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.

Malignant peripheral nerve sheath tumor of the parapharyngeal space arising from cervical sympathetic chain: A rare entity

Malignant peripheral nerve sheath tumors (MPNSTs) of parapharyngeal space are rare and if present are most often in association with neurofibromatosis type 1 (NF-1). Only a few cases of MPNST have been reported in the literature without coexisting NF. We report one such case of an MPNST of parapharyngeal space tumor in a 35-year-old female with no associated features of NF-1. She presented with right-sided neck swelling and ptosis. Magnetic resonance imaging showed a 7 cm × 8 cm × 11 cm irregular swelling in the right parapharyngeal space with invasion of surrounding muscles. The mass was excised using a transcervical approach. Postoperative histopathological examination of the specimen revealed MPNST possibly arising from the cervical sympathetic chain

Transzygomatic, transcondylar excision of the sarcoma of infratemporal fossa

Malignant peripheral nerve sheath tumor (MPNST) is a rare pathologic lesion in a patient with solitary neurofibroma. A 32-year-old man presented with a firm and slightly tender mass in the right infratemporal region involving the right preauricular and temporomandibular joint area. The patient has a history of removal of a solitary neurofibroma 22 years back in the same region. The lesion had enlarged rapidly over the past 3 months, and a spindle cell lesion was diagnosed through a superficial incisional biopsy. Surgical removal of the lesion using modified preauricular transzygomatic approach was done. Histopathologically, it was diagnosed as an MPNST.

Targeted therapy for malignant peripheral nerve sheath tumor: translational research and clinical application / 中华肿瘤杂志

Malignant peripheral nerve sheath tumor (MPNST) is a rare invasive soft tissue sarcoma that originates from peripheral nerve branches and peripheral nerve sheaths. Early radical surgery is an effective treatment for MPNST. Since it is insensitive to radiotherapy and chemotherapy, the disease manifests a rapid progression, poor prognosis and high mortality. In recent years, the translational researches on the driving factors and therapeutic targets of MPNST have been rapidly developed, including the pathways of NF1-Ras, Raf-MEK-ERK, PI3K-AKT-mTOR, Wnt signaling, and abnormal expressions of apoptotic proteins, the general loss of polycomb repressive complex 2 (PRC2), upregulation of the HDAC family, abnormal expressions of receptor tyrosine kinases, expressions of programmed cell death ligand (PD-L1), aurora kinase and various microRNAs.This review summarizes the current translational researches on potential therapeutic targets of MPNST, and the clinical trials which provide helpful information for MPNST targeted therapy.

Immunohistochemical Markers for Schwannomas, Neurofibromas and Malignant Peripheral Nerve Sheath Tumors­What Can the Recent Literature Tell Us?

Introduction Schwannomas and neurofibromas are the two most common benign neoplasms of the peripheral nerve sheath, and although they are generally easy to distinguish, in some cases, they can closely resemble one another. Furthermore, malignant peripheral nerve sheath tumors (MPNSTs), another example of peripheral nerve sheath neoplasm, may likewise constitute, due to their morphology and lack of specific immunohistochemical markers, a challenging diagnostic. Objective To bring attention to new and promising biomarkers for schwannomas, neurofibromas and MPNSTs and to outline, based on the recent literature, a immunohistochemical profile for each neoplasm at hand, as well as to emphasize the need for further studies that could help us understand their diagnostic potential and disrupt our dependence of limited and nonspecific biomarkers. Methods An overview of the recent literature published in English on both the classical promising immunohistochemical markers of schwannomas, neurofibromasand MPNSTs was performed. We discarded case reports. Conclusions There is still a lack of specific biomarkers for peripheral nerve tumors. However, plenty of new immunohistochemical markers have been coming to light with presumed higher specificity and more diverse helpful uses than the classical ones. For example, Sox10 is a good biomarker for differentiating schwannomas and neurofibromas from sarcomas, calretinin schwannomas from neurofibromas, TLE1 and HMGA2 MPNSTs from sarcomas, and nestin, EGFR, p16 and Ki-67 MPNSTs from different types of schwannomas and neurofibromas. There is still need for further studies; however, the potential of some of these promising markers, among others, should not be disregarded.

