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1.
J Cancer Res Ther ; 16(3): 630-633, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32719279

RESUMO

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.


Assuntos
Neurofibrossarcoma/patologia , Neoplasias Faríngeas/patologia , Sistema Nervoso Simpático/patologia , Adulto , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Pescoço/diagnóstico por imagem , Pescoço/patologia , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/cirurgia , Espaço Parafaríngeo/diagnóstico por imagem , Espaço Parafaríngeo/patologia , Neoplasias Faríngeas/diagnóstico por imagem , Neoplasias Faríngeas/cirurgia , Doenças Raras/diagnóstico por imagem , Doenças Raras/patologia , Doenças Raras/cirurgia , Sistema Nervoso Simpático/diagnóstico por imagem , Sistema Nervoso Simpático/cirurgia
2.
Medicine (Baltimore) ; 99(26): e20725, 2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32590748

RESUMO

RATIONALE: Malignant peripheral nerve sheath tumor (MPNST) is a rare sarcoma. Owing to the lack of specific histological criteria, immunohistochemical, and molecular diagnostic markers, several differential diagnoses must be considered. Advances in molecular testing can provide significant insights for management of rare tumor. PATIENT CONCERNS: The patient was a 50-year-old man with a history of lumpectomy on the right back 30 years ago. He felt a stabbing pain at the right iliac fossa and went to the local hospital. DIAGNOSIS: By immunohistochemistry, the tumor cells stained positively for S-100 (focal +), CD34 (strong +++) and Ki-67 (20%), and negatively for smooth muscle actin, pan-cytokeratin, neurofilament, pan-cytokeratin-L, GFAP, CD31, STAT6, ERG, myogenin, and MyoD1. Combined with the histopathology and immunohistochemistry results, our initial diagnosis was solitary fibrous tumor (SFT) or MPNST. The tissue biopsy was sent for next-generation sequencing. neurofibromatosis type 1 Q1395Hfs*22 somatic mutation, neurofibromatosis type 1 D483Tfs*15 germline mutation, and amplifications of BTK, MDM2, ATF1, BMPR1A, EBHA2, GNA13, PTPN11, RAD52, RPTOR, and SOX9, as well as TJP1-ROS1 fusion, CDKN2A-IL1RAPL2 fusion and CDKN2A/UBAP1 rearrangement were identified. Given that NAB2-STAT6 fusion, a specific biomarker of SFT, was not identified in our patient's tumor, the SFT was excluded by through genetic testing results. Therefore, our finally diagnosis was a MPNST by 2 or more pathologists. INTERVENTIONS AND OUTCOMES: Subsequently, the patient received crizotinib therapy for 2 months and showed stable disease. However, after crizotinib continued treatment for 4 months, the patient's disease progressed. Soon after, the patient stopped crizotinib treatment and died in home. LESSONS: To our knowledge, this is the first report of the TJP1-ROS1 fusion, which expands the list of gene fusions and highlights new targets for targeted therapy. Also, our case underlines the value of multi-gene panel next-generation sequencing for diagnosis of MPNST.


Assuntos
Crizotinibe/administração & dosagem , Fusão Gênica/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Neurofibrossarcoma , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Proteína da Zônula de Oclusão-1/genética , Antineoplásicos/administração & dosagem , Diagnóstico Diferencial , Progressão da Doença , Monitoramento de Medicamentos , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Fibroso/diagnóstico , Neurofibrossarcoma/tratamento farmacológico , Neurofibrossarcoma/genética , Neurofibrossarcoma/patologia , Resultado do Tratamento
3.
World Neurosurg ; 138: 246-252, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32179188

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are rare nervous system tumors that rarely appear on the scalp. About half of the scalp MPNSTs described in the literature have reached giant dimensions at the time of diagnosis. The surgical treatment is the gold standard for this type of tumor. Some authors suggest adjuvant radiotherapy for local tumor control, although there is uncertainty about its advantages and its use is not without risks. CASE DESCRIPTION: We present the case of a 31-year-old man who presented with a large necrotic scalp tumor of the left frontoparietal convexity. magnetic resonance imaging showed a large extra-axial tumor, measuring 17 x 17 x 8 cm, centered on the soft tissues, with skull erosion and signs of dural invasion, although with no intradural component. The tumor was surgically removed and the osteocutaneous defect was reconstructed with a latissimus dorsi muscle free flap. The anatomopathologic diagnosis was MPNST. The patient then underwent adjuvant radiotherapy. After 7 months he developed a progressive right hemiparesis and magnetic resonance imaging showed results compatible with cerebral radiation necrosis. This motor deficit improved with corticotherapy. After 9 months the patient went back to his home country and was subsequently lost to follow-up. CONCLUSIONS: Giant MPNSTs of the scalp are highly aggressive lesions that should primarily be treated in a surgical fashion. Although adjuvant radiotherapy has been used routinely for local tumor control, there is uncertainty about its advantages.


Assuntos
Neoplasias de Cabeça e Pescoço/terapia , Neurofibrossarcoma/terapia , Adulto , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Masculino , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/patologia , Couro Cabeludo
4.
Cancer Immunol Immunother ; 69(7): 1307-1313, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32193699

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are rare aggressive sarcomas with poor prognosis. More than half of MPNSTs develop from benign precursor tumors associated with neurofibromatosis type 1 (NF1) which is a tumor suppressor gene disorder. Early detection of malignant transformation in NF1 patients is pivotal to improving survival. The primary aim of this study was to evaluate the role of immuno-modulators as candidate biomarkers of malignant transformation in NF1 patients with plexiform neurofibromas as well as predictors of response to immunotherapeutic approaches. METHODS: Sera from a total of 125 NF1 patients with quantified internal tumor load were included, and 25 of them had MPNSTs. A total of six immuno-modulatory factors (IGFBP-1, PD-L1, IFN-α, GM-CSF, PGE-2, and AXL) were measured in these sera using respective ELISA. RESULTS: NF1 patients with MPNSTs had significantly elevated PD-L1 levels in their sera compared to NF1 patients without MPNSTs. By contrast, AXL concentrations were significantly lower in sera of NF1-MPNST patients. IGFBP-1 and PGE2 serum levels did not differ between the two patient groups. IFN-α and GM-CSF were below the detectable level in most samples. CONCLUSION: The immuno-modulator PD-L1 is upregulated in MPNST patients and therefore may provide as a potential biomarker of malignant transformation in patients with NF1 and as a response predictor for immunotherapeutic approaches.


Assuntos
Antígeno B7-H1/sangue , Biomarcadores Tumorais/sangue , Neurofibrossarcoma/sangue , Neurofibrossarcoma/patologia , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Prognóstico , Carga Tumoral
6.
Pediatr Blood Cancer ; 67(4): e28138, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31889416

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNST) are rare and aggressive non-rhabdomyoblastic soft-tissue sarcomas (NRSTS) in children. This study set out to investigate clinical presentation, treatment modalities, and factors associated with survival in pediatric MPNST using Dutch nationwide databases. METHODS: Data were obtained from the Netherlands Cancer Registry (NCR) and the Dutch Pathology Database (PALGA) from 1989 to 2017. All primary MPNSTs were collected. Demographic differences were analyzed between adult and pediatric (age ≤18 years) MPNST. In children, demographic and treatment differences between neurofibromatosis type 1 (NF1) and non-NF1 were analyzed. A Cox proportional hazard model was constructed for localized pediatric MPNSTs. RESULTS: A total of 70/784 MPNST patients were children (37.1% NF1). Children did not present differently from adults. In NF1 children, tumor size was more commonly large (> 5 cm, 92.3% vs 59.1%). Localized disease was primarily resected in 90.6%, and radiotherapy was administered in 37.5%. Non-NF1 children tended to receive chemotherapy more commonly (39.5% vs 26.9%). Overall, estimated five-year survival rates of localized NF1-MPNST was 52.4% (SE: 10.1%) compared with 75.8% (SE: 7.1%) in non-NF1 patients. The multivariate model showed worse survival in NF1 patients (HR: 2.98; 95% CI, 1.17-7.60, P = 0.02) and increased survival in patients diagnosed after 2005 (HR: 0.20; 95% CI, 0.06-0.69, P = 0.01). No treatment factors were independently associated with survival. CONCLUSION: Pediatric MPNSTs have presentations similar to adult MPNSTs. In children, NF1 patients present with larger tumors, but are treated similarly to non-NF1 MPNSTs. In localized pediatric MPNST, NF1 is associated with worse survival. Promisingly, survival has increased for pediatric MPNSTs after 2005.


Assuntos
Neurofibromatoses/mortalidade , Neurofibrossarcoma/mortalidade , Sistema de Registros/estatística & dados numéricos , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Países Baixos , Neurofibromatoses/complicações , Neurofibromatoses/patologia , Neurofibromatoses/terapia , Neurofibrossarcoma/complicações , Neurofibrossarcoma/patologia , Neurofibrossarcoma/terapia , Prognóstico , Taxa de Sobrevida , Adulto Jovem
7.
Ann Thorac Surg ; 109(3): e199-e201, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31400331

RESUMO

A 71-year-old male former smoker was referred for worsening hemoptysis from a hilar left tumor without radiologic or bronchoscopic identification of the bleeding source. He underwent an urgent upper lobectomy extended to the pericardium and left phrenic nerve to control active bleeding. Histologic analysis revealed a malignant triton tumor, a rare aggressive subtype of malignant peripheral nerve sheath tumors. This is a case report of unusual pulmonary involvement associated with hemoptysis. Despite radical surgery and multimodal treatment with adjuvant chemotherapy the patient died of systemic dissemination 10 months after surgery, with a disease-free survival of 3 months.


Assuntos
Neoplasias Pulmonares/patologia , Neurofibrossarcoma/patologia , Idoso , Diagnóstico Diferencial , Evolução Fatal , Hemoptise/etiologia , Humanos , Neoplasias Pulmonares/complicações , Masculino , Neurofibrossarcoma/complicações , Exacerbação dos Sintomas
8.
J Vet Med Sci ; 81(12): 1859-1862, 2019 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-31645521

RESUMO

Here, we describe the clinical and histopathological characteristics of a malignant peripheral nerve sheath tumor (MPNST) extending from the dorsal subcutis to the periphery of the spine in a female guinea pig aged 3 years 7 months. The patient presented with pleural and blood-like pericardial effusion and died. The tumor had invaded the spine and the surrounding muscles and had grown in hypercellular and hypocellular arrangements of round, broad-spindle, and elongated-spindle cells. We observed a fascicular growth pattern, nuclear palisading, and perivascular accumulations of cells that responded positively to anti-S100, sox10, and CD56 antibodies. This is the first report of a MPSNT in a guinea pig.


Assuntos
Cobaias , Neoplasias da Bainha Neural/veterinária , Neurofibrossarcoma/veterinária , Neoplasias de Tecidos Moles/veterinária , Animais , Feminino , Neoplasias da Bainha Neural/patologia , Neurofibrossarcoma/patologia , Derrame Pericárdico/veterinária , Derrame Pleural/veterinária , Neoplasias de Tecidos Moles/patologia
9.
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
10.
Clin Neurol Neurosurg ; 185: 105484, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31421588

RESUMO

OBJECTIVE: Primary spinal intradural malignant peripheral nerve sheath tumors (MPNSTs) are exceedingly rare, and there is limited published information regarding these lesions. The purpose of this study was to analyze the clinical course, treatment, and outcome of primary spinal intradural MPNSTs. PATIENTS AND METHODS: A retrospective study was performed on 8 patients with primary spinal intradural MPNSTs who were surgically treated and pathologically confirmed in our institution between 2007 and 2018. RESULTS: There were 3 females and 5 males, with a median age of 46.5 years (range, 21-68 years). Limb weakness was the most common clinical symptom (5/8, 62.5%). The radiological diagnosis was meningioma or schwannoma in most patients (7/8, 87.5%). Malignancies were graded high in 5 cases (62.5%) and low in 3 cases (37.5%). Gross total resection (GTR) was performed in 5 cases, while subtotal resection (STR) was achieved in 3 cases. The mean follow-up period was 48.9 months (range, 10-160 months). During follow-up, local recurrence occurred in 6/8 cases (75.0%) and distant metastasis occurred in 2/8 cases (25.0%). The median survival time (MST) of these 8 patients was 21.0 months. The overall 1-year, 2-year, and 5-year survival rates were 87.5% (7/8), 50.0% (4/8), and 25.0% (2/8), respectively. CONCLUSIONS: Primary spinal intradural MPNST is a challenging clinical entity given its high local relapse rate. Primary spinal intradural MPNSTs radiologically present themselves heterogeneous and thus difficult to distinguish from schwannomas or meningiomas. Surgical resection, especially GTR, is the preferential treatment for primary spinal intradural MPNSTs.


Assuntos
Neurofibrossarcoma/cirurgia , Procedimentos Neurocirúrgicos , Neoplasias do Sistema Nervoso Periférico/cirurgia , Raízes Nervosas Espinhais , Adulto , Idoso , Quimioterapia Adjuvante , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Recidiva Local de Neoplasia , Neurofibrossarcoma/diagnóstico , Neurofibrossarcoma/patologia , Neoplasias do Sistema Nervoso Periférico/diagnóstico , Neoplasias do Sistema Nervoso Periférico/patologia , Radioterapia Adjuvante , Estudos Retrospectivos , Carga Tumoral , Adulto Jovem
11.
Rev. medica electron ; 41(4): 1003-1011, jul.-ago. 2019. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1094104

RESUMO

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.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Mama/patologia , Imuno-Histoquímica/métodos , Neoplasias da Mama Masculina/cirurgia , Neoplasias da Mama Masculina/diagnóstico , Neoplasias da Mama Masculina/etiologia , Neoplasias da Mama Masculina/patologia , Neoplasias da Mama Masculina/tratamento farmacológico , Neoplasias da Mama Masculina/radioterapia , Mastectomia , Sarcoma de Células Claras , Neurofibrossarcoma/cirurgia , Neurofibrossarcoma/diagnóstico , Neurofibrossarcoma/etiologia , Neurofibrossarcoma/patologia
12.
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
13.
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
14.
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
15.
Fam Cancer ; 18(4): 445-449, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31240424

RESUMO

A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner's syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex mass standardised uptake value max = 4.3. Computerised tomography-guided biopsy of lesion A was reported as neurofibroma with occasional atypia, lesion B a benign uterine leiomyoma and lesion C follicular lymphoma world health organisation Grade 2. Although she had been given the diagnosis of Neurofibromatosis Type-1 (NF1) 25-years previously following removal of an intradural extramedullary schwannoma she had no cutaneous stigmata of NF1. Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis. Following 6-months chemotherapy for lymphoma, surgery was performed to remove lesion A. Histology revealed a malignant peripheral nerve sheath tumour with areas of low and high-grade change. An incidental, well-differentiated small bowel neuroendocrine carcinoma was also excised. Close surveillance continues with no recurrence after 6 years. This case study describes a novel finding of three separate synchronous primary malignancies in a patient with schwannomatosis and a proven SMARCB1 pathogenic variant.


Assuntos
Hemangioma/genética , Neoplasias Primárias Múltiplas/genética , Neurilemoma/genética , Neurofibromatoses/genética , Neurofibrossarcoma/genética , Proteína SMARCB1/genética , Neoplasias Cutâneas/genética , Feminino , Hemangioma/terapia , Síndrome de Horner/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/terapia , Neurilemoma/complicações , Neurilemoma/patologia , Neurilemoma/terapia , Neurofibromatoses/complicações , Neurofibromatoses/terapia , Neurofibrossarcoma/patologia , Neurofibrossarcoma/terapia , Neoplasias Retroperitoneais/genética , Neoplasias Retroperitoneais/terapia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/terapia
16.
Pediatr Blood Cancer ; 66(10): e27833, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31241238

RESUMO

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNST) are rare tumors of childhood. The role of standard chemotherapy in unresectable MPNST is still unclear. We report the outcome and prognostic factors in the EpSSG risk-adapted prospective study for localized pediatric MPNST. METHODS: Patients were stratified into four treatment groups defined by surgical resection, tumor size, and tumor grade (G): (a) surgery-only group-resected tumors G1; (b) adjuvant radiotherapy group-R0/R1, G2 tumors; (c) adjuvant chemotherapy group-R0/R1, G3 tumors; and (d) neoadjuvant chemotherapy group-R2 resected tumors and/or nodal involvement. Chemotherapy consisted of four courses of ifosfamide-doxorubicin and two courses of ifosfamide concomitant with radiotherapy (50.4-54 Gy). RESULTS: Overall, the study included 51 patients. The 5-year event-free survival (EFS) and overall survival (OS) were 52.9% (95% confidence interval, 38.1-65.8) and 62.1% (46.7-74.3), respectively. The 5-year EFS was 92% (56.6-98.9) for treatment group 1 (N = 13), 33% (0.9-77.4) for treatment group 2 (N = 4), 29% (4.1-61.2) for treatment group 3 (N = 7), and 42% (23.1-60.1) for treatment group 4 (N = 27). Response rate to chemotherapy (partial response + complete response) in patients with measurable disease was 46%. The presence of neurofibromatosis type 1 (NF1; 51% of patients) was an independent poor prognostic factor for OS and EFS. CONCLUSION: The outcome for patients with resectable MPNST was excellent. Standard ifosfamide-doxorubicin for unresectable MPNST rendered the best reported outcome. Children with NF1 disease seem to have worse prognosis.


Assuntos
Quimiorradioterapia Adjuvante/métodos , Neurofibrossarcoma/patologia , Neurofibrossarcoma/terapia , Adolescente , Criança , Pré-Escolar , Intervalo Livre de Doença , Europa (Continente) , Feminino , Humanos , Lactente , Masculino , Neurofibrossarcoma/mortalidade , Prognóstico , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
18.
Neuro Oncol ; 21(11): 1389-1400, 2019 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-31127849

RESUMO

BACKGROUND: The Ras signaling pathway is commonly dysregulated in human malignant peripheral nerve sheath tumors (MPNSTs). It is well known that galectin-1 (Gal-1) is essential to stabilize membrane Ras and thereby induce the activation of Ras. However, the role of Gal-1 in MPNST progression remains unknown. The aim of this study was to examine whether Gal-1 knockdown could have an effect on the Ras signaling pathway. METHODS: Cell viability, apoptosis assay, and colony formation were performed to examine the effects of inhibition of Gal-1 in MPNST cells. We used a human MPNST xenograft model to assess growth and metastasis inhibitory effects of Gal-1 inhibitor LLS2. RESULTS: Gal-1 was upregulated in MPNST patients and was highly expressed in MPNST cells. Knockdown of Gal-1 by small interfering (si)RNA in Gal-1 expressing MPNST cells significantly reduces cell proliferation through the suppression of C-X-C chemokine receptor type 4 (CXCR4) and the rat sarcoma viral oncogene homolog (RAS)/extracellular signal-regulated kinase (ERK) pathway, which are important oncogenic signaling in MPNST development. Moreover, Gal-1 knockdown induces apoptosis and inhibits colony formation. LLS2, a novel Gal-1 allosteric small molecule inhibitor, is cytotoxic against MPNST cells and was able to induce apoptosis and suppress colony formation in MPNST cells. LLS2 treatment and Gal-1 knockdown exhibited similar effects on the suppression of CXCR4 and RAS/ERK pathways. More importantly, inhibition of Gal-1 expression or function by treatment with either siRNA or LLS2 resulted in significant tumor responses in an MPNST xenograft model. CONCLUSION: Our results identified an oncogenic role of Gal-1 in MPNST and that its inhibitor, LLS2, is a potential therapeutic agent, applied topically or systemically, against MPNST.


Assuntos
Antineoplásicos/farmacologia , Apoptose/efeitos dos fármacos , Galectina 1/antagonistas & inibidores , Neurofