Tumor maligno de las vainas nerviosas periféricas en la región maxilofacial: schwannoma maligno mandibular / Malignant tumor of peripheral nerve sheaths in the maxillofacial region: malignant mandibular schwannoma

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)

Neurofibrosarcoma of the mandible derived from neurofibromatosis

Neurofibrosarcoma is a rare malignant neoplasm of the head and neck region and accounts for 8% to 16% of all cases. Its origin is varied and may stem from cells of the peripheral nerves, develop de novo, or result from malignant transformation of preexisting neurofibromas. Because the features of neurofibrosarcomas are heterogeneous, the data retrieved during clinical examinations are of great aid for diagnosis. In this case, owing to clinical features and the fact that the patient had neurofibromatosis type 1, the hypothesis of neurofibrosarcoma was promptly established. The final diagnosis was confirmed by associating clinical, imaging, and pathological data. After the treatment, the patient has been followed up for 10 years, with no evidence of recurrence.

Sarcoma neurogénico de la mama masculina. Presentación de un caso / Male breast neurogenic sarcoma. A case

RESUMEN El cáncer de mama en el sexo masculino es una entidad clínica poco frecuente, tiene una presentación unimodal a los 71 años de edad, generalmente se presenta de manera similar a la forma en que se presenta en el sexo femenino. Su causa es poco conocida. Los sarcomas son tumores de componentes mesenquimatoso que constituyen del 0,2-1 % de todos los tumores de mama, y menos del 5 % del total. El sarcoma neurogénico, a su vez, es un tumor extremadamente raro. Representa del 1-2 % aproximadamente, de los tumores de los nervios periféricos con transformación maligna. Debido a la rareza geográfica e histopatológica de este tipo y mucho más en pacientes masculinos se presentó este caso. Paciente masculino de 57 años de edad, con el diagnóstico de un sarcoma de la mama derecha. Se le realizó una mastectomía radical más quimioterapia y radioterapia adyuvante. Los estudios de inmunohistoquímicos permitieron llegar al diagnóstico de sarcoma neurogénico.

ABSTRACT Breast cancer in men (BCM) is a rare clinical entity that has a unimodal presentation at the age of 71 years, and generally presents in a similar way it presents in the female sex. Its etiology remains almost unknown. Sarcomas are tumors of mesenchymal components representing from 0.2 to 1 % of all the breast tumors and less than 5 % of the total. The neurogenic sarcoma is also an extremely rare tumor. It represents around 1-2 % of the peripheral nerves tumors with malignant transformations. Due to location and histopathological rarity of this kind of tumors, much more in male patients, the authors presented the case of a male patient, aged 57 years, with the diagnosis of a left breast sarcoma. He undergone a radical mastectomy plus adjuvant chemotherapy and radiotherapy. The immunohystochemical studies allowed arriving to the diagnosis of neurogenic sarcoma.

Orbitectomía en monobloque en un paciente con sarcoma neurogénico de la órbita / Single block orbitectomy in a patient with neurogenic orbital sarcoma

El sarcoma neurogénico es un tumor maligno que se origina en las células de Schwann de la vaina del revestimiento de los nervios periféricos y son poco frecuentes en la órbita. Se presenta un paciente de 23 años de edad, masculino, blanco, con antecedentes de neurofibromatosis tipo I, con desplazamiento anteroinferior del globo ocular izquierdo, dolor intenso y pérdida de la visión de 4 meses de evolución. Al examen oftalmológico se constató proptosis severa con descenso del globo ocular izquierdo, oftalmoplejia total, quemosis severa, hiperemia, opacidad corneal y aumento de volumen del párpado superior. En los estudios imagenológicos se evidenció lesión tumoral que ocupaba la totalidad del compartimiento orbitario sin infiltración de sus paredes óseas y con desplazamiento del globo ocular por fuera del reborde orbitario. Se realizó un abordaje quirúrgico combinado, y se logró una orbitectomía en monobloque con resección total del tumor y reconstrucción con colgajo rotado de músculo temporal ipsilateral. El estudio histopatológico informó la presencia de un sarcoma neurogénico de la órbita y se complementó con tratamiento adyuvante con radioterapia. El paciente se mantuvo controlado durante un año y a partir de esta fecha comenzó la aparición secuencial de varias lesiones a distancia(AU)