Introdução Schwannomas e neurofibromas são as duas neoplasias benignas mais comuns a acometer o tecido nervoso periférico, e apesar de geralmente serem facilmente distinguíveis, em alguns casos, elas podem ser muito semelhantes. Além disso, os tumores malignos da bainha dos nervos periféricos (TMBNPs), outro exemplo de neoplasia da bainha do nervo periférico, podem da mesma forma constituir, pela sua morfologia e falta de marcadores imuno-histoquímicos específicos, um diagnóstico desafiador. Objetivo Chamar a atenção para novos e promissores biomarcadores para schwannomas, neurofibromas e TMBNPs e delinear, a partir da literatura atual, um perfil imuno-histoquímico para cada neoplasia em questão, além de enfatizar a necessidade de futuros estudos que possam elucidar-nos acerca de seu potencial diagnóstico e, por ventura, romper nossa dependência de biomarcadores inespecíficos e limitados. Método Foi feita uma revisão da literatura recente incluindo artigos em língua inglesa sobre os marcadores imunohistoquímicos clássicos e os promissores para schwannomas, neurofibromas e TMBNPs. Descartamos relatos de caso. Conclusão Ainda há uma falta de biomarcadores específicos para as neoplasias acima. Contudo, vários novos marcadores imuno-histoquímicos têm surgido, e com futuros estudos poderemos talvez definir biomarcadores específicos e indispensáveis para os casos desafiadores de neurofibromas, schwannomas e TMBNPs. Por exemplo, o Sox10 é um bom biomarcador para diferenciar schwannomas e neurofibromas de sarcomas; a calretinina é um bom marcador para diferenciar schwannomas de neurofibromas; os biomarcadores TLE1 e HMGA2 podem ajudar a diferenciar TMBNPs de sarcomas, e a nestina, o receptor do fator de crescimento epidérmico (EGFR), o gene p16 e a proteína Ki-67 podem diferenciar TMBNPs de diferentes tipos de schwannomas e neurofibromas. Ainda há necessidade de novos estudos; contudo, o potencial de alguns desses marcadores, dentre outros, não deveria ser negligenciado.

Utilidad de la 18F-FDG PET/TC en la valoración de tumores de la vaina nerviosa / The Value of 18F-FDG PET/TC in the Assessment of Peripheral Nerve Sheath Tumors

La 18F-FDG PET/TC tiene un papel importante en la evaluación de los tumores de la vaina nerviosa periférica, especialmente para determinar la posibilidad de malignidad y el sitio idóneo para la toma de biopsia. Se expone el caso de una mujer de 34 años de edad con diagnóstico de tumor de vaina nerviosa periférica, localizado en el mediastino posterior, que generó síndrome de vena cava superior y síndrome de Horner. Se realizó 18F-FDG PET/TC para hacer el diagnóstico diferencial entre benignidad y malignidad. Se encontró masa heterogénea con áreas hipermetabólicas que alcanzaban un SUVmax (valor de captación estándar máximo) de 8,5, hallazgos que sugerían origen maligno con diferentes grados de diferenciación. La biopsia de los lugares con mayor metabolismo arrojó el resultado de tumor maligno de vaina nerviosa periférica.

18F-FDG PET/CT is a useful imaging modality in the diagnosis and follow-up of peripheral nerve sheath tumors, especially in the assessment of tumor grade and biopsy guidance. The case of a 34-years-old woman diagnosed with peripheral nerve sheath tumor located in the posterior mediastinum that generated superior vena cava syndrome and Horner syndrome is presented. 18F-FDG PET/TC was performed to assess the possibility of malignancy. An 18F-FDG PET/CT was performed to determine whether it was benign or malignant, a heterogeneous mass with hypermetabolic areas with a maximum standardized uptake value (SUVmax) of 8.5 was found, and suggested malignancy with multiple grades of differentiation. A tumor biopsy from the region of higher metabolism was recommended with pathology result of malignant peripheral nerve sheath tumor.

Malignant Peripheral Nerve Sheath Tumor of Thigh Region – A Case Report

Malignant peripheral nerve sheath tumor (MPNST) is derived from Schwann cells or pluripotent cells of the neural crest. MPNSTs (Malignant Peripheral Nerve Sheath Tumor) commonly arise in adult patients ranging from 20 to 50 years of age. They originate from a major or minor peripheral nerve branch or its sheath. The common sites of origin include the extremities and trunk. We reported a case of MPNST in 35 years old female patient with rapidly growing mass in her left thigh. Histopathological examination and immunohistochemistry confirmed the diagnosis of MPNST. This case report of Malignant peripheral nerve sheath tumor (MPNST) is presented because of its rarity.

