Brachial plexus peripheral nerve sheath tumors (PNSTs): clinical and surgical management in the pediatric population.

PURPOSE: Peripheral nerve sheath tumors (PNSTs) are rare in pediatric patients, especially in the brachial plexus. Research on PNSTs is lacking. This article presents a retrospective cohort study of pediatric patients diagnosed and treated with PNSTs, specifically brachial plexus tumors. METHODS: All pediatric patients intervened in a single center between 2007 and 2023 with brachial plexus tumors were systemically analyzed. RESULTS: Eleven pediatric patients with 14 brachial plexus PNSTs were studied. The gender distribution was 64% female and 36% male, with an average age of 10.7 years. Ninety-one percent had a previous NF-1 diagnosis. Right brachial plexus presented a higher prevalence (64%). Pain, Tinel's sign, and stiffness masses were common during diagnosis. Motor deficits were noted in 43% of the patients. Surgery was indicated for symptoms, particularly pain and rapid growth, increasing malignancy risk. Due to suspected malignancy, an en bloc resection with safety margins was performed. Among the patients, 57% received a histopathological diagnosis of MPNST (malignant peripheral nerve sheath tumor). Treatment included radiotherapy and chemotherapy. Clinical follow-up was conducted for all cases, involving clinical and oncological evaluations for all MPNSTs. CONCLUSIONS: This article present a series of pediatric brachial plexus tumors, especially in NF-1, and emphasizes the importance of thorough evaluation for this group. Swift diagnosis is crucial in pediatrics, enabling successful surgery for small lesions with limited neurological symptoms, improving long-term outcomes. Prompt referral to specialized services is urged for suspected masses, irrespective of neurological symptoms. Benign tumor postsurgical progression shows better outcomes than MPNSTs, with complete resection as the primary goal. Needle-guided biopsy is not recommended.

Hybrid Neurofibroma/Schwannoma of the Oral Cavity: A Rare Case Report and Literature Review.

Hybrid peripheral nerve sheath tumors show combined features of more than one type of conventional benign peripheral nerve sheath tumors. There are few cases reported of hybrid peripheral nerve sheath tumors in the head and neck region. A 68-year-old female patient was referred for evaluation of an oral swelling lasting five years. Intraoral examination revealed a small mobile nodule located in the lower vestibule. The patient underwent excisional biopsy and microscopic evaluation showed typical features of neurofibroma enclosing areas with palisading nuclei compatible with Antoni A pattern, which are seen in schwannomas. These regions showed strong and diffuse immunoreactivity for S100 protein and moderate positivity in the neurofibroma area. CD34 was positive in the neurofibroma area and entrapped axons were positive for neurofilament. The final diagnosis was oral hybrid neurofibroma-schwannoma tumor. Hybrid peripheral nerve sheath tumors, although extremely rare, may arise within the oral cavity. To the best of our knowledge, this is the first neurofibroma-schwannoma tumor reported in the oral cavity. Recognizing hybrid peripheral nerve sheath tumors as a distinct clinicopathological entity is important because they may also be associated with syndromic disorders.

Case report: Benign and malignant tumors in adult patients with neurofibromatosis type 1: a comprehensive case series from a large oncologic reference center.

Purpose: Neurofibromatosis type 1 (NF1) is a complex, multisystem disorder that is characterized, among other features, by a higher risk of developing benign and malignant tumors. Despite NF1 being one of the most common autosomal dominant genetic disorders, data from adult individuals in several world regions remain elusive, including Hispanics. Methods: The present is a retrospective cohort study conducted among adult patients with a confirmed diagnosis of NF1 who attended a single cancer-reference center, the Instituto Nacional de Cancerología in Mexico City from 2001 to 2021. Data were extracted from electronic health records and collected in an anonymous database by an NF1-expert physician in order to obtain demographic characteristics and detailed information regarding the development of tumors among this patient subgroup. All patients with malignant tumors or with benign tumors, which severely affected their quality of life, were included in this study. Results: Patient records were reviewed from 2001 to 2021. A total of N = 29 patients met the criteria, with a higher proportion of female compared with male subjects [N = 22 (75.9%) vs. N = 7 (24.1%)]. Patients had a mean age at diagnosis of tumors of 32.2 years (SD = 11.2 years). In terms of malignant neoplasms, the most frequent malignant tumor presented by patients in this cohort was malignant peripheral nerve sheath tumors (N = 7, 24.1%), this was followed by breast cancer (n = 4, 13.8% among all patients, 18.2% among female patients). Other tumors also identified in this cohort included melanoma, gastrointestinal stromal tumors, and rectal cancer. Conclusion: In Mexico, patients diagnosed with NF1 develop diverse tumors as adults. As described in other studies, the most frequent malignant tumor in this patient population is the malignant peripheral nerve sheath tumor. Further studies are required to increase the scarce information available for adult Hispanics with NF1.

