Malignant peripheral nerve sheath tumor: a clinicopathological analysis / 中华病理学杂志

Objective: To investigate the clinicopathological, immunophenotypic, and genetic features of malignant peripheral nerve sheath tumor (MPNST). Methods: Twenty-three cases of MPNST were diagnosed at the Jiangsu Province Hospital (the First Affiliated Hospital of Nanjing Medical University), China, between January 2012 and December 2022 and thus included in the study. EnVision immunostaining and next-generation sequencing (NGS) were used to examine their immunophenotypical characteristics and genomic aberrations, respectively. Results: There were 10 males and 13 females, with an age range of 11 to 79 years (median 36 years), including 14 cases of neurofibromatosis type I-associated MPNST and 9 cases of sporadic MPNST. The tumors were located in extremities (7 cases), trunk (4 cases), neck and shoulder (3 cases), chest cavity (3 cases), paraspinal area (2 cases), abdominal cavity (2 cases), retroperitoneum (1 case), and pelvic cavity (1 case). Morphologically, the tumors were composed of dense spindle cells arranged in fascicles. Periphery neurofibroma-like pattern was found in 73.9% (17/23) of the cases. Under low magnification, alternating hypercellular and hypocellular areas resembled marbled appearance. Under high power, the tumor cell nuclei were irregular, presenting with oval, conical, comma-like, bullet-like or wavy contour. In 7 cases, the tumor cells demonstrated marked cytological pleomorphism and rare giant tumor cells. The mitotic figures were commonly not less than 3/10 HPF, and geographic necrosis was often noted. Immunohistochemically, tumor cells were positive for S-100 (14/23, 60.9%) and SOX10 (11/23, 47.8%). The loss of the CD34-positive fibroblastic network encountered in neurofibromas was observed in 14/17 of the MPNST cases. The loss of H3K27me3 expression was observed in 82.6% (19/23) of the cases. Moreover, SDHA and SDHB losses were presented in one case. NGS revealed that NF1 gene loss of function (germline or somatic) were found in all 5 cases tested. Furthermore, four cases accompanied with somatic mutations of SUZ12 gene and half of them had somatic mutations of TP53 gene, while one case with germline mutation in SDHA gene and somatic mutations in FAT1, BRAF, and KRAS genes. Available clinical follow-up was obtained in 19 cases and ranged from 1 to 67 months. Four patients died of the disease, all of whom had the clinical history of neurofibromatosis type Ⅰ. Conclusions: MPNST is difficult to be differentiated from a variety of spindle cell tumors due to its wide spectrum of histological morphology and complex genetic changes. H3K27me3 is a useful diagnostic marker, while the loss of CD34 positive fibroblastic network can also be a diagnostic feature of MPNST. NF1 gene inactivation mutations and complete loss of PRC2 activity are the common molecular diagnostic features, but other less commonly recurred genomic aberrations might also contribute to the MPNST pathogenesis.

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.

Schwannoma pancreático como tumor sincrónico. Reporte de caso / Pancreatic schwannoma as a synchronous tumor. Case report

Los Schwannomas son tumores derivados de las células de Schwann de las vainas de los nervios periféricos. Se pueden localizar en cualquier región anatómica que contenga tejido nervioso periférico, siendo más frecuentes en la región craneofacial y las extremidades. Los Schwannomas pancreáticos son entidades sumamente infrecuentes de las cuales solo se han descrito 68 casos a nivel mundial. En el presente trabajo se presenta el caso de un paciente con hallazgo incidental de tres tumores sincrónicos dentro de los cuales se encuentra un Schwannoma pancreático.Caso clínico : Paciente femenino de 66 años de edad con antecedente de diabetes mellitus tipo 1 y enfermedad diverticular pancolónica quien acude presentando cuadro clínico compatible con absceso lumbar izquierdo. Se realiza TC de abdomen y pelvis con doble contraste que evidencia extensa área de colección heterogénea en región retroperitoneal que diseca hacia región lumbar y glútea izquierda, además de la presencia de tumor hipodenso de bordes lobulados en mesogastrio. Se realiza colonoscopia que reporta lesión exofítica ulcerada en unión rectosigmoidea. El resto de paraclínicos y estudios de extensión se encontraban dentro de límites normales. Se decide resolución quirúrgica mediante drenaje percutáneo de absceso y laparotomía exploradora. Informe histopatológico: cistoadenoma seroso microquístico de cuerpo de páncreas, Schwannoma de cola de páncreas y adenocarcinoma moderadamente diferenciado de colon sigmoides.Conclusión : Los Schwannomas pancreáticos son entidades sumamente infrecuentes que pueden presentarse con una amplia variedad de manifestaciones clínicas, sin embargo, deben tenerse en cuenta como posible diagnóstico diferencial ante el hallazgo de un tumor pancreático(AU)

