Malignant peripheral nerve sheath tumor of tongue: a case report / 华西口腔医学杂志

Malignant peripheral nerve sheath tumor (MPNST) is a rare neurogenic malignant tumor. MPNST has aty-pical clinical symptoms and imaging presentations, difficult diagnosis, a high degree of malignancy, and poor prognosis. It usually occurs in the trunk, approximately 20% in the head and neck, and rarely in the mouth. This paper reports a case of MPNST of the tongue. A summary of the clinical features, diagnosis, and treatment of MPNST is presented in combination with a literature review to provide a reference for the diagnosis and treatment of this disease.

Tumor benigno de la vaina neural en rodilla. Reporte de caso y revisión bibliográfica / Knee neural sheath benign tumor. Case report and bibliographic revision

El schwannoma es el tumor benigno de nervio periférico más frecuente. Su presencia en los nervios de miembros inferiores es excepcional, donde representan el 1% de todos los schwannomas. Presentamos el caso de una mujer de treinta y un años que consulta por dolor en la cara anterior de la rodilla derecha, donde se palpa una masa blanda, dolorosa, de 1 cm aproximadamente y dolor en interlínea externa con signo de McMurray positivo. La RM evidenció una estructura ovoidea de señal quística, superficial al retináculo medial en su tercio proximal, de 10 × 8 × 8 mm y lesión del menisco externo en su tercio medio. Se realizó tratamiento artroscópico de la lesión meniscal externa y por vía abierta la exéresis marginal quirúrgica del tumor de partes blandas, con diagnóstico histopatológico de schwannoma. Los schwannomas de nervio periférico, aunque sean una entidad poco frecuente, deben considerarse en el diagnóstico diferencial de las masas dolorosas de la rodilla. Su tratamiento es la exéresis quirúrgica

Schwannoma is the most common benign peripheral nerve tumor, its presence being exceptional in the nerves of the lower limbs, where it represents 1% of all schwannomas. We present the case of a thirty-one-year-old woman who consulted for anterior knee pain, where a soft, painful mass of approximately 1cm and pain on the lateral joint line was assessed. McMurray's sign was positive. MRI showed an ovoid structure with a cystic signal, superficial and proximal to the medial retinaculum, measuring 10 × 8 × 8 mm and a tear in the body and posterior horn of the lateral meniscus. Arthroscopic treatment for the lateral meniscus tear and open surgical marginal excision of the soft tissue tumor were performed, with pathological diagnosis of schwannoma. Peripheral nerve schwannomas, although a rare entity, should be considered in the differential diagnosis of painful knee masses, their treatment being surgical excision

Histopathology and immunohistochemistry of peripheral neural sheath tumor and perivascular wall tumor in dog / Histopatologia e imuno-histoquímica de tumor de bainha de nervo periférico e de tumor de parede perivascular em cães

Soft tissue sarcomas (STS) comprise a heterogeneous group of malignancies derived from extra-skeletal mesenchymal tissues that may show similar histopathological changes. Histopathologic patterns suggestive of perivascular wall tumors (PWT) and peripheral nerve sheath tumors (PNST) have been described. This study investigated the histogenesis in a series of 71 cases of canine STS that showed morphological compatibility with what is described for PWT and PNST. Immunohistochemistry analysis were done to CD56, S100, SMA, Desmin, Von Willebrand Factor, NSE and GFAP. Twenty-one cases (29.6%) showed histopathologic features compatible with PWT, 23 cases (32.4%) with PNST and 27 cases (38.0%) shared both histopathological features. By immunohistochemistry, 59 (83.1%) cases showed positivity only for neural markers and 12 (16.9%) had simultaneous positivity for both neural and muscle markers. PNST was the most prevalent neoplasm and none of the cases were positive for muscle markers only. The histopathologic features were not useful to define the diagnosis of PWT, since most tumors were negative for muscle markers but positive for neural markers. Due to this immunoreactivity and the morphologic features, future studies may propose guidelines for the classification of these neoplasms.(AU)