Neurogenic sarcoma is a malignant tumor that starts in Schwann cells of the peripheral nerves sheath and is rarely found in the orbit. Here is a 23 year old, male, Caucasian patient, with a history of Type-I Neurofibromatosis, and a left eye fore and lower side displacement of the left eyeball, intense pain and loss of vision for 4 months. A severe proptosis and the lowering of the left eyeball was detected during the ophthalmologic examination, as well as total ophthalmoplegia, severe chemosis, hyperemia, corneal opacity and increased upper eyelid volume. Imaging studies revealed a tumor lesion occupying the whole orbital compartment, with no bone wall infiltration, but causing the displacement of the eyeball out of the orbit border. A combined surgical approach was performed consisting in a single block orbitectomy with total tumor resection, as well as the reconstruction with the ipsilateral temporal muscle rotated flap. The histopathology study showed the presence of an neurogenic orbital sarcoma, so an adjuvant radiotherapy treatment was indicated. The patient was followed up for a year, after which the sequential occurrence of several lesions began(AU)

Extracranial neurogenic tumors of the head and neck, / Tumores neurogênicos extracranianos na cabeça e pescoço

ABSTRACT INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis. OBJECTIVE: To report the experience of a tertiary care department. METHODS: Forty-two patients with head and neck peripheral neurogenic tumors were retrospectively analyzed and evaluated from 1977 to 2013. The preoperative diagnosis was confirmed by biopsy or imaging study. RESULTS: The mean age was 41.7 and 15 patients (36%) were male. The mean size was 5.5 cm and 26 (61%) were located laterally in the neck. Most tumors (39.9%) presented as an asymptomatic neck mass. Most (39.9%) were resected through a neck approach. Cranial nerves were the commonest site of origin. CONCLUSIONS: Extracranial neurogenic tumors presented with a mean size of 5.5 cm, were located laterally in the neck, normally had their origin from cranial nerves, and their resection approach is cervical.

Resumo INTRODUÇÃO: Tumores dos nervos periféricos tipicamente derivam das células de Schwann da bainha dos nervos periféricos. Por serem incomuns, devem ser lembrados no diagnóstico diferencial pré-operatório. OBJETIVO: Relatar a experiência de serviço de referencia terciária. MÉTODO: De 1977 a 2013, 42 pacientes com tumores neurogênicos periféricos da cabeça e pescoço foram operados e analisados retrospectivamente. A confirmação diagnóstica pré-operatória deu-se por biópsia ou método de imagem. RESULTADOS: A média da idade foi de 41,7 anos, sendo 15 indivíduos (36%) do gênero masculino. O tamanho médio foi de 5,5 cm e 26 (61%) localizavam-se na face lateral do pescoço. A maior parte (39,9%) apresentou-se como tumor palpável assintomático. A maioria (39,9%) foi ressecadapor acesso cervical. A maioria originou-se de nervos cranianos. CONCLUSÕES: Tumores neurogênicos extracranianos apresentam-se com tamanho médio de 5,5 cm, na face lateral do pescoço, costumam originar-se de nervos cranianos e ser ressecados por via cervical.

Tumor maligno de la vaina de nervio periférico: y neurofibromatosis / Malignant tumor of the peripheral nerve shealth: and neurofibromatosis

