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1.
Zhonghua Zhong Liu Za Zhi ; 41(9): 648-653, 2019 Sep 23.
Artigo em Chinês | MEDLINE | ID: mdl-31550853

RESUMO

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.


Assuntos
Terapia de Alvo Molecular/métodos , Neoplasias da Bainha Neural/terapia , Neurofibrossarcoma/terapia , Humanos , Neoplasias da Bainha Neural/patologia , Neurofibrossarcoma/patologia , Fosfatidilinositol 3-Quinases , Transdução de Sinais , Pesquisa Médica Translacional
2.
Clin Nucl Med ; 44(11): 895-897, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31274561

RESUMO

Melanotic malignant peripheral nerve sheath tumor is an extremely rare tumor, which originates from the neural crest, and more than half the cases are associated with Carney complex (myxomas, spotty pigmentation, and endocrine abnormalities). Herein, we have presented a case of a melanotic malignant peripheral nerve sheath tumor, which is not associated with Carney complex. The patient underwent preoperative nonenhanced CT, contrast-enhanced CT, and F-FDG PET/CT scans, which showed a large pelvic tumor with heterogeneous enhancement and increased F-FDG uptake. Subsequently, the patient underwent complete resection of the tumor.


Assuntos
Meios de Contraste , Fluordesoxiglucose F18 , Neurofibrossarcoma/diagnóstico por imagem , Neoplasias Pélvicas/diagnóstico por imagem , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Adulto , Humanos , Masculino , Neurofibrossarcoma/patologia , Neoplasias Pélvicas/patologia
3.
Clin Nucl Med ; 44(8): 648-649, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31274612

RESUMO

Findings of Tc-DTPA renal scintigraphy of a retroperitoneal malignant peripheral nerve sheath tumor are reported here. The patient was a 48-year-old woman who presented discomfort and intermittent dull pain in the left upper quadrant of the abdomen for approximately 3 weeks.


Assuntos
Rim/diagnóstico por imagem , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/patologia , Neoplasias Retroperitoneais/diagnóstico por imagem , Neoplasias Retroperitoneais/patologia , Pentetato de Tecnécio Tc 99m , Feminino , Humanos , Pessoa de Meia-Idade , Cintilografia
4.
Dentomaxillofac Radiol ; 48(7): 20180341, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31188646

RESUMO

Malignant peripheral nerve sheath tumour (MPNST) is a rare mesenchymal tumour which usually presents high grade malignancy. We report an atypical case of intraosseous malignant peripheral nerve sheath tumour on mandible in a 36-year-old male. Patient presented with an incidentally discovered radiolucency on the left anterior mandible and did not complain of any symptoms. Panoramic radiograph and computed tomography showed enlargement of inferior alveolar nerve canal, thinning of the cortex and calcified foci within an expansile mass. Magnetic resonance images revealed heterogeneous hyperintense signal intensity with a well-defined margin on T2 weighted images, heterogeneous enhancement on contrast-enhanced T1 weighted images and intermediate signal intensity and inferior alveolar nerve canal enlargement on T1 weighted images. In spite of benign radiologic characteristics as mentioned above, histopathologic examination of biopsied specimen otherwise revealed a low-grade malignancy. Wide excision of mandible was performed and there has been no loco-regional recurrence or distant metastasis over 1 year following surgery. This case indicates that, even when imaging modalities clearly demonstrate benign nature of intraosseous neurogenic tumour, care must be taken to establish proper treatment plan for assumed malignancy with a definitive histopathological analysis.


Assuntos
Mandíbula , Neoplasias da Bainha Neural , Neurofibrossarcoma , Adulto , Humanos , Imagem por Ressonância Magnética , Masculino , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , Neoplasias da Bainha Neural/diagnóstico por imagem , Neoplasias da Bainha Neural/patologia , Neoplasias da Bainha Neural/cirurgia , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/patologia , Neurofibrossarcoma/cirurgia , Resultado do Tratamento
5.
J Exp Clin Cancer Res ; 38(1): 185, 2019 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-31053152