Sarcoma de tecidos moles (STM) compreende um grupo heterogêneo de neoplasias malignas, derivadas de tecidos extraesqueléticos, que podem apresentar alterações histopatológicas similares. Os padrões histopatológicos sugestivos de tumor de parede perivascular (TPP) e de tumor de bainha de nervo periférico (TBNP) têm sido descritos. Este estudo investigou a histogênese de uma série de 71 STM caninos, que apresentavam compatibilidade morfológica com o que é descrito para TPP e TBNP. A análise imuno-histoquímica foi feita para CD56, S100, SMA, Desmina, Fator Von Willebrand, NSE e GFAP. Vinte e um casos (29,6%) apresentaram características histopatológicas compatíveis com TPP, 23 casos (32,4%) com TBNP e 27 casos (38,0%) apresentaram características histopatológicas de ambos. Na imuno-histoquímica, 59 (83,1%) casos apresentaram positividade somente para marcadores neurais e 12 (16,9%) tiveram positividade simultânea tanto para marcadores neurais como para marcadores musculares. TBNP foi a neoplasia mais prevalente e nenhum dos casos foi positivo para somente para marcadores musculares. As características histopatológicas não foram úteis para definir o diagnóstico de TPP, uma vez que a maioria foi negativa para marcadores musculares, mas positiva para marcadores neurais. Devido a essa imunorreatividade e às características morfológicas, pesquisas futuras poderão propor orientações para a classificação dessas neoplasias.(AU)

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.

Tumor gigante de vaina neural / Giant tumor from the nerve sheath

Resumen: El schwannoma es un tumor benigno derivado de la vaina neural de las células de Schwann. Habitualmente suele ser pequeño y solitario, siendo más frecuente en los pares craneales y en la médula espinal, aunque menos frecuente en las extremidades. Se han descrito casos de aparición en las extremidades (principalmente superiores). Son muy raros los casos de schwannomas de gran tamaño sin relación con la neurofibromatosis. Presentamos a una paciente de 25 años de edad, con un schwannoma gigante que invadía desde la región isquiática al tríceps sural.

Abstract: A schwannoma is a benign nerve sheath tumor derived from Schwann cells. They are usually small and solitary tumors more frequently localized in cranial nerves and the spinal cord and rarely in the limbs. Some cases have been reported involving extremities (mainly the upper ones) but with a small size. Cases of big size schwannomas unrelated to a neurofibromatosis are very rare. We report the case of a 25 year old patient, with a giant schwannoma which invaded the ischiatic region reaching the triceps surae.

Cellular neurothekeoma: case report and its (un) relation with nerve sheath myxoma

Neurothekeoma is an uncommon, benign neoplasm presenting in young adults, primarily on the head and neck. It was initially related to nerve sheath myxoma but with the advent of immunohistochemistry, new insights into its cellular differentiation and origin have emerged, unlinking Neurothekeoma and nerve sheath myxoma. Herein we describe a 19-year-old male who had had a frontal, fl esh-colored, asymptomatic papule for 2 years. Histology showed a dermal fusocellular-spindle cell tumor, including an eosinophilic cytoplasm with mild cellular pleomorphism and moderately dense fi brous stroma. IHQ was positive for CD10 and negative for S100 and Claudin-1. These fi ndings were compatible with cellular Neurothekeoma. The lesion was completely extirpated and at the 6-month follow-up, the patient was asymptomatic and had experienced no recurrences.

Frequency of central nervous system tumors in delta region, Egypt.

Introduction and Aim of Work: Central nervous system (CNS) tumors represent a major public health problem, and their epidemiological data in Egypt have been rather incomplete except for some regional reports. There are no available frequency-based data on CNS tumors in our locality. The objective of this study was to estimate the frequency of CNS tumors in east delta region, Egypt. Materials and Methods: The data were collected during the 8-year period from January 1999 to December 2007 from Pathology Department, Mansoura University, and other referred pathology labs. Examination of HandE stained sections from retrieved paraffin blocks were done in all cases for histopathologic categorization of C.N.S. tumors. Immunohistochemical studies were applied to confirm final histopathologic diagnosis in problematic cases. Results: Intracranial tumors represented 86.7% of cases in comparison to only 13.3% for spinal tumors. Gliomas were the CNS tumors of the highest frequency (35.2%), followed by meningioma (25.6%), pituitary adenoma (11.6%) and nerve sheath tumors (6.6%). 10.25% of tumors were of children <15 years. Conclusion: This study provides the largest series of the relative frequency of CNS tumors in Delta region in Egypt till now and may help to give insight into the epidemiology of CNS tumors in our locality.