Reportamos el caso de paciente femenina de 29 años de edad, diagnóstico de neurofibromatosis, en segundo mes de posoperatorio de resección local lesión en flanco izquierdo, biopsia reportó tumor mesenquimal maligno, presenta masa de rápido crecimiento en cicatriz quirúrgica. Examen físico: tumor en hemiabdomen izquierdo, duro, fijo, piel ulcerada. Resonancia magnética nuclear evidencia masa retroperitoneal con extensión a cavidad, pared abdominal, lobulada, desplaza grandes vasos, uréter, riñón izquierdo colon descendente. La laparotomía evidencia tumor retroperitoneal que desplaza grandes vasos, uréter, riñón, colon izquierdo, infiltra pared abdominal, piel, lobulado, encapsulado. Biopsia e inmunohistoquímica con proteína S-100 y LEU 7 son compatibles con tumor maligno de la vaina de los nervios periféricos asociado a neurofibromatosis alto grado de malignidad. La sobrevida es 15 por ciento-30 por ciento a 5 años. El tratamiento consiste en resección con biopsia intraoperatoria para comprobar negatividad de márgenes y radioterapia posoperatoria. Quimioterapia en casos de metástasis a distancia.

We report a case 29 year old female with history of neurofibromatosis and local resection of a left flank tumor. The pathology of surgical specimen reports malignant mesenchymal neoplasm. Two months after the procedure refers rapidly growing tumor located underneath the surgical scar. Physical examination: tumor in left lower quadrant of the abdomen, firm, with ulcerated skin. The magnetic nuclear resonance reveals retroperitoneal tumor extending into abdominal cavity, displacing aorta, vena cava, left kidney, left urether, descending colon. Laparotomy is performed, a retroperitoneal tumor infiltrating abdominal wall and skin, lobulated. The pathology and immunohistochemistry stains with S-100 protein and LEU 7 was compatible with peripheral malignant nerve sheath tumor associated neurofibromatosis malignant high grade neoplasia. Five year survival rates are low: 15 %-30 %. Management of these tumors includes wide local resection with intraoperative frozen section of surgical margins, postoperative external beam radiotherapy and chemotherapy for metastatic disease.

Multiple neurofibrosarcoma in a patient with Neurofibromatosis-1 : a case report

Neurofibromatosis-1 is a multi-systemic; genetic and progressive disease. The patients have an increased risk of malignant transformation. Neurofibrosarcoma is rare but when it occurs; may pursue an aggressive course. This case report is of a 30-year-old female patient who first presented at the University of Calabar Teaching Hospital in November 2004 with a neurofibrosarcoma of the right foot complicating a neurofibroma of the same foot first noticed 27 years earlier. She had a right below knee amputation. Fourteen months later she presented with a huge tumour involving the right lower and middle lobes for which a right lower and middle lobectomy was done. The histology of the specimen confirmed neurofibrosarcoma. In the developing world late presentation is common with increased risk of malignant transformation. Early diagnosis and follow-up; genetic coun- selling of patients and relations on early presentation would improve outcome

Leiomiossarcoma, rabdomiossarcoma embrionário e tumor maligno da bainha de nervo periférico: relato de três casos de sarcomas retroperitoneais atípicos / Leiomyosarcoma, embrionary rhabdomyosarcoma and malignant peripheral nerve sheath tumor: report of three cases of atypical retroperitoneal sarcomas

São relatados três casos de sarcomas retroperitoneais primários atípicos: leiomiossarcoma, rabdomiossarcoma embrionário e tumor maligno da bainha de nervo periférico (antigamente neurofibrossarcoma ou neurossarcoma). São lesões incomuns e geralmente diagnosticadas tardiamente, caracterizadas por volumosas e heterogêneas massas no retroperitônio. A tomografia computadorizada com o uso de contraste endovenoso é um método adequado na avaliação destas entidades e de sua relação com órgãos e estruturas adjacentes.

Sarcoma anorretal: relato de caso e revisäo da literatura / Anorectal sarcoma: report of a case and review of the literature

Os autores descrevem um caso de sarcoma neurogênico anorretal cuja sintomatologia foi dor e tumoraçäo perineal, juntamente com afilamento das fezes. O diagnóstico anatomopatológico foi feito por meio de provas imunohistoquímicas. O tratamento constou de amputaçäo abdominoperineal do reto, considerado o melhor procedimento cirúrgico, quando a lesäo é maior do que dois centímetros. O prognóstico está relacionado com o estadiamento e como se trata de doença localizada, a expectativa de sobrevivência é boa