (especially radiotherapy) was the main approach (51.86%). Recurrence was reported in 39.62% of cases. Nodal and distant metastases were identified in 28.26% and 26.66% of cases, respectively. The 2-year cumulative survival rate was 55%. Independent predictors of poor survival were the presence of neurofibromatosis type 1 (p = 0.04) and distant metastases (p = 0.004). The diagnosis of MPNST is challenging due to the variety of its clinical and histopathological presentations. Local aggressiveness and the potential for metastases are common outcomes of this neoplasm.
Assuntos
Neoplasias Bucais , Neoplasias de Bainha Neural , Neurofibromatose 1 , Neurofibrossarcoma , Adulto , Terapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Neoplasias de Bainha Neural/diagnóstico , Neoplasias de Bainha Neural/patologia , Neoplasias de Bainha Neural/cirurgia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibromatose 1/terapiaRESUMO
Stereotactic radiosurgery (SRS) poses a minimal but important risk for tumour transformation, typically occurring 8-10 years after the treatment. Malignant peripheral nerve sheath tumour (MPNST) is the most common tumour arising from a vestibular schwannoma treated with SRS, with only 14 cases previously reported. We present the fifteenth case and describe its evolution and clinical course. A 56-year-old man without a history of neurofibromatosis was diagnosed 9 years prior with a vestibular schwannoma. SRS to the residual tumour was given 3 months later. During the current hospitalisation, he was reoperated where histology confirmed a MPNST. All 15 MPNST cases were analysed, showing a 77% female predominance presenting a malignant transformation at a mean age of 51. The diagnosis was made at a mean time of 74 months after SRS. The mean survival time after diagnosis was 16 months. MPNST arising from benign vestibular schwannoma after SRS treatment is an uncommon but devastating complication.
Assuntos
Neurofibromatoses , Neurofibromatose 1 , Neurofibrossarcoma , Neuroma Acústico , Radiocirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neuroma Acústico/cirurgiaRESUMO
Introdução: O schwanoma é um tumor pouco frequente que se origina das células de Schwann que recobrem os prolongamentos nervosos. A malignidade desses tumores é ainda mais rara, correspondendo a 5-10% de todos os sarcomas. O prognóstico é reservado, mesmo após completa ressecção cirúrgica. Relato do caso: Paciente do sexo masculino, 79 anos, apresentou-se com lesão crostosa em perna esquerda com dois meses de evolução. A biópsia da lesão inicialmente revelou sarcoma pleomórfico, mas seu padrão imuno-histoquímico confirmou tumor maligno da bainha do nervo periférico. O tumor desenvolveu metástase linfonodal, pulmonar e adrenal dentro de poucos anos após o diagnóstico inicial. A ressecção do tumor adrenal não foi possível. O paciente desenvolveu síndrome paraneoplásica e teve piora do estado clínico, evoluindo a óbito. Conclusão: Tendo em vista a forma inespecífica do aparecimento do tumor e sua agressividade, é importante ressaltar o papel da ressecção cirúrgica ampla no seu tratamento. Além disso, fica evidente a necessidade de novos relatos desse tipo de neoplasia para melhor definição de uma conduta mais apropriada, principalmente em casos de recorrência ou disseminação metastática
Introduction: Schwannoma is a rare type of tumor which grows from Schwann cells, that protect nerve extensions. The malignancy of these tumors is even rarer, corresponding to 5-10% of all sarcomas. The prognosis is dismal, even after complete surgical resection. Case report: A 79-year-old male patient presented with a crusted lesion in his left leg with two months of evolution. Initially, the biopsy of the lesion revealed pleomorphic sarcoma, but its immunohistochemical pattern was peripheral nerve sheath malignant tumor. The tumor developed lymph node, lung, and adrenal metastasis within a few years after the first diagnosis. Adrenal tumor resection was not possible. The patient developed paraneoplastic syndrome and his clinical status worsened, progressing to death. Conclusion: In view of the nonspecific form of tumor appearance and its aggressiveness, it is important to highlight the role of wide surgical resection in its treatment. In addition, it is clear that new case reports of this type of neoplasia are necessary for better definition of more appropriate conducts, especially in recurrence or metastatic cases
Introducción: El schwannoma es un poco común, el cual se origina en las células de Schwann, que cubren las extensiones nerviosas. La malignidad de estos tumores es aún más rara, y representa 5-10% de todos los sarcomas. El pronóstico es reservado, incluso después de una resección quirúrgica completa. Relato del caso: Varón de 79 años que presenta una lesión costrosa en la pierna izquierda a los dos meses de evolución. La biopsia de la lesión reveló inicialmente un sarcoma pleomórfico, pero su patrón inmunohistoquímico era un tumor maligno de la vaina del nervio periférico. El tumor desarrolló metástasis en los ganglios linfáticos, pulmones y suprarrenales pocos años después del diagnóstico. La resección del tumor suprarrenal no fue posible. El paciente desarrolló síndrome paraneoplásico y empeoró el estado clínico, progresando hasta la muerte. Conclusión: Dada la forma inespecífica de aparición del tumor y su agresividad, es importante destacar el papel de la resección quirúrgica amplia en su tratamiento. Además, existe una clara necesidad de nuevos informes de este tipo de neoplasias para definir mejor un abordaje más adecuado, especialmente en casos de recurrencia o diseminación metastásica
Assuntos
Humanos , Masculino , Idoso , Neoplasias do Sistema Nervoso Periférico , Neurofibrossarcoma , Glândulas Suprarrenais , Pulmão , Metástase Neoplásica , NeurilemomaRESUMO
O Schwannoma trata-se de um tipo de tumor maligno da bainha dos nervos periféricos (TMBNP) incomum em pequenos animais. Não há predileção por raça e são mais comumente diagnosticados em cães de meia idade a idosos, podendo acometer diferentes regiões do corpo, entretanto, há raros relatos de acometimento em face. O presente trabalho tem por objetivo relatar um caso de TMBNP em face de um cão, macho, SRD, de 14 anos. O paciente apresentava uma formação de aproximadamente 10 cm em região facial esquerda, acometendo maxila e arco zigomático, com comprometimento também de seu globo ocular. Considerou-se a remoção cirúrgica paliativa devido a extensão da formação e seu posterior diagnóstico se deu através do exame histopatológico. Após a evolução clínica desfavorável que o paciente apresentou após o procedimento cirúrgico e devido ao prognóstico desfavorável frente ao diagnóstico de TMBNP, optou-se então pela eutanásia do paciente.
Schwannoma is a type of malignant tumor of the peripheral nerve sheath (TMBNP) uncommon in small animals. There is no predilection for breed and are most commonly diagnosed in middle-aged to elderly dogs, which may affect different regions of the body, however, there are rare reports of involvement in the face. dog, male, SRD, 14 years old. The patient had a formation of approximately 10 cm in the left facial region, affecting the maxilla and zygomatic arch, also affecting his eyeball. Consider whether the palliative surgical removal due to the extension of the formation and its subsequent diagnosis was made through histopathological examination. After the unfavorable clinical evolution that the patient presents after the surgical procedure and due to the unfavorable prognosis regarding the diagnosis of TMBNP, the patient was then euthanized.
Assuntos
Animais , Cães , Cães/anormalidades , Cães/cirurgia , Neurofibrossarcoma/classificação , Neurofibrossarcoma/diagnóstico , Sistema NervosoRESUMO
O Schwannoma trata-se de um tipo de tumor maligno da bainha dos nervos periféricos (TMBNP) incomum em pequenos animais. Não há predileção por raça e são mais comumente diagnosticados em cães de meia idade a idosos, podendo acometer diferentes regiões do corpo, entretanto, há raros relatos de acometimento em face. O presente trabalho tem por objetivo relatar um caso de TMBNP em face de um cão, macho, SRD, de 14 anos. O paciente apresentava uma formação de aproximadamente 10 cm em região facial esquerda, acometendo maxila e arco zigomático, com comprometimento também de seu globo ocular. Considerou-se a remoção cirúrgica paliativa devido a extensão da formação e seu posterior diagnóstico se deu através do exame histopatológico. Após a evolução clínica desfavorável que o paciente apresentou após o procedimento cirúrgico e devido ao prognóstico desfavorável frente ao diagnóstico de TMBNP, optou-se então pela eutanásia do paciente.(AU)
Schwannoma is a type of malignant tumor of the peripheral nerve sheath (TMBNP) uncommon in small animals. There is no predilection for breed and are most commonly diagnosed in middle-aged to elderly dogs, which may affect different regions of the body, however, there are rare reports of involvement in the face. dog, male, SRD, 14 years old. The patient had a formation of approximately 10 cm in the left facial region, affecting the maxilla and zygomatic arch, also affecting his eyeball. Consider whether the palliative surgical removal due to the extension of the formation and its subsequent diagnosis was made through histopathological examination. After the unfavorable clinical evolution that the patient presents after the surgical procedure and due to the unfavorable prognosis regarding the diagnosis of TMBNP, the patient was then euthanized.(AU)
Assuntos
Animais , Cães , Neurofibrossarcoma/classificação , Neurofibrossarcoma/diagnóstico , Cães/anormalidades , Cães/cirurgia , Sistema NervosoRESUMO
Objetivo: Describir el diagnóstico y la resolución de un caso clínico de schwannoma maligno mandibular, una neopla- sia extremadamente rara en la región maxilofacial y con alto porcentaje de mortalidad. Caso clínico: Un paciente masculino de 56 años de edad acudió a la consulta por trismus, dolor y no cierre de la herida posextracción en maxilar inferior, con una evolución de tres meses. Se le solicitó una tomografía computada que evidenció lesión osteolítica y pieza dentaria retenida en la zona afectada. Se realizó la biopsia excisional. El diagnósti- co fue schwannoma maligno mandibular. Nueve meses des- pués del tratamiento quirúrgico y coadyuvante, el paciente falleció. Conclusiones: La derivación a un especialista y el análisis histopatológico tempranos permiten diagnosticar a tiempo este tipo de neoplasias. El schwannoma maligno es una enfermedad agresiva, con una tasa de supervivencia baja, pero la intervención oportuna y el diagnóstico precoz mejoran el pronóstico y la sobrevida del paciente (AU)
Aim: Describe the diagnosis and resolution of a clini- cal case of malignant mandibular schwannoma. An extremely rare neoplasm in the maxillary facial region, and with a high percentage of mortality. Clinical case: A 56-year-old male patient attended the consultation due to trismus, pain and non-closure of the post-extraction wound in the lower jaw, with an evolution of three months. He was asked for a computed tomography scan, that showed an osteolytic lesion and retained tooth in the af- fected area. Excisional biopsy is performed. The diagnosis was malignant mandibular schwannoma. After surgical and adjuvant treatment, the patient dies nine months later. Conclusion: Early referral to a specialist and histo- pathological analysis will allow to diagnose this type of neoplasms early. Malignant schwannoma is recorded as an aggressive disease with a low survival rate, but timely inter- vention and early diagnosis improves the prognosis and pa- tient survival (AU)