Malignant peripheral nerve sheath tumour with perineurial differentiation and hyaline eosinophilic globules (thanatosomes): A rare tumour

@#Malignant peripheral nerve sheath tumour (MPNST) with perineurial differentiation is a rare variant of MPNST. The pathological features and clinical significance of this variant remain to be characterised. We reported the clinicoradiological and pathological features of a case of recurrent right arm mass related to the ulnar nerve in a 42-year-old female patient. On pathological examination, the tumour showed dual features of conventional and perineurial MPNST which was proven by positive immunostaining for S-100 and EMA. The pathological diagnosis was MPNST with perineurial differentiation. In addition, a peculiar and rare finding of intracytoplasmic eosinophilic hyaline globules (thanatosomes) within tumour cells is reported. We document a rare tumour with hybrid features between conventional and perineurial MPNSTs. Further studies are needed to establish its biological behaviour.

A Case of Malignant Peripheral Nerve Sheath Tumor with Neurofibromatosis Type 1

The malignant peripheral nerve sheath tumor (MPNST) originates from neurofibromatosis type 1 (NF1). Because NF1 patients have many accompaniments with growth of additional masses, they usually overlook potential malignant changes in their masses. Our patient had two growing mass near the left elbow for several months; however, she ignored these masses until 7 days prior to writing this article, at which time they began bleeding. Traditionally, sarcoma including MPNST treatment consisted of amputation of the involved extremity. However, treatment now consists of surgical resection with adjuvant therapy. Therefore, we conducted resection of the mass and subsequent coverage with a local advancement flap. We believe that the most effective treatment for MPNST is early diagnosis and fast surgery, coupled with notification that there is always potential for malignant change in NF1 patient's masses.

TBX2 gene mutation and the clinical significance of related proteins expression in ma-lignant peripheral nerve sheath tumor / 中国肿瘤临床

Objective:To detect genomic aberrations and investigate the expression and clinical significance of TBX2,CHK2, and p53 in malignant peripheral nerve sheath tumor (MPNST) tissues. Methods:We collected 63 cases of MPNST tissue samples, which were re-moved by resection and were confirmed by pathology, from January 1991 to December 2011 in Department of Bone and Sofer Tissue Tumor, Tianjin Medical University Cancer Institute and Hospital. Twelve fresh tumor samples with qualified DNA quality were selected from the above 63 cases of tissue samples. Genome abnormalities of 12 MPNST tissues were detected by next-generation sequencing. The protein expression levels of TBX2, CHK2, and p53 in 63 MPNST tissue samples were assessed by immunohistochemistry staining. Results:One case of TBX2 gene mutation was observed out of the 12 MPNST tissue samples. In 63 MPNST tissue samples, the protein expression rates of TBX2, CHK2, and p53 were 60.3%(38/63), 47.6%(30/63), and 30.2%(19/63), respectively. TBX2 expression was sig-nificantly correlated with AJCC (American Joint Committee on Cancer, AJCC) stage, recurrence, and metastasis (P<0.05). TBX2 expres-sion was directly correlated with that of CHK2 (r=0.254, P=0.045), and CHK2 expression was directly correlated with that of p53 (r=0.343, P=0.006). In terms of the disease-free survival and overall survival time, patients with high expression levels of TBX2, CHK2, and p53 had significantly worse prognosis than patients with low expression levels of TBX2, CHK2, and p53(all P<0.05). TBX2, CHK2, and p53 were independent prognostic factors of MPNST. Conclusion:TBX2 and its associated proteins may play important roles in MPNST development and progression. Detecting TBX2 expression may provide the theoretical basis for estimating the prognosis of patients with MPNST.

Primary intracardiac malignant peripheral nerve sheath tumor: A rare case report.

Myxomas are the most common benign cardiac tumors constituting approximately 75% of all the cardiac tumors. Rest 25% are malignant and sarcomas being the commonest. Among the sarcomas primary cardiac malignant peripheral nerve sheath tumors are extremely rare. They usually arise in relation to the branches of vagus or phrenic nerves, 5‑42% being associated with neurofibromatosis type 1. Clinical signs and symptoms depend on the location and extent of involvement. Complete resection is the treatment of choice but local recurrence is common.

A clinicopathological and immunohistochemical study of malignant peripheral nerve sheath tumors.

Background: Malignant Peripheral Nerve Sheath Tumor (MPNST) is a rare aggressive sarcoma that develops within a peripheral nerve and forms a diagnostic challenge in view of its varied histomorphology. This short series highlights the clinicopathological spectrum of 11 cases of MPNST and the incidence of neurofibromatosis 1 (NF1) association. Methods: This retrospective and descriptive study on MPNST was done in the department of pathology, Kasturba medical college Mangalore (Manipal University), India over a period of three years from January 2008 to December 2010. Cases which were histopathologically diagnosed as MPNST were reviewed & immunostains was done where ever indicated to rule out the differentials. Results: A total of 11 cases of MPNST were documented with a wide age range of 17-85 years. Male:female ratio was 2.6:1. Extremities (63.64%) were found to be the most common site. Location wise most of the tumors were deep seated (63.64%) and maximum cases were high grade (54.55%). NF1 association was seen in 2 cases. Heterologous elements in the form of chondroid differentiation was seen in one case. Immunostain with S-100 was focally positive in all the cases. Conclusion: MPNST is a highly aggressive sarcoma with poor prognosis characterized by a challenge in its diagnosis as it has several mimics. Its diagnosis necessitates the incorporation of clinicopathological features and IHC with S-100 protein.

Tumor maligno de vaina de nervio periférico: reporte de caso / Malignant peripheral nerve sheath tumor: case report

Se presenta un caso de tumor sacro voluminoso con características de Tumor Maligno de Vaina de Nervio Periférico (MPNST) que tras una resección inicial y recidiva se reintervino y trató con radioterapia complementaria. Tras ocho años se ha observado una buena evolución.

A case of voluminous sacral tumor with Malignant Peripheral Nerve Sheath Tumor (MPNST) characteristics is reported, that after a first resection and later recurrence is reoperated and treated with complementary radiotherapy. After eight years a good evolution has been observed.

Malignant peripheral nerve sheath tumor of adrenal gland with heterologus osseous differentiation in a case of Von Recklinghausen's disease.

Malignant peripheral nerve sheath tumor (MPNST) of the adrenal gland is extremely rare. Most of them occur in association with neurofi bromatosis, ganglioneuroma or as part of a composite tumor such as pheochromocytoma. Only seven cases of MPNST of the adrenal gland have been reported in the literature till date. Discriminating this entity from other soft tissue sarcomas and gastrointestinal stromal tumor of the adrenal gland has important diagnostic and therapeutic implications. Moreover, the tumor size and pattern of expression for certain immunohistochemical markers may serve as independent predictors of aggressiveness. Herein we present a 24-years-old male with features of Von Recklinghausen’s disease who presented with large left adrenal gland malignant peripheral nerve sheath tumor.

Cutaneous Malignant Peripheral Nerve Sheath Tumor Not Associated with Neurofibromatosis / 대한피부과학회지

No abstract available.

Tumor maligno da bainha do nervo periférico: relato de caso / Malignant peripheral nerve sheath tumor: case report

JUSTIFICATIVA E OBJETIVOS: O tumor maligno da bainha do nervo periférico (TMBNP), anteriormente chamado de schwannoma maligno, é um tumor raro, representando até 10% dos sarcomas. Em aproximadamente 50% dos casos associam-se à neurofibromatose tipo 1 (NF1) ou doença de von Recklinghausen. São tumores agressivos e frequentemente resistentes à quimioterapia.O objetivo deste estudo foi a exposição de um caso de TMBNP enfatizando a importância da imuno-histoquímica para o diagnóstico. RELATO DO CASO: Paciente do sexo masculino, 54 anos, internado por dor abdominal, desconforto pós-prandial, lombociatalgia com irradiação ao membro inferior direito e lesões nodulares no fígado. A investigação revelou massa retroperitoneal com necrose e lesões líticas no sacro e coluna vertebral. As biópsias do sacro e hepática revelaram células mesenquimatosas, fusiformes, que coravam para S-100 na imuno-histoquímica. Admitido o diagnóstico de TMBNP com origem em massa retroperitoneal com metastatização óssea e hepática. O paciente foi referenciado à oncologia sendo tratado com quimioterapia paliativa. CONCLUSÃO: A raridade do TMBNP explica a importância da divulgação deste caso, informando os clínicos, diminuindo o tempo para o diagnóstico e melhorando substancialmente as probabilidades de cura e a sobrevida. Este caso é interessante também por não estar associado à NF1 e por não se ter determinado o nervo periférico de origem, assentando o diagnóstico no resultadodo estudo anatomo-histológico.

BACKGROUND AND OBJECTIVES: The malignant peripheral nerve sheath tumor (MPNST), previously designated malign schwannoma is a rare tumor, accounting up to 10% of the soft tissues sarcomas. In approximately 50% of the cases there is anassociation with neurofibromatosis -1 (NF1) or von Recklinghausen disease. This tumor is extremely aggressive and frequently resistant to chemotherapy. The purpose of this study is to describe a clinical case of MPNST emphasizing the importance of the immunohistochemistry to accomplish the diagnosis. CASE REPORT: A male patient, 54 years-old, admitted to the hospital with abdominal pain, postprandial epigastric discomfort, lumbosacral pain radiating to the right leg and nodular hepatic lesions. The clinical investigation revealed retroperitoneal mass with areas of necrosis and disperse lytic lesions on the sacrum and vertebral column. The hepatic and sacral biopsies revealed mesenchymal cells, spindled, which stained positively to S-100 in the immunohistochemistry. It was diagnosed MPNST,originated in the retroperitoneal mass metastasized to liver and bone. The patient was oriented to oncology being treated with palliative chemotherapy. CONCLUSION: The rarity of MPNST explains the importance of divulgating this case in order to inform the clinicians, diminishing the time to diagnosis, improving treatment and survival probabilities. This case report is also interesting because there was no association with NF1, and because it wasn't possible to identify the original peripheral nerve. The diagnosis was made due to the histological study performed.

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.

Expression of nestin and Ki-67 in malignant peripheral nerve sheath tumors and its significance / 肿瘤研究与临床

Objective To explore the expression of nestin and Ki-67 in malignant peripheral nerve sheath tumors (MPNST) and its significance in the differential diagnosis. Methods Immunohistochemical technique (SP) was used to detect the expression of nestin and Ki-67 in 42 cases of MPNST and 24 cases of benign peripheral nerve tumor.Results Total expression of nestin was found in 95.2 ％(40/42) of MPNST.Strong expression of nestin was detected more frequent in MPNST compared to benign peripheral nerve tumors [40.5 ％(17/42) versus 4.2 ％(1/24),x2 =8.403,P =0.004].Ki-67 labeling index in MPNST varied from 1％-70 ％.However,greater than 3 ％ labeling index of Ki-67 staining was observed in 64.3 ％(27 / 42) of MPNST while none of the 24 benign tumors had nuclear staining exceeding 3 ％. The higher Ki-67 labeling index showed significant differences between the two groups (x2 =23.518,P =0.000).Conclusion Nestin and Ki-67 are useful markers in distinguishing MPNST from benign tumors.

Malignant transformation in a hybrid schwannoma/perineurioma: Addition to the spectrum of a malignant peripheral nerve sheath tumor.

Benign nerve sheath tumors include schwannomas, neurofibromas and perineuriomas. The malignant counterpart of a nerve sheath tumor is designated as a malignant peripheral nerve sheath tumor (MPNST). Lately, benign nerve sheath tumors comprising more than one component have been described, including hybrid schwannomas/perineuriomas. However, malignant transformation in a hybrid schwannoma/perineurioma has not been documented so far. Herein, we present a rare case of a young adult male who presented with a soft tissue mass in his right thigh that was excised elsewhere and submitted to us for histopathological review. One of the tissue sections displayed histopathological features of a hybrid schwannoma/perineurioma, including alternate arrangement of benign schwann and perineurial cells, reinforced with S100-P and epithelial membrane antigen positivity, respectively, along with low MIB1 and negative p53 immunostaining. The other two tissue sections showed a spindly sarcomatous tumor that was immunohistochemically positive for S100-P, CD34, p53 and exhibited high MIB1 (30-40%). Diagnosis of a MPNST arising in a hybrid schwannoma/perineurioma was made. This unusual case forms yet another addition to the spectrum of a MPNST.

Giant malignant peripheral nerve sheath tumors of the occipital scalp.

Background: Malignant peripheral nerve sheath tumors (MPNST) are rare neoplasms, usually arising from peripheral nerves or showing a nerve sheath differentiation. Primary MPNSTs of the scalp is exceptionally rare, and only sporadic cases have been reported recently. Objectives: Report a rare case of giant malignant peripheral nerve sheath tumor (MPNST) beneath occipital scalp, and discuss how to treat with this kind of tumor. Methods: Descriptive study of a rare case of giant peripheral nerve sheath tumors of occipital scalp without adjuvant treatment with nine months follow up. Results: In a 52-year-old man with MPNSTs beneath occipital scalp, the tumor was treated with complete surgical resection. Histological examination proved that the lesion was a scalp MPNST. The patient was followed up asymptomatic for the following nine months after surgical resection without adjuvant radiotherapy. Conclusion: MPNSTs beneath the occipital scalp should be treated individually, for those well-circumscribed MPNSTs without bone destruction or brain invasion (low-grade tumors), complete surgical resection with clear margins (if possible) is recommended. Otherwise, adjuvant postoperative radiotherapy is necessary.