Tumor maligno de la vaina del nervio periférico del mediastino en un paciente con neurofibromatosis tipo 1 / Mediastinal malignant peripheral nerve sheath tumor in a neurofibromatosis type 1 patient

El tumor maligno de la vaina del nervio periférico (TMVNP), es una neoplasia maligna originada en las células de Schwan de la vaina de revestimiento del nervio periférico. Describir el caso de un hombre con neurofibromatosis tipo 1 (NF1), quién presentó un TMVNP de bajo grado, y realizar una discusión sobre esta enfermedad. Hombre de 28 años, con antecedente de NF1 diagnosticada a los 15 años de edad, con dolor pleurítico izquierdo, disnea y pérdida de peso de 10 meses de evolución. Al examen de tórax, se observó marcada hipercifosis dorsal con disminución del murmullo pulmonar. La radiografía de tórax y tomografía axial computarizada (TAC), evidenciaron gran masa radioopaca bien delimitada en mediastino posterior. Por lo anterior, se realizo biopsia por punción con aguja gruesa guiada por TAC, en la cual se identificó una neoplasia maligna mesenquimal. Se decidió realizar resección del tumor a través de toracotomía posterolateral, en la que se obtuvo gran masa de 8x9x9 cm, de superficie externa irregular, pardo-violácea y consistencia firme. El estudio histopatologico e inmunofenotípico concluyo el diagnóstico de TMVNP en mediastino posterior Grado 1. Posterior a la cirugía, el paciente se encuentra asintomático. Se presentó un caso de TMVNP originado en un paciente con NF1, presentación que generalmente cursa con peor pronóstico, además se realizo una breve revisión de los aspectos más relevantes de esta enfermedad, algunos de los cuales han tenido un avance vertiginoso en años recientes.

The malignant peripheral nerve sheath tumor (MPNST) is a malignant neoplasm originated in the Schwan cells of the periferic nerves sheath. We describe a case of a man with Neurofibroatosis Type 1 (NF1), who developed a low grade MPNST, and subsequent to a discussion of this disease. 28-year-old Man with pleuritic pain in the left hemithorax, dyspnea and weight loss, with a previous diagnosis of NF1, from the age of 15 and a family history of NF1. At chest examination the patient had an intense thoracic kyphosis, with a decline in the ventilation of the inferior two thirds of the left hemithorax, where a dull sound to percusión was also found. The chest X rays showed a large radiopaque and well delimited mass in the posterior mediastinum, that pushed the cardiovascular structures to the anterior region, which was also documented by chest computed tomography (CT). In view of the above, a puncture biopsy was performed with thick needle guided by CT, from where a malignant mesenhymal neoplasm was identified. It was decided to perform the resection of the tumor of the left posterior mediastinum, by left posterior lateral thoracotomy, in which a large mass of 8x9x9 cm was obtanied, with irregular external surface, brown-violet, and firm. The histopathological and inmunophenotypic study concluded the diagnosis of MPNST in the posterior mediastinum grade 1. Following surgery the patient was asymptomatic. We present a case of MPNST which originated in a patient with NF1, who would usually have a worse prognosis. A brief review of the more relevant aspects of this disease was also reported, some of which have shown important progress in recent years.