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumours (MPNSTs) are sarcomas of Schwann cell lineage origin that occur sporadically or in association with the inherited syndrome, neurofibromatosis type 1 (NF1). This study aimed to examine the function of High mobility group protein A2 (HMGA2) in NF1 MPNST progression and the underlying molecular mechanism. METHODS: Immunohistochemistry (IHC) was used to detect HMGA2 expression in MPNST and neurofibroma patient samples. Cell Cycle Kit-8 (CCK-8) and 5-ethynyl-20-deoxyuridine (EdU) assays, terminal deoxynucleotidyl transferase-mediated nick end labelling, and transmission electron microscopy were performed to reveal HMGA2 functions in NF1 MPNST cells in vitro and in vivo. Chromatin immunoprecipitation sequencing (ChIP-Seq) and RNA sequencing (RNA-Seq) were used to detect HMGA2-modulated genes regulating autophagy and growth in NF1 MPNSTs in vitro and in vivo. RESULTS: NF1 MPNST samples exhibit higher HMGA2 positivity rates (13/16) than sporadic MPNST (16/41) and neurofibroma (0/7) patient samples. High HMGA2 expression is correlated with poor prognosis. Neurofibromin 1 (NF1)-deficient MPNST cells display elevated HMGA2 expression. Functional experiments revealed that HMGA2 knockdown inhibits NF1 MPNST cell growth in vitro and in vivo. In addition to promoting cell cycle arrest and apoptosis, HMGA2 knockdown inhibits autophagy, favouring cell death. RNA-Seq and ChIP-Seq revealed that HMGA2 directly activates the Musashi-2 (MSI2) promoter region, and MSI2 overexpression reverses autophagy and growth in shHMGA2-transfected cells. MSI2 interacts with Beclin1, and Beclin1 blockade inhibits autophagy, thereby inhibiting cell proliferation. CONCLUSIONS: HMGA2 knockdown regulates autophagy via MSI2-Beclin1 interactions to inhibit NF1 MPNST growth, revealing potential therapeutic targets for these untreatable tumours.


Assuntos
Proteína HMGA2/genética , Neurofibromina 1/genética , Neurofibrossarcoma/genética , Proteínas de Ligação a RNA/genética , Adulto , Apoptose/genética , Autofagia/genética , Proteína Beclina-1/genética , Linhagem da Célula/genética , Proliferação de Células/genética , Feminino , Regulação Neoplásica da Expressão Gênica , Técnicas de Silenciamento de Genes , Proteína HMGA2/antagonistas & inibidores , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibrossarcoma/patologia , Células de Schwann/metabolismo , Células de Schwann/patologia , Transdução de Sinais/genética
6.
Int J Cardiovasc Imaging ; 35(9): 1615-1618, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31041634

RESUMO

Malignant peripheral nerve sheath tumors are rare sarcomas of children and adolescents, and they are aggressive tumors with a high rate of local recurrence. Here we report a case of a primary cardiac malignant peripheral nerve sheath tumor without neurofibromatosis type I. A 53-year old woman presented having had cough, expectoration, and dyspnea for 20 days and was found to have a heart-involving tumor diagnosed as a malignant peripheral nerve sheath tumor, a rare cardiac sarcoma of 9 × 4.5 × 3 cm in size. The patient underwent a successful resection of the tumor but died 14 months postoperative. We report this case for its rarity and peculiar mode of morphologic and immunohistochemical presentation.


Assuntos
Neoplasias Cardíacas , Neurofibrossarcoma , Biomarcadores Tumorais/análise , Biópsia , Procedimentos Cirúrgicos Cardíacos , Ecocardiografia , Evolução Fatal , Feminino , Neoplasias Cardíacas/química , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Neurofibrossarcoma/química , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/patologia , Neurofibrossarcoma/cirurgia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Carga Tumoral
7.
World Neurosurg ; 128: 422-425, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31108251

RESUMO

BACKGROUND: Malignant melanotic schwannian tumors (MMSTs) are rare peripheral nerve sheath tumors that typically exhibit benign clinical presentation and histopathology but malignant long-term behavior. CASE DESCRIPTION: We report a case of a 22-year-old male with a T9-11 MMST who presented with acute paraplegia and complete loss of sacral function. Despite emergent decompression, he did not recover motor, sensory or bladder function, although bowel function did normalize. CONCLUSIONS: The anatomic location and rapid presentation of permanent deficits are suggestive of infarction of the spinal cord supplied by the artery of Adamkiewicz, a rare presentation of this disorder and of spinal schwannomas in general.


Assuntos
Infarto/etiologia , Neurofibrossarcoma/complicações , Paraplegia/etiologia , Isquemia do Cordão Espinal/etiologia , Neoplasias da Medula Espinal/complicações , Descompressão Cirúrgica , Humanos , Infarto/diagnóstico por imagem , Infarto/patologia , Masculino , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/patologia , Neurofibrossarcoma/cirurgia , Distúrbios Somatossensoriais/etiologia , Isquemia do Cordão Espinal/diagnóstico por imagem , Isquemia do Cordão Espinal/patologia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/patologia , Neoplasias da Medula Espinal/cirurgia , Adulto Jovem
9.
J Neurooncol ; 143(3): 495-503, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31089923

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is extremely rare in soft tissue sarcoma, with a high rate of recurrence and metastasis. Due to its rarity, the epidemiological features and prognostic factors are still uncertain. Moreover, nomograms for patients with MPNST have not been constructed and validated until now. PATIENTS AND METHODS: Patients diagnosed with MPNST between 1973 and 2014 were selected from the Surveillance, Epidemiology, and End Results (SEER) database. Survival analysis, machine learning and Lasso regression were used to identify the prognostic factors for overall survival (OS) and cause-specific survival (CSS). Significant prognostic factors were integrated to construct nomograms and then the nomograms were validated externally with a separate cohort from our own institution. RESULTS: A total of 689 patients were included in the training set and 42 patients in the validation set. Multivariate analysis suggested that age, histology, historic stage and chemotherapy were independent prognostic factors for OS and primary site, surgery, historic stage and chemotherapy for CSS. The nomograms based on multivariate models were developed and validated for predicting 3- and 5-year OS and CSS, with a C-index of 0.686 and 0.707, respectively. In the external validation set, the C-index was 0.700 for OS and 0.722 for CSS. CONCLUSION: ICD-O-3 histology, historic stage and chemotherapy were independent prognostic factors for OS and primary site, surgery, historic stage and chemotherapy for CSS. The constructed nomograms could provide individual prediction for MPNST patients and assist oncologists in making accurate survival evaluation.


Assuntos
Neurofibrossarcoma/mortalidade , Neurofibrossarcoma/patologia , Nomogramas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Neurofibrossarcoma/epidemiologia , Neurofibrossarcoma/terapia , Prognóstico , Programa de SEER , Taxa de Sobrevida , Estados Unidos/epidemiologia , Adulto Jovem
10.
Clin Nucl Med ; 44(6): 494-495, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30889004

RESUMO

MPNSTs (malignant peripheral nerve sheath tumors) are a highly malignant group of soft tissue sarcomas and carry a very poor prognosis. Metastasis to bilateral adrenal glands is very rare in such group of neoplasms. We discuss a case of 85-year-old man who was diagnosed with MPNST from prevertebral mass with metastases to bilateral adrenal glands and bone marrow from the beginning and role of serial F-FDG PET/CT scans in response assessment first to sunitinib (tyrosine kinase inhibitor) and then to liposomal doxorubicin.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias da Bainha Neural/diagnóstico por imagem , Neurofibrossarcoma/diagnóstico por imagem , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Neoplasias das Glândulas Suprarrenais/secundário , Idoso de 80 Anos ou mais , Antineoplásicos/uso terapêutico , Doxorrubicina/uso terapêutico , Fluordesoxiglucose F18 , Humanos , Masculino , Neoplasias da Bainha Neural/tratamento farmacológico , Neoplasias da Bainha Neural/patologia , Neurofibrossarcoma/tratamento farmacológico , Neurofibrossarcoma/patologia , Compostos Radiofarmacêuticos
12.
J Card Surg ; 34(4): 211-213, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30803029

RESUMO

Primary malignant schwannoma of the heart is an extremely rare disease. We, herein, report a 42-year-old female who underwent successful surgical excision of such a tumor.


Assuntos
Neoplasias Cardíacas/cirurgia , Neurofibrossarcoma/cirurgia , Adulto , Ecocardiografia , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Humanos , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/patologia , Resultado do Tratamento
13.
World Neurosurg ; 123: 123-127, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30529515

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are rare, aggressive soft tissue sarcomas. MPNST intracranial metastasis is exceedingly rare with only 22 documented cases in the literature and, to our knowledge, only 1 case with intraparenchymal brain metastasis. Most have been managed surgically; however, 2 documented cases were treated with Gamma Knife radiosurgery. Excluding this case report, there are no other documented cases of linear accelerator-based stereotactic radiosurgery (SRS) to treat MPNST brain metastasis. CASE DESCRIPTION: A 41-year-old man with MPNST of the lung initially underwent tumor resection. He developed multiple systemic metastases that were managed with directed radiation therapy. A parietal brain metastasis was treated with linear accelerator-based SRS. Following SRS therapy, the patient was treated with a tropomyosin receptor kinase inhibitor. Complete resolution of brain metastasis was seen on brain magnetic resonance imaging 5 months after treatment with SRS. At 11 months after SRS, there was no evidence of recurrence or progression of the intraparenchymal disease. The patient continued to have stable extracranial disease on his ninth cycle of systemic treatment. CONCLUSIONS: This report provides important insights into efficacy of linear accelerator-based SRS to treat MPNST brain metastases.