Tumor maligno de la vaina nerviosa periférica del nervio vago: Reporte de un caso

Resumen Los tumores malignos de la vaina nerviosa forman parte del 5% de los sarcomas de partes blandas. Si bien son infrecuentes, su incidencia aumenta en caso de neurofibromatosis tipo 1. Cuando estos tumores están ubicados en cabeza y cuello, suelen ser asintomáticos, por lo que su diagnóstico es tardío. El tratamiento es principalmente quirúrgico, con una tasa de recidiva importante y pobre sobrevida a los 5 años. Se presenta el reporte de un caso de una paciente de 52 años con antecedentes de neurofibromatosis tipo 1 y un tumor maligno de vaina nerviosa periférica del nervio vago, localizado en el espacio parafaríngeo.

Abstract Malignant peripheral nerve sheath tumors are part of 5% of soft tissue sarcomas. Although they are infrequent, their incidence increases in case of neurofibromatosis type 1. When these tumors are located in the head and neck, they are usually asymptomatic, so their diagnosis is delayed. Treatment is primarily surgical, with a significant recurrence rate and poor 5-year survival. We present a case report of a 52-year-old patient with a history of type 1 neurofibromatosis and a malignant peripheral nerve sheath tumor of the vagus, located in the parapharyngeal space.

Neurofibromatosis tipos 1 y 2 / Neurofibromatosis type 1 and 2

La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)

Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)

Malignant Triton tumor: a rare cause of sciatic pain and foot drop.

Malignant peripheral nerve sheath tumors (MPNST) are very rare and are frequently localized in the buttocks, thigh, arm, or paraspinal region; one variant is the malignant Triton tumor, with rhabdomyosarcomatous differentiation. The authors present a challenging differential diagnosis of a sciatic pain and foot drop in a woman with history of lumbar disk herniation, which was found to be caused by a Triton tumor of the sciatic nerve. She underwent surgical excision, followed by radiation and chemotherapy. Malignant Triton tumor cases have rarely been described and reported in the literature. The recommended treatment is radical excision followed by high-dose radiotherapy and chemotherapy. The prognosis, although poor, depends on the location, grade, and completeness of surgical margins.

Os tumores malignos da bainha dos nervos periféricos (TMBNP) são muito raros e localizam-se mais frequentemente na região nadegueira, paraespinal, coxa ou braço; uma variante é o tumor de Triton maligno, com uma diferenciação rabdomiosarcomatosa. Apresentamos um diagnóstico diferencial desafiante de dor ciática e pé pendente em uma paciente com antecedentes de hérnia discal lombar, que se descobriu que era causada por um tumor de Triton do nervo ciático. A paciente foi submetida a excisão cirúrgica, seguida de radio e quimioterapia. Poucos casos de tumores de Triton malignos foram descritos e relatados na literatura. O tratamento recomendado é a excisão radical, seguida de radioterapia em alta dose e quimioterapia. O prognóstico, embora mau, depende da localização, do grau e das margens cirúrgicas da exérese.

Malignant Triton tumor: a rare cause of sciatic pain and foot drop / Tumor de Triton maligno: uma causa rara de dor ciática e pé pendente

ABSTRACT Malignant peripheral nerve sheath tumors (MPNST) are very rare and are frequently localized in the buttocks, thigh, arm, or paraspinal region; one variant is the malignant Triton tumor, with rhabdomyosarcomatous differentiation. The authors present a challenging differential diagnosis of a sciatic pain and foot drop in a woman with history of lumbar disk herniation, which was found to be caused by a Triton tumor of the sciatic nerve. She underwent surgical excision, followed by radiation and chemotherapy. Malignant Triton tumor cases have rarely been described and reported in the literature. The recommended treatment is radical excision followed by high-dose radiotherapy and chemotherapy. The prognosis, although poor, depends on the location, grade, and completeness of surgical margins.