A 10 year unsuspected lumbar schwannoma: a case report / Un schwannoma lumbar insospechado por 10 años: reporte de un caso

One case of unsuspected schwannoma is reported in a 69-year old man with chronic lumbosacral pain. The tumour had been mistaken for a lumbar lipoma for a decade. The definitive diagnosis was established after surgery based on the characteristic histopathological findings. The purpose of this report is to alert primary care physicians to peripheral sheath nerve tumours, in addition to highlight the role of pain and image features in the suspicion of tumours with longterm evolution.

Se relata un caso de schwannoma insospechado en un hombre con dolor lumbosacral crónico. El tumour había estado equivocado por el lipoma lumbar durante una década. El diagnóstico definitivo puede establecerse después de la cirugía, con base en los resultados histopatológicos característicos. El propósito de este informe es dar énfasis al conocimiento de médicos del cuidado primario sobre los tumoures de la vaina de nervios periféricos, y resaltar el papel del dolor e de las imágenes en la sospecha de estos tumoures que evolucionan con equívocos diagnósticos a largo plazo.

A case of a sporadic malignant peripheral nerve sheath tumor of the urinary bladder with concomitant in situ urothelial carcinoma treated by transuretheral resection.

Malignant peripheral nerve sheath tumor (MPNST) of the urinary bladder is a very rare clinical entity. The association of such a tumor with urothelial carcinoma is even more unusual. Differential diagnosis between coexisting two distinct primary tumors and carcinosarcoma of the urinary bladder is very important as both the treatment and prognosis vary widely. Herein, we report a case of an MPNST with a concomitant in situ urothelial carcinoma in a 53-year-old man. To our knowledge, this is the first documented case of MPNST of the bladder that is treated by transuretheral resection which is in contrast with the previous reports that used cystectomy.

Ileal perineurioma as a cause of intussusception / Perineurioma ileal como uma causa de intussuscepção

CONTEXT: Perineuriomas are rare tumors composed of cells resembling those of the normal perineurium. It usually occurs in subcutaneous, soft-tissue or intraneural locations. Very few reports in the literature have described perineuriomas in the gastrointestinal tract, including the stomach, colon and jejunum. CASE REPORT: We report the clinicopathological and immunohistochemical features of a case of ileal perineurioma that was manifested clinically as intestinal obstruction due to intussusception. Ileal perineurioma has not previously been reported at this anatomical location.

CONTEXTO: Perineurioma é uma rara neoplasia composta de células que lembram aquelas do perineuro normal e geralmente ocorre no subcutâneo, tecidos moles ou em localização intraneural. Poucos relatos na literatura descrevem perineuriomas no trato gastrointestinal incluindo estômago, cólon e jejuno. RELATO DE CASO: Os autores apresentam as características clinicopatológicas e imunoistoquímicas de um caso de perineurioma ileal apresentando-se clinicamente por obstrução intestinal decorrente de intussuscepção. Perineurioma ileal não havia sido descrito até o momento nessa localização anatômica.

Malignant peripheral nerve sheath tumour of maxilla

Malignant peripheral nerve sheath tumour [MPNST] is a very rare entity in head and neck with high rate of recurrences and local invasiveness. This tumour is usually found in lower extremities and only 10-12% occur in head and neck region. The diagnosis is considered as the most elusive and difficult among soft tissue sarcomas because of its non specific presentation, both clinically as well as pathologically. This difficulty has now been overcome by immunohistochemistry. We report here a case of MPNST in a 50 years old male with a localized right maxillary growth

Perineuroma de tejidos blandos en pared abdominal: hallazgos anatomopatológicos y revisión de la literatura / Abdominal wall soft tissue perineurioma: autopsy findings and review of the literature

El perineuroma es un tumor benigno raro que deriva de las células perineurales de la vaina del nervio. Fue descrito por primera vez en 1978 por Lazarus y Trombetta, quienes basaron su diagnóstico en las características ultraestructurales de las células de esta neoplasia. Posteriormente el perfil inmunohistoquímico de las células perineurales permitió la identificación de esta entidad con mayor facilidad. Se describe una mujer de 47 años de edad con tumor en pared abdominal, referida al Hospital de Oncología por diagnóstico de histiocitoma fibroso maligno plexiforme. Se revisó el caso y solicitó inmunohistoquímica. La conclusión fue diagnóstico de perineuroma de tejidos blandos.