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Mandibulares , Neurofibrossarcoma/cirurgia , Neurofibrossarcoma/diagnóstico , Argentina , Prognóstico , Biópsia , Neurofibrossarcoma/mortalidade , Neurofibrossarcoma/diagnóstico por imagem , Procedimentos Cirúrgicos Bucais , Unidade Hospitalar de OdontologiaRESUMO
Background: Malignant peripheral nerve sheath tumors are neurogenic neoplasms that originate from cells that surroundthe axons of peripheral nerves. Surgery is the treatment of choice for peripheral nerve sheath tumors. They have a betterprognosis when the lesion is in the extremity of a limb and the surgeon leaves wide peripheral margins after resection.However, this procedure makes local treatment a challenge due to difficult wound healing in this region. This report describes a successful case involving the use of a meshed skin graft immediately after resection of a neurofibrosarcoma inthe distal region of the radius bone of a dog.Case: A 6-year-old Boxer bitch weighing 40 kg was admitted with a history of a round, firm, non-ulcerated skin noduleattached to the lateral side of the distal region of the right radius bone, which had been present for about 40 days. Fineneedle aspiration cytology of the lesion showed the presence of mesenchymal cells, suggesting a sarcoma. Thus, the decision was made for an incisional biopsy to confirm the diagnosis and for the preparation of a subdermal pattern tubular flapfor subsequent rotation and transposition to close the wound that would be formed after the complete removal of the lesion.After the 7th postoperative day, the diagnosis of low-grade neurofibrosarcoma was confirmed and due to the presence ofnecrotic onset in the middle portion of the tubular flap, further surgical intervention was scheduled for the resection of thetube flap, en bloc removal of the neoplastic lesion with peripheral margins of 2 cm, and wound closure with a free skingraft. A mesh skin graft was made with a portion of the right flank skin. The mesh graft was carefully implanted on therecipient bed using simple interrupted sutures with a 3-0 non-absorbable monofilament suture material. A dressing madewith water-based sterile lubricating solution and...(AU)
Assuntos
Animais , Feminino , Cães , Transplante de Pele/veterinária , Telas Cirúrgicas/veterinária , Rádio (Anatomia)/cirurgia , Neurofibrossarcoma/cirurgia , Neurofibrossarcoma/veterinária , Neoplasias de Bainha Neural/veterináriaRESUMO
Background: Malignant peripheral nerve sheath tumors (MPNSTs) are rare, aggressive, relapsing, metastatic cutaneousneoplasms of mesenchymal origin. So far, no account on the association of this disease with hypertrophic osteopathy (HO)in dogs is available in the literature. Current theories on the possible causes of HO suggest that this disease may be triggered by a primary neoplasm as well as by its metastasis. The objective of this work is to report the clinical, cytological,radiographic, histopathological, and immunohistochemical aspects of a dog affected by MPNST and HO.Case: A 13-year-old female mongrel dog was presented with a history of ulcerated nodular lesion on the skin of the flank.Several ulcerated and non-ulcerated tumors were observed on the thorax, neck, and head at the physical exam. Cytological examination of the nodules revealed presence of mesenchymal cells with a malignant aspect. Complete blood countrevealed anemia. There were no alterations in the biochemical tests performed. Thoracic radiographs showed presence of anodular interstitial pattern in the cranial, medial, and caudal lobes of the lungs. To improve quality of life of the patient, theveterinary team opted for surgical excision of the tumoral ulcerations. Slight claudication in the pelvic limbs was noticedprior to the surgery. Histopathological analyses of the excised nodules verified the existence of malignant mesenchymalneoplasia, which was categorized as peripheral nerve sheath tumor after immunohistochemical examination. Additionalcutaneous tumors emerged after surgical excision, along with increased claudication, edema, and pain in the legs. Completeblood count revealed persistent anemia, lymphopenia, monocytosis, and neutrophilia. Radiographs showed an increasein the number and size of the nodules. Radiography of the limbs showed presence of palisading periosteal reaction, andincreased...(AU)