RESUMO Os tumores malignos da bainha dos nervos periféricos (TMBNP) são muito raros e localizam-se mais frequentemente na região nadegueira, paraespinal, coxa ou braço; uma variante é o tumor de Triton maligno, com uma diferenciação rabdomiosarcomatosa. Apresentamos um diagnóstico diferencial desafiante de dor ciática e pé pendente em uma paciente com antecedentes de hérnia discal lombar, que se descobriu que era causada por um tumor de Triton do nervo ciático. A paciente foi submetida a excisão cirúrgica, seguida de radio e quimioterapia. Poucos casos de tumores de Triton malignos foram descritos e relatados na literatura. O tratamento recomendado é a excisão radical, seguida de radioterapia em alta dose e quimioterapia. O prognóstico, embora mau, depende da localização, do grau e das margens cirúrgicas da exérese.

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.

Metástasis craneal de tumor maligno de la vaina nerviosa periférica / Cranial metastasis of malignant tumor of the peripheral nerve sheath

Introducción: Los tumores malignos de la vaina nerviosa periférica (TMVNP) son tumores raros y heterogéneos, muy agresivos y localmente invasivos, siendo entre el 5 y 10% de todos los tumores de partes blandas. Alrededor del 50% de los tumores malignos de las vainas nerviosas se asocian a neurofibromatosis tipo 1. Caso clínico: Se presenta el caso de una paciente de 32 años portadora de neurofibromatosis tipo 1, que consulta por lesión ocupante de espacio en región axilar, encontrándose además en estudio por dolor neurálgico en región facial. Se realiza exéresis completa de la tumoración axilar con diagnóstico de Tumor Maligno de la Vaina Nerviosa Periférica (TMVNP). Debido a la falta de mejoría del dolor neurálgico y al agregado de alteraciones oculares se realiza nueva resonancia magnética por imágenes (RMI) de cráneo donde se visualiza lesión ocupante de espacio craneal. Se procede a la exéresis parcial de la lesión, cuyo diagnóstico anatomopatológico resulta en diagnóstico de neoplasia mesenquimática maligna de alto grado vinculable a Tumor maligno de la vaina nerviosa periférica. La paciente finalmente fallece 57 días post-operatorios. Conclusión: Los TMVNP poseen un mal pronóstico, con tasas de supervivencia a los 2 y 5 años aproximadamente, de 33 y 12%, siendo el tratamiento quirúrgico uno de los factores pronósticos independientes con mayor impacto en la supervivencia.

Introduction: Malignant peripheral nerve sheath tumors (MPNST) are rare and heterogeneous tumors, very aggressive and locally invasive, being between 5 and 10% of all soft tissue tumors. Clinical Case: A 32 year old patient with type 1 neurofibromatosis attends to the hospital with an axilar tumour. The patient was in study due to a trigeminal neuralgia. A complete remotion of the axilar lesion was achieved with the diagnosis of Malignant Peripheral Nerve Sheath Tumor (MPNST). Since the neuralgic symptom was worsening and new ophthalmological symptoms appeared, a new cerebral magnetic resonance imaging MRI was done. This study evidenced an intra-extra-cranial tumour. A partial resection of the mass was done. The pathological diagnosis was a mesenchymal tumor due to a MPNST metastasis. The patient died 57 days after the second surgery.Conclusion: Malignant peripheral nerve sheath tumors have a poor prognosis, with survival rates at 2 and 5 years of 33 and 12%, respectively, being surgical treatment one of the independent factors with more impact in outcome.

Complete removal of the spinal nerve sheath tumors. Surgical technics and results from a series of 30 patients / Remoção completa dos tumores da bainha dos nervos raquianos. Técnica cirúrgica e resultados de uma série de 30 pacientes

Objective: Observe whether a microsurgical gross total removal (GTR) of a spinal nerve sheath tumors (SNSTs) is safe and decreases the tumor recurrence. Method: We identify 30 patients with 44 SNSTs. Results: We operated upon 15 males and 15 females patients; mean age 40 years. GTR was achieved in 29 (96.6%) instances. Surgical mortality was 3.3% and the recurrence rate was 3.3%. The median follow-up time was 6.2 years. Conclusion: The surgical approach used in this group of patients afford that the great majority of tumors could be totally removed with low mortality and low recurrence rates, proving to be safe and effective. .

Objetivo: Observar se a ressecção microcirúrgica completa dos shwannomas ou neurofibromas raquianos é uma técnica segura e efetiva. Método: Foram operados 30 pacientes com 44 schwannomas ou neurofibromas intrarraquiano. Resultados: A remoção total da lesão ocorreu em 27 casos (96.6%). A taxa de mortalidade cirúrgica observada nesta série foi de 3.3%. O tempo médio de seguimento foi de 6.2 anos. Conclusão: A estratégia microcirúrgica empregada com esses pacientes propiciou a remoção total dos tumores na maioria dos pacientes, com baixa mortalidade e recidiva tumoral, mostrando ser segura e efetiva. .

Tumores de nervios periféricos de la cavidad bucal: esudio epidemiológico / peripheral nerve tumors of the oral cavity: epidemiological study

Los tumores neurales son lesiones oriundas de los nervios periféricos, siendo raros en la cavidad bucal. Estas lesiones incluyen el neurofibroma, neuroma traumático, schwanoma tumor de células granulares y el neuroma encapsulado. Objetivo: El presente trabajo se propuso a estudiar la prevalencia de estos tumores en dos servicios de diagnostico oral. Material y Método: fue realizado, a través de análisis de informes histopatológicos, un estudio retrospectivo de los casos de tumores neurales solitarios en la cavidad bucal diagnosticados en el laboratorio de Patología de la Universidad de Pernambuco, en el período de 1.992 a 2.007, y en el servicio de Patología de la Universidad Federal de Sergipe, en el periodo de 2.000 a 2.007. Resultados: Fueron encontrados 28 tumores neurales benignos, de un total de 4,485 informes analizados. De una manera general, el género femenino fue el más afectado y la lengua el sitio de mayor predilección. Hubo una discreta tendencia del surgimiento de las lesiones en la 1ª, 2ª e 3ª Décadas de vida. Conclusión: el conocimiento de estas lesiones, aunque raras en la cavidad bucal, se torna imprescindible para los profesionales del área odontológica, visto que las estrategias de diagnostico y tratamiento son dependientes de los datos epidemiológicos encontrados en la literatura especializada

Peripheral nerve sheath tumors rarely occur in the oral cavity and include neurofibroma, traumatic neuroma, schwannoma, granular cell tumor and palisaded encapsulated neuroma. Aim: The purpose of the present study was to determine the prevalence of these tumors in patients referred in two oral diagnostic services. Material and Method: Specimens diagnosed as oral peripheral nerve sheath tumors archived in the oral pathology services of Universidade de Pernambuco, from 1992 to 2007, and Universidade Federal de Sergipe, from 2000 to 2007, were evaluated. Results: Twentyeight peripheral nerve sheath tumors were diagnosed. Neurofibroma was the tumor more prevalent, including 40% of the cases. In general, females were more affected than males and the most frequent oral site was the tongue. Children and young people were more prevalent. Conclusion: The knowledge of these lesions, even though rare in oral cavity, it is essential for dentistry professionals, since that diagnosis and treatment strategies are dependents to epidemiological data founded in the literature

Canine intraneural perineurioma

Perineuriomas are slow growing tumors, exclusively compound of well-differentiated perineurial cells. They are rare in human and canine. A dog was submitted to necropsy with a clinical diagnosis of myelin sheath tumor in the brachial plexus area. Slides of the tumor were treated with histochemistry and immunohistochemistry techniches and the diagnostic of perineurioma intraneural was established.

Canine intraneural perineurioma

Perineuriomas are slow growing tumors, exclusively compound of well-differentiated perineurial cells. They are rare in human and canine. A dog was submitted to necropsy with a clinical diagnosis of myelin sheath tumor in the brachial plexus area. Slides of the tumor were treated with histochemistry and immunohistochemistry techniches and the diagnostic of perineurioma intraneural was established.(AU)