The perineuroma is a rare benign tumor, derived from nerve sheath perineurial cells. It was first described in 1978 by Lazarus and Trombetta, who based their diagnosis on the ultrastructural features of perineurioma cells. Subsequently, the immunohistochemical profile of perineurial cells allowed an easier diagnosis of this condition. A case of perineurioma in a 47-year-old woman is reported. The patient presented with an abdominal wall mass, with aprevious diagnosis of malignant fibrous histiocytoma (MFH). The case was reviewed at an oncology hospital, inmunohistochemistry was performed and the concluding diagnosis was soft tissue perineurioma.

Malignant intracerebral nerve sheath tumour [MINST] simulating malignant glioma

Though schwannomas constitute 8% of all intracranial tumours[5], less than 20 cases of intracerebral schwannomas have been reported so far in world literature.[7] All the rest of schwannomas arise from the cranial nerves. Its malignant counterpart, malignant intracerebral nerve sheath tumour [MJNST] is even rarer. Only six cases of MINST have been reported to date [1] We report a MINST managed by the authors and review the relevant literature. Forty-year-old male patient presented with features of raised intracranial pressure. Cranial magnetic resonance imaging [MRI] revealed a well-defined enhancing parenchymal tumour of right insular region. It was unique in having a hyperintense peripheral rim on T2-weighted images akin to the cerebrospinal fluid cleft. At surgery, the tumour was firm and discrete and it could be shelled out from the surrounding parenchyma. Histopathology revealed a lobular tumour, uniform distribution of vascular spaces lined by plump endothelial cells with rhabdomyoblastic differentiation and cellular component with mitotic figures. Most of tumour cells were positive for vimentin with variable and patchy positively of S-100. Malignant intracerebral nerve sheath tumour is an extremely rare tumor [1] Schwannomas are not known to undergo malignant degeneration and hence, it is preferable to label it MINST [10] However, it can mimick a malignant glioma on radiology, its discrete nature both on the MRI and at surgery remains unique. Lobular nature and rhabdomyoblastic differentiation has been described for the first time. Complete excision followed by irradiation and chemotherapy seems to be most appropriate treatment but the prognosis is still poor [6]

[Mandibular malignant triton tumor: a case report]

Malignant peripheral nerve sheath tumors [MPNSTs] are very rare. Malignant triton tumor is an aggressive variety of MPNSTs with rhabdomyoblastic differentiation. In this study we reported the clinical, radiographic, histopathologic and immunohistochemical features of an intramandibular malignant triton tumor. The patient was a 31 year-old male who was referred to maxillofacial surgery ward of Mashhad dental school with a painful swelling in the anterior part of mandible and facial asymmetry. After histopathological evaluation, surgery was performed and immunohistochemical staining confirmed the diagnosis of Triton tumor. Patient was referred for further necessary treatments. In cases of mandibular tumors with initial histopathologic findings of sarcoma, uncommon differential diagnosis such as peripheral nerve sheath tumors must be considered as well

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.

Intraosseous malignant peripheral nerve sheath tumor with focal epithelioid differentiation of the thoracic spine.

The authors describe an extremely rare case with malignant peripheral nerve sheath tumor (MPNST) with focal epithelioid differentiation presenting as an intraosseous lesion of the spine. A 75-year-old woman presented with progressive paraplegia caused by epidural mass arising from the posterior element of the T7 vertebra. At surgery, the lesion was noted to originate from the T7 vertebra and separate from the dura and spinal nerve roots. The patient died of tumor metastases to the lungs six months after the initial presentation. Histological diagnosis was MPNST. However, the tumor also contained cystic structures lined by epithelioid cells, requiring differentiation from synovial sarcoma. From the histological and immunohistochemical features, as well as the absence of SYT-SSX fusion gene expression, the diagnosis of MPNST with focal epithelioid differentiation was made. This is the first case report of intraosseous MPNST of the spine with a peculiar biphasic appearance.