Neurofibromatose tipo 1 com acometimento do nervo infraorbital: relato de caso / Neurofibromatosis type 1 with infraorbital nerve involvement: a case report

A neurofibromatose tipo 1 é uma doença autossômica dominante rara, com manifestações clínicas diversas. Sua apresentação mais marcante é a presença de neurofibromas (tumores da bainha neural) cutâneos ou internos, que também podem ocorrer de forma esporádica, associados a outras manifestações sistêmicas, como manchas café com leite e lesões oculares. Por serem tumores da bainha de mielina, os neurofibromas podem acometer diversos nervos periféricos, incluindo nervos da face. Apresentamos o caso de um paciente de 1 ano, portador de neurofibromatose tipo 1, com neurofibroma em nervo infraorbital direito, com o acesso proposto para tratamento cirúrgico que fornecesse ampla visualização e acesso a lesão, sem comprometimento estético importante, permitindo preservação de partes moles e adequado crescimento facial.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with multiple clinical manifestations. Its most significant presentation is cutaneous or subcutaneous neurofibromas (myelin sheath tumors), which may be associated with other systemic manifestations such as caféau- lait spots and eye involvement. Neurofibromas can affect several peripheral nerves, including the facial nerves. This report presents a case of a 1-year-old patient with NF1 with right infraorbital nerve neurofibroma in which the proposed access for surgical treatment allowed adequate visualization of the tumor with good aesthetic results, preservation of the soft tissues, and normal facial growth.

Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1 / Tumor maligno da bainha de nervo periférico com e sem Neurofibromatose tipo 1

ABSTRACT Objective In this study, we review the institution’s experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). Methods Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3–84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors. Results Mean tumor sizes were 15.8 ± 8.2 cm and 10.8 ± 6.3 cm for patients with and without NF1, respectively. Combined two- and five-year overall survival was 48.5% and 29%. Multivariate analysis confirmed the association of tumor size greater than 10 cm (hazard ratio (HR) 2.99; 95% confidence interval (CI) 1.14–7.85; p = 0.0258) and presence of NF1 (HR 3.41; 95%CI 1.88–6.19; p < 0.001) with a decreased overall survival. Conclusion Tumor size and NF1 status were the most important predictors of overall survival in our population.

RESUMO Objetivo Relatamos a experiência institucional no tratamento de tumores malignos da bainha de nervo periférico (TMBNP) e comparamos o prognóstico entre pacientes com e sem neurofibromatose tipo 1 (NF1). Métodos Foram incluídos neste estudo 92 pacientes num período de 20 anos. Foi realizada uma análise retrospectiva dos prontuários, das características do tumor e do tratamento. A idade mediana era 43,5 anos (variação 3–84 anos) e 55,4% dos pacientes eram mulheres; 41 pacientes (44,6%) tinham tumores associados à NF1. Resultados O diâmetro médio dos tumores era 15,8 ± 8,2cm e 10,8 ± 6,3cm para pacientes com e sem NF1, respectivamente. A sobrevida combinada em 2 e 5 anos foi de 48,5% e 29%. A análise multivariada confirmou que o tamanho do tumor acima de 10cm (hazard ratio (HR) 2.99; 95% intervalo de confiança (IC) 1.14–7.85; p = 0.0258) e a presença de NF1 (HR 3.41; 95%IC 1.88–6.19; p < 0.001) estão associados a uma pior sobrevida. Conclusões O tamanho do tumor e a associação com NF1 foram os preditores mais importantes de sobrevida na nossa população.

Malignant peripheral nerve sheath tumor of the vagina

Malignant peripheral nerve sheath tumors [MPNSTs] usually develop in major nerve trunks, giving rise to tumors in the proximal portions of the upper and lower extremities and trunk. The MPNSTs primarily occurring in the female genital tract are quite rare. We describe a case of MPNST of the vagina and discuss its diagnosis and treatment. This patient was treated definitively with radical local excision and is well with no signs of recurrence 2 years postoperatively

Description of a neural sheath tumor of the trigeminal nerve: immunohistochemical and electron microscopy study

CONTEXT: Malignant neural sheath tumors of the trigeminal nerve affecting the nasal cavity and the paranasal sinuses are extremely rare. With conventional optical microscopy, their identification is difficult, and it is necessary to confirm them by means of electron microscopy and immunohistochemical techniques. CASE REPORT: The patient was a 41-year-old woman with a ten-month progressive history of pain followed by painful edema in the left facial region, and with symptoms of bleeding, secretion and nasal obstruction. Studies with imaging methods suggested the presence of an expansive process in the left nasal and paranasal cavities. In the biopsy, the histopathological findings from optical microscopy were suggestive of a tumor of neural origin in the trigeminal nerve. Immunohistochemical and electron microscopy studies confirmed that it was a malignant tumor of the neural sheath of the trigeminal nerve. We describe the clinical, radiological, and histological features of this tumor and review the literature.

CONTEXTO: O tumor maligno da bainha neural do trigêmeo que acomete a cavidade nasal e os seios paranasais é extremamente raro. A microscopia óptica habitual sua identificação é difícil, sendo necessária a confirmação através de microscopia eletrônica e de técnicas imunoistoquímicas. RELATO DE CASO: A paciente era uma mulher de 41 anos com história de 10 meses de progressiva dor seguida de edema álgico em região facial à esquerda, e de sintomas de sangramento, secreção e obstrução nasal. Estudos com métodos de imagem sugeriam a presença de processo expansivo em cavidades nasais e paranasais à esquerda. A biopsia, os achados histopatológicos à microscopia óptica foram sugestivos de tumor de origem neural no trigêmeo. Estudos imunoistoquímico e por microscopia eletrônica confirmaram se tratar de neoplasia maligna da bainha neural do trigêmeo. Descrevemos as características clínicas, radiológicas e histológicas deste tumor, e revisamos a literatura.