Schwannomas, also called Neurilemmomas or Neurinomas, are tumors derived from Schwann cells of the peripheral nerve sheaths. They can be located in any anatomical region that contains peripheral nervous tissue, being more frequent in the craniofacial region and the extremities. Pancreatic Schwannomas are extremely rare entities of which only 68 cases have been described worldwide. In the present study we present the case of a patient with an incidental finding of three synchronous tumors, including a pancreatic Schwannoma.Clinical case : A 66-year-old female patient with a history of type 1 diabetes mellitus and pancolonic diverticular disease who presented with symptoms compatible with left lumbar abscess. A double-contrast CT of the abdomen and pelvis was performed, which revealed a large area of heterogeneous collection in the retroperitoneal region that dissected towards the left lumbar and gluteal region, in addition to the presence of a hypodense tumor with lobulated borders in the mesogastrium. A colonoscopy was performed, which reported an ulcerated exophytic lesion at the rectosigmoid junction. The rest of the paraclinical and extension studies were within normal limits. Surgical resolution is decided by percutaneous abscess drainage and exploratory laparotomy. Histopathological report: microcystic serous cystadenoma of the body of the pancreas, Schwannoma of the pancreas tail, and moderately differentiated adenocarcinoma of the sigmoid colon.Conclusion : Pancreatic Schwannomas are extremely rare entities that can present with a wide variety of clinical manifestations, however, they should be taken into account as a possible differential diagnosis when a pancreatic tumor is found(AU)

Schwanoma Maligno de Nervo Periférico Metastático para Pulmão e Glândula Adrenal: Relato de Caso / Metastatic Peripheral Nerve Malignant Schwannoma of Lungs and Adrenal Gland: Case Report / Schwannoma Maligno Metastásico de Nervio Periférico para Pulmones y Glándula Suprarrenal: Reporte de Caso

Introdução: O schwanoma é um tumor pouco frequente que se origina das células de Schwann que recobrem os prolongamentos nervosos. A malignidade desses tumores é ainda mais rara, correspondendo a 5-10% de todos os sarcomas. O prognóstico é reservado, mesmo após completa ressecção cirúrgica. Relato do caso: Paciente do sexo masculino, 79 anos, apresentou-se com lesão crostosa em perna esquerda com dois meses de evolução. A biópsia da lesão inicialmente revelou sarcoma pleomórfico, mas seu padrão imuno-histoquímico confirmou tumor maligno da bainha do nervo periférico. O tumor desenvolveu metástase linfonodal, pulmonar e adrenal dentro de poucos anos após o diagnóstico inicial. A ressecção do tumor adrenal não foi possível. O paciente desenvolveu síndrome paraneoplásica e teve piora do estado clínico, evoluindo a óbito. Conclusão: Tendo em vista a forma inespecífica do aparecimento do tumor e sua agressividade, é importante ressaltar o papel da ressecção cirúrgica ampla no seu tratamento. Além disso, fica evidente a necessidade de novos relatos desse tipo de neoplasia para melhor definição de uma conduta mais apropriada, principalmente em casos de recorrência ou disseminação metastática

Introduction: Schwannoma is a rare type of tumor which grows from Schwann cells, that protect nerve extensions. The malignancy of these tumors is even rarer, corresponding to 5-10% of all sarcomas. The prognosis is dismal, even after complete surgical resection. Case report: A 79-year-old male patient presented with a crusted lesion in his left leg with two months of evolution. Initially, the biopsy of the lesion revealed pleomorphic sarcoma, but its immunohistochemical pattern was peripheral nerve sheath malignant tumor. The tumor developed lymph node, lung, and adrenal metastasis within a few years after the first diagnosis. Adrenal tumor resection was not possible. The patient developed paraneoplastic syndrome and his clinical status worsened, progressing to death. Conclusion: In view of the nonspecific form of tumor appearance and its aggressiveness, it is important to highlight the role of wide surgical resection in its treatment. In addition, it is clear that new case reports of this type of neoplasia are necessary for better definition of more appropriate conducts, especially in recurrence or metastatic cases

Introducción: El schwannoma es un poco común, el cual se origina en las células de Schwann, que cubren las extensiones nerviosas. La malignidad de estos tumores es aún más rara, y representa 5-10% de todos los sarcomas. El pronóstico es reservado, incluso después de una resección quirúrgica completa. Relato del caso: Varón de 79 años que presenta una lesión costrosa en la pierna izquierda a los dos meses de evolución. La biopsia de la lesión reveló inicialmente un sarcoma pleomórfico, pero su patrón inmunohistoquímico era un tumor maligno de la vaina del nervio periférico. El tumor desarrolló metástasis en los ganglios linfáticos, pulmones y suprarrenales pocos años después del diagnóstico. La resección del tumor suprarrenal no fue posible. El paciente desarrolló síndrome paraneoplásico y empeoró el estado clínico, progresando hasta la muerte. Conclusión: Dada la forma inespecífica de aparición del tumor y su agresividad, es importante destacar el papel de la resección quirúrgica amplia en su tratamiento. Además, existe una clara necesidad de nuevos informes de este tipo de neoplasias para definir mejor un abordaje más adecuado, especialmente en casos de recurrencia o diseminación metastásica

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.

Superficial malignant peripheral nerve sheath tumor from recurrent neurofibroma in the abdominal wall of a patient without neurofibromatosis type 1 / 영남의대학술지

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Superficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cases have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.

Case report and immunohistochemical study of a malignant peripheral nerve sheath tumor in a dog / Relato de caso e estudo imuno-histoquímico de tumor maligno da bainha do nervo periférico em um cão

Malignant peripheral nerve sheath tumor is rare and rarely reported in dogs. The term neurofibroma/sarcoma is classically used when the tumor is composed of Schawann and perineural cells. This work describes the clinical, histopathological, and immunohistochemical case of a subcutaneous malignant peripheral nerve sheath tumor, most likely a malignant neurofibroma located in the pelvic member of a Rottweiler dog. Histopathological features and immunohistochemical analysis corroborated the diagnosis, showing positivity for S-100 protein, vimentin, and CD57, and was useful to distinguish this type of neoplasm from other malignancies of similar morphologies.(AU)

O tumor maligno da bainha do nervo periférico é raro e pouco descrito em cães. Classicamente, o termo "neurofibroma/sarcoma" é empregado quando o tumor é composto por células de Schwann e células perineurais. Neste relato são descritos os achados clínicos, histopatológicos e imuno-histoquímicos de um caso de tumor maligno da bainha do nervo periférico, provavelmente neurofibrossarcoma, localizado no subcutâneo do membro pélvico de um cão da raça Rottweiler. Os achados histopatológicos associados às observações imuno-histoquímicas contribuíram para o diagnóstico, sendo observada positividade para proteína S-100, vimentina e CD57, permitindo a diferenciação da neoplasia em questão de outros tumores malignos com características morfológicas similares.(AU)

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.

A Case of Malignant Peripheral Nerve Sheath Tumor in Parapharyngeal Space / 대한이비인후과학회지

The malignant peripheral nerve sheath tumor is an extremely rare soft tissue sarcoma. It is a highly malignant sarcoma, which is locally invasive, frequently leading to multiple recurrences and eventual metastatic spread. The peak incidence of disease is known to occur sporadically between the age of 20s and 50s, and is usually associated with the neurofibromatosis type I. In human body, the trunk and extremities are the most commonly involved sites, with only 8-14% of all lesions appearing in the head and neck region. We present a case of malignant peripheral nerve sheath tumor involving the right parapharynx in a 48-year-old patient who complained of headaches in the right parietal area and of dysphagia that aggravated over a month. After surgery, tumor was finally diagnosed as malignant peripheral nerve sheath tumor by histopathologic examinations. The authors report a case of malignant peripheral nerve sheath tumor in the right parapharynx with a review of the literature.

Malignant peripheral nerve sheath tumour of parapharyngeal space

Sarcomas account for only 1% of all head and neck primary cancers. Of all soft tissue sarcomas only 5% are neurogenic sarcomas [malignant peripheral nerve sheath tumour] and upto 20% of these lesions occur in the head and neck region.[1,2] About 50% of these tumours are associated with neurofibromatosis type I. Sporadic cases usually occur during the 4[th], 5[th] or 6[th] decades of life with equal sex predisposition[1]. Painless enlarging neck mass with or without neuropathy is the usual presenting feature [3]. Differentiating neurofibrosarcoma from other spindle cell sarcomas, e.g., malignant fibrous histiocytoma, fibrosarcoma or leiomyosarcoma can be very difficult without immunohistochemistry. Wide local excision is the treatment of choice [3, 4] but prognosis is poor for high grade tumours, tumours larger than 5 cm in diameter, if surgical margins are not free from tumour and in patients with neurofibromatosis[1, 4]

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.

A Case of Malignant Peripheral Sheath Tumor Arising from Neurofibromatosis Type 1

Malignant peripheral nerve sheath tumor (MPNST) is a term encompassing tumors previously diagnosed as malignant schwannoma, malignant neurilemmoma, neurogenic sarcoma, and neurofibrosarcoma The occurrence rate of MPNST in neurofibromatosis type 1 patients is known to be about 4.6%. Tumors occurring in this particular group have a worse prognosis in that they occur at an earlier age, are more centrally located, tend to be of a larger size and show more metastases and recurrences. We present a typical case of MPNST in a 36-year-old man with NF type 1, which occurred on the left buttock. A PET-CT showed findings of possible inguinal lymph node metastasis and a lymph node biopsy confirmed the diagnosis. The patient was treated with wide surgical resection and is undergoing adjuvant radiation therapy.

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

Malignant Peripheral Nerve Sheath Tumor of Scalp

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are rare neoplasms, usually arising from somatic soft tissues or peripheral nerves. Primary MPNST of the scalp is extremely rare. The case is being reported for its rarity. METHODS: A 53-year-old female was presented with a scalp mass on vertex area. The tumor was localized in scalp skin and did not invade underlying periosteum or skull and treated with complete surgical excision followed by adjuvant chemotherapy and radiotherapy. RESULTS: Histologically, the tumor showed malignant spindle cells with focal S-100 positivity on immunohistochemistry and a diagnosis of MPNST was made. CONCLUSION: Authors experienced a rare case of primary scalp MPNST and report the case.

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.