Assuntos
Neoplasias Encefálicas/secundário , Neoplasias Encefálicas/cirurgia , Neoplasias da Bainha Neural/patologia , Neurofibrossarcoma/patologia , Radiocirurgia/instrumentação , Radiocirurgia/métodos , Adulto , Neoplasias Encefálicas/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Aceleradores de Partículas , Tomografia por Emissão de Pósitrons
14.
Malays J Pathol ; 40(3): 355-358, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30580369

RESUMO

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.


Assuntos
Antebraço/patologia , Neurofibrossarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Diferenciação Celular , Feminino , Antebraço/diagnóstico por imagem , Antebraço/cirurgia , Humanos , Hialina/metabolismo , Imagem por Ressonância Magnética , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/metabolismo , Neurofibrossarcoma/cirurgia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/metabolismo , Neoplasias de Tecidos Moles/cirurgia , Ultrassonografia
15.
Folia Neuropathol ; 56(3): 229-234, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30509044

RESUMO

We describe a rare case of intracranial malignant triton tumor (MTT) arising in the middle cranial fossa in a 74-year-old female patient who had previously been exposed to radiation in the Chernobyl disaster. The patient underwent a surgical subtotal removal of the mass and radiation therapy, but the progression-free survival was only 2.5 months and death occurred four months after the onset of symptoms. MTTs are rare aggressive tumors arising from the nerve sheath showing rhabdomyosarcomatous differentiation and associated with a poor prognosis. The intracranial location is very rare, and only 10 cases, including the present report, have been described so far. Among intracranial MTTs, the cerebellopontine angle is the most common location. Neurofibromatosis type 1 (NF-1) and radiation exposure are risk factors as for MTTs located in other sites. The gold standard therapy is surgical excision followed by radiation therapy, but the prognosis is usually very poor.


Assuntos
Fossa Craniana Média/patologia , Neurofibrossarcoma/patologia , Neoplasias da Base do Crânio/patologia , Idoso , Evolução Fatal , Feminino , Humanos , Neurofibrossarcoma/radioterapia , Neurofibrossarcoma/cirurgia , Neoplasias da Base do Crânio/radioterapia , Neoplasias da Base do Crânio/cirurgia
16.
J Neuropathol Exp Neurol ; 77(10): 958-963, 2018 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-30169729

RESUMO

Malignant peripheral nerve sheath tumors (MPNST) are aggressive spindle cell neoplasms that may occur sporadically, often in association with radiation exposure, or in the clinical context of Neurofibromatosis type 1. MPNST are known to harbor genetic alterations affecting the function of polycomb repressive complex 2 (PRC2), resulting in profound changes to global H3K27me3 levels. Recent evidence suggests a link between the polycomb complex and DNA methylation. Given the established epigenetic alterations found in MPNST, we aimed to further explore global methylation changes including 5-methylcystosine (5mC), 5-hydroxymethylcytosine (5hmC), and H3K27me3 levels using previously validated immunolabeling protocols in a representative cohort of 28 peripheral nerve sheath tumors (MPNST [n = 8], localized cutaneous neurofibroma [n = 10], and plexiform neurofibroma [n = 10]). MPNST showed significantly decreased levels of H3K27me3 (p < 0.0002) and 5mC (p = 0.0001) with levels of 5hmC showing borderline statistical significance (p = 0.05) when compared to localized and plexiform neurofibromas. Immunohistochemical findings of decreased H3K27me3 and 5mC further our understanding of global epigenetic alterations observable in MPNST and may provide insight into the basis of tumor progression as well as prognostic and treatment implications in the future.


Assuntos
Metilação de DNA/fisiologia , Neurofibroma Plexiforme/metabolismo , Neurofibroma Plexiforme/patologia , Neurofibrossarcoma/metabolismo , Neurofibrossarcoma/patologia , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibroma/genética , Neurofibroma/metabolismo , Neurofibroma/patologia , Neurofibroma Plexiforme/genética , Neurofibrossarcoma/genética , Adulto Jovem
17.
Histopathology ; 73(6): 969-982, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30137667

RESUMO

AIMS: The diagnosis of malignant peripheral nerve sheath tumour (MPNST) may be challenging, especially in the sporadic setting. Owing to the lack of specific histological criteria, immunohistochemical and molecular diagnostic markers, several differential diagnoses must be considered, especially melanoma. Indeed, although S100 protein usually stains melanoma, other melanocytic markers are often negative, especially in spindle cell/desmoplastic types. This pattern of immunoreactivity resembles that of some nerve-derived tumours such as MPNST. Owing to their different clinical behaviours and therapeutic implications, accurate identification of these two different tumours is crucial. METHODS AND RESULTS: S100, SOX10, KBA62, MITF, HMB45, Melan-A, tyrosinase PNL2 and BRAF-V600E immunostaining was performed in a pathologically and genetically well-characterised cohort of primary MPNST (n = 124), including 66 (53%) NF1-associated tumours. Sox10 and KBA62 expression were found, respectively, in 102 (84%) and in 101 (83%) MPNST, whereas S100 was expressed in 64 cases (52%). We observed an increased loss of S100 with increasing histological grade (P = 0.0052). We found Melan-A expression in 14% (n = 17) of all MPNST, occurring in 82% (n = 14) of cases in an NF1 context. Six per cent (n = 8) of MPNST showed tyrosinase positivity, including seven (87%) NF1-associated. MITF expression was found in 10 (8%) MPNST. None expressed PNL2, HMB45 or BRAF-V600E. CONCLUSION: MPNST (in NF1 and a sporadic setting) can quite often be positive for Melan-A, tyrosinase and MITF. Pathologists should be cognisant of these exceptions to prevent confusion with melanoma.


Assuntos
Biomarcadores Tumorais/metabolismo , Melanócitos/metabolismo , Melanoma/diagnóstico , Neurofibrossarcoma/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Antígeno MART-1/metabolismo , Masculino , Melanócitos/patologia , Melanoma/metabolismo , Melanoma/patologia , Monofenol Mono-Oxigenase/metabolismo , Neurofibrossarcoma/metabolismo , Neurofibrossarcoma/patologia , Proteínas Proto-Oncogênicas B-raf/metabolismo , Proteínas S100/metabolismo , Fatores de Transcrição SOXE/metabolismo
18.
Acta Neurochir (Wien) ; 160(9): 1833-1836, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29974241

RESUMO

Perineural spread has been described in multiple neoplasms of neural and non-neural origin. The peripheral nervous system may represent a highway by which tumors can spread throughout the body. Malignant peripheral nerve sheath tumor (MPNST) is a neoplasm arising from peripheral nerves with high rates of local recurrence and distant metastases, leading to a poor 5-year overall survival. In many cases, the optimal treatment involves wide en bloc excision with negative margins as well as chemotherapy and radiation. Even in cases of negative surgical margins, recurrence rates are high, suggesting possible skip lesions or very distant infiltration along the involved nerve. We report a case of high-grade MPNST of the sciatic nerve with post-mortem dissection and histopathologic characterization of perineural spread of microscopic disease to sites significantly proximal and distal to areas with evidence of gross disease, which may help to explain the high rates of local and distal recurrence in MPNST.


Assuntos
Neurofibrossarcoma/patologia , Pelve/patologia , Nervo Isquiático/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia
19.
Hum Genet ; 137(6-7): 543-552, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30006736

RESUMO

Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities. Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. Here, we studied 15 sporadic patients with multiple non-intradermal schwannomas, but lacking vestibular schwannomas and ophthalmological abnormalities, who fulfilled the clinical diagnostic criteria for schwannomatosis. None of them harboured germline NF2 or SMARCB1 mutations as determined by the analysis of blood samples but seven had germline LZTR1 variants predicted to be pathogenic. At least two independent schwannomas from each patient were subjected to NF2 mutation testing. In five of the 15 patients, identical somatic NF2 mutations were identified (33%). If only those patients without germline LZTR1 variants are considered (n = 8), three of them (37.5%) had mosaic NF2 as concluded from identical NF2 mutations identified in independent schwannomas from the same patient. These findings imply that a sizeable proportion of patients who fulfil the diagnostic criteria for schwannomatosis, are actually examples of mosaic NF2. Hence, the molecular characterization of tumours in patients with a clinical diagnosis of schwannomatosis is very important. Remarkably, two of the patients with germline LZTR1 variants also had identical NF2 mutations in independent schwannomas from each patient which renders differential diagnosis of LZTR1-associated schwannomatosis versus mosaic NF2 in these patients very difficult.


Assuntos
Genótipo , Mutação em Linhagem Germinativa , Neurilemoma/genética , Neurofibromatoses/genética , Neurofibromatose 2/genética , Neurofibrossarcoma/genética , Neoplasias Cutâneas/genética , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurilemoma/patologia , Neurofibromatoses/patologia , Neurofibromatose 2/patologia , Neurofibrossarcoma/patologia , Proteína SMARCB1/genética , Neoplasias Cutâneas/patologia , Fatores de Transcrição/genética
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