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)

Retroperitoeal malignant peripheral nerve sheath tumors: a clinicopathologic study of 13 cases / 临床与实验病理学杂志

Purpose To investigate the clinicopathology and the expression of H3K27me3 in retroperitoeal malignant pe-ripheral nerve sheath tumors (MPNST). Methods The clini-copathology and prognosis of 13 cases MPNST were analyzed. Immunohistochemical analysis was used to detect H3K27me3 in MPNST, synovial sarcoma, dedifferentiated liposarcoma and leiomyosarcoma. Results 13 cases of MPNST were high-grade. The mean diameter of tumors was 20 cm. 2-year survival rate of MPNST was about 60% . 5-year survival rate of MPNST was a-bout 30% . Compared to NF-1 associated and sporadic MPNST (P＜0. 05), the RT-induced MPNST had a poor prognosis. Re-currence and distant metastasis patient had a poor prognosis( P＜0. 05). Age had no significant effect on patient survival. In addition, immunohistochemical staining showed that the expres-sion of H3k27me3 was absent in 11 of 13 cases of MPNST. And compared with the expression of H3K27me3 in synovial sarco-ma, dedifferentiated liposarcoma and leiomyosarcoma, it had statistical significance of that expression in MPNST (P＜0. 05). Conclusion Retroperitoeal MPNST is common at high-grade. Tumor volume is relatively large and prognosis is poor. RT-in-duced, recurrence and distant metastasis play an important role in survival rate of MPNST. H3K27me3 which is more common absence in high-grade could be an effective marker of MPNST.

Clinicopathological features and prognosis of malignant peripheral nerve sheath tumor: a retrospective study of 140 cases / 中华肿瘤杂志

Objective@#To investigate the clinicopathological features and prognosis of malignant peripheral nerve sheath tumors (MPNST).@*Methods@#We retrospectively reviewed the clinical data of MPNST patients who were treated at Cancer Institute & Hospital, Chinese Academy of Medical Science from January 1999 to January 2016. A total of 140 patients with 66 male and 74 female with MPNST were enrolled in the study. The median age was 40 at the time of diagnosis. Survival analysis were estimated by Kaplan-Meier method and Log rank test. Multivariate analysis were estimated by Cox proportional hazards regression model.@*Results@#The median follow-up time was 43.0 months. The 3- and 5-year overall survival (OS) rates were 56.4% and 48.6%, respectively. The 3-year local recurrence (LR) rate and distant metastasis (DM) rates were 42.9% and 49.3%, respectively. Univariate analysis showed that the tumor location, AJCC stage, S-100, radiotherapy and margin status affected 5-year OS rate (all P<0.05). The tumor location, AJCC stage, S-100, Ki-67 staining, margin status, radiotherapy and chemotherapy affected 3-year LR rate (all P<0.05). The tumor location, AJCC stage, S-100, Ki-67 staining and margin status affected 3-year DM rate (all P<0.05). Multivariate analysis showed that the tumor location, AJCC stage, S-100 were independent factors for 5-year OS rate (all P<0.05). The tumor location, Ki-67 staining and chemotherapy were independent factors for LR (all P<0.05) while the AJCC stage, margin status and Ki-67 staining were independent factors for DM (all P<0.05).@*Conclusions@#MPSNT is an aggressive tumor with poor prognosis. Multiple factors were identified in this study. Patients with the tumor located at head and neck, advanced AJCC stage and negative S-100 usually have a low 5-year overall survival rate. Patients with the tumor located at head and neck, Ki-67 staining ≥ 20% and without chemotherapy had a higher tendency of local recurrence. Poor prognosis factors for DM were advanced AJCC stage, positive margin and Ki-67 staining ≥ 20%.

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.

Intraosseous primary malignant peripheral nerve sheath tumor of the calcaneus: An unusual case and review of literature.

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that originate from a peripheral nerve or neurofi broma either spontaneously or in association with neurofi bromatosis type 1. MPNSTs account for approximately 5% of all soft tissue malignancies. The tumor is commonly seen in the extremities and trunk. Most of these tumors are high-grade with the potential to recur and metastasize. Common metastatic sites include the lungs, bone, and pleura. Primary intraosseous MPNST is rare, and the diagnosis of intraosseous MPNST, especially in an unusual location is diffi cult because of its cellular origin, histomorphological similarities with other sarcomas, and bone is the most common site for metastasis. We report an unusual case of MPNST of the calcaneus in a young male.

Malignant Peripheral Nerve Sheath Tumor in Frontal Sinus, Orbital Cavity and Ethmoid Cavity

Malignant peripheral nerve sheath tumors are extremely rare soft tissue sarcomas. Among various locations, the trunk and extremities are the most commonly involved sites, with only 15% of such lesions occuring in head and neck region. Here, we report a case of a 74-year-old male who presented with forehead swelling and right eye deviation. Computed tomography images revealed a tumor involving the frontal sinus, ethmoid sinus, and the orbital cavity. The patient underwent a surgical excision of the lesion, which histopathological examination revealed to be a malignant peripheral nerve sheath tumor.

Malignant Peripheral Nerve Sheath Tumor of Non-Neurofibromatosis Type I Metastasized to the Cerebrospinal Axis

A malignant peripheral nerve sheath tumor (MPNST) is a type of sarcoma that arises from peripheral nerves or cells of the associated nerve sheath. This tumor most commonly metastasizes to the lung and metastases to the spinal cord and brain are very rare. We describe a case of young patient with spinal cord and brain metastases resulting from MPNST. An 18-year-old man presented with a 6-month history of low back pain and radiating pain to his anterior thigh. Magnetic resonance imaging showed a paraspinal mass that extended from the central space of L2 to right psoas muscle through the right L2-3 foraminal space. The patient underwent surgery and the result of the histopathologic study was diagnostic for MPNST. Six months after surgery, follow-up images revealed multiple spinal cord and brain metastases. The patient was managed with chemotherapy, but died several months later. Despite complete surgical excision, the MPNST progressed rapidly and aggressively. Thus, patients with MPNST should be followed carefully to identify local recurrence or metastasis as early as possible.

A Case of Intrathoracic Malignant Peripheral Nerve Sheath Tumor in Neurofibromatosis Type I / 대한소아신경학회지

Malignant peripheral nerve sheath tumor (MPNST) is a rare neoplasm and the main cause of the mortality in neurofibromatosis type 1 (NF 1). MPNSTs have been found mostly in the head and neck and the upper or lower extremities with intrathoracic MPNSTs being uncommon. PET has been a useful diagnostic modality of MPNSTs in NF 1. We present a 17-year-old girl patient with NF 1. She was admitted with chronic cough and shortness of breath caused by a huge mediastinal mass. An 18FDG-PET study revealed intense uptake at the mediastinal mass. She underwent surgery to lessen respiratory symptoms, and the mass was histologically diagnosed as an intrathoracic MPNST.

Malignant Peripheral Nerve Sheath Tumor of the Retroperitoneum in Patient with Neurofibromatosis / 대한비뇨기과학회지

A malignant peripheral nerve sheath tumor (MPNST), also known as a malignant neurilemmoma or malignant schwannoma, is significantly associated with neurofibromatosis type 1 (NF 1). NF 1 is characterized by multiple dermal neurofibromas, cafe-au-lait spots, MPNST and other abnormalities. MPNST is often metastatic, and is detected in the extremities, frequently in the head and neck, but rarely in the retroperitoneal and pelvic spaces. We experienced a case of MPNST in the retroperitoneal space of a 38-year-old male with NF 1, who also had metastatic lesions of the lung and liver.