ABSTRACT
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.
Subject(s)
Humans , Nerve Sheath Neoplasms/pathology , Neurofibrosarcoma , Tongue/pathologyABSTRACT
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
ABSTRACT
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.
ABSTRACT
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.
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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.
Subject(s)
Humans , Nerve Sheath Neoplasms , Neoplasms, Nerve Tissue , Neurilemmoma , Neurofibroma , ImmunohistochemistryABSTRACT
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.
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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.
Subject(s)
Humans , Positron Emission Tomography Computed Tomography , Spinal Nerves , NeurofibromatosesABSTRACT
@#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.
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Abstract Introduction Schwannomas of the head and neck account for 25-40% of all cases, with presentation at the base of the tongue as the most frequent site for intraoral tumors. Objectives Here, a systematic review was conducted to include 15 cases of patients with schwannoma of the base of the tongue. Data Synthesis Most patients presented with a single, painless, well-encapsulated nodule at the base of the tongue. These nodules were slow-growing, with an average of 13.3 months from onset to presentation. Most cases were accompanied by airway obstruction, indicated by symptoms of dysphagia, dysarthria, snoring, and sleep apnea. Overall, the histological studies were consistent with a benign schwannoma with a palisading Antoni A and Antoni B pattern without malignant changes in cell morphology. These tumors were treated via complete surgical excision, and all cases achieved full remission by final follow-up. Conclusion Surgical removal is the primary mode of treatment with excellent postoperative prognosis and rare instances of recurrence. Given the rarity of this tumor, this review of available case studies serves to comprehensively describe clinical presentation and surgical treatment approaches to tongue base schwannoma.
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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.
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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.
Subject(s)
Humans , Amputation, Surgical , Diagnosis , Drug Therapy , Early Diagnosis , Elbow , Extremities , Hemorrhage , Neurilemmoma , Neurofibromatoses , Neurofibromatosis 1 , Peripheral Nerves , Sarcoma , WritingABSTRACT
Schwannomas are the most common type of benign peripheral nerve sheath tumors. They typically present as a solitary lesion, but multiple schwannomas rarely occur in patients with neurofibromatosis type 2 (NF2), or patients without the other hallmarks of NF2. The latter is termed schwannomatosis. They most commonly occur in the head and neck involving the brachial plexus and spinal nerves. Although rarely found in the extremities, when these masses occur peripherally, they most commonly affect the sciatic, ulnar, and tibial nerve. It is reported that 2.4% to 5% of all patients undergoing schwannoma excision present as schwannomatosis. One-third of patients with schwannomatosis show tumors limited to a single extremity or segment of the spine and it is referred to as segmental schwannomatosis. We report a case of recurred segmental schwannomatosis of the posterior tibial nerve without features of NF2 after schwannoma excision.
Subject(s)
Humans , Brachial Plexus , Extremities , Head , Neck , Nerve Sheath Neoplasms , Neurilemmoma , Neurofibromatoses , Neurofibromatosis 2 , Spinal Nerves , Spine , Tibial NerveABSTRACT
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.
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PURPOSE: To identify the differential MRI findings between myxoid tumors and benign peripheral nerve sheath tumors (BPNSTs) in the musculoskeletal system. MATERIALS AND METHODS: The study participants included a total of 35 consecutive patients who underwent MRI between September 2011 and December 2013. The patients were pathologically diagnosed with myxoid tumors (22 patients) or BPNSTs (13 patients). Evaluation was done by two radiologists, based on the following characteristics: size, margin, degree of signal intensity (SI) on T2-weighted images (T2WI), homogeneity of SI on T2WI, enhancement pattern, enhancement homogeneity, presence of cystic portion, internal fat component, presence of fat split sign, presence of target sign, presence of continuation with adjacent neurovascular bundle, and presence of surrounding halo. RESULTS: Large size, high SI on T2WI, heterogeneous enhancement, and internal fat component were commonly observed in myxoid tumors, while homogenous enhancement, fat split sign, target sign were common in BPNSTs. The differences were statistically significant (P 0.05). CONCLUSION: In the differential diagnosis of myxoid tumors and BPNSTs involving the musculoskeletal system, several MRI findings such as degree of SI on T2WI, enhancement homogeneity, internal fat component, fat split sign, and target sign, may be helpful in establishing the diagnosis.
Subject(s)
Humans , Diagnosis , Diagnosis, Differential , Magnetic Resonance Imaging , Musculoskeletal System , Nerve Sheath Neoplasms , Peripheral NervesABSTRACT
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.
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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.
Subject(s)
Humans , Female , Middle Aged , Nerve Sheath Neoplasms/surgery , Nerve Sheath Neoplasms/diagnosis , Nerve Sheath Neoplasms/radiotherapy , Sacrum/pathology , Magnetic Resonance Spectroscopy , SarcomaABSTRACT
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.
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Perineurioma is a rare benign peripheral nerve sheath tumor, composed uniformly of perineurial cells. Soft tissue perineurioma primarily arises within the subcutaneous tissue of extremities and trunk as a painless solitary nodule, and should be distinguished from dermatofibroma, neurofibroma, dermatofibrosarcoma protuberans, meningioma and so on. A 25 year-old female is presented with three small asymptomatic papules on the third left finger which were found 3 years ago. Punch biopsy was performed on all of the papules. Microscopic examination demonstrated well-demarcated tumor within dermis, and proliferation of spindle cells with wavy nuclei and elongated bipolar cytoplasmic process, arranged in a whorled pattern. According to immunohistochemical analysis, the tumor cell showed positivity for epithelial membrane antigen, but negativity for S-100 protein, factor XIIIa, CD34, and smooth muscle actin. The diagnosis of soft tissue perineurioma was being made. We report this rare case of perineurioma presented as multiple papules localized within dermis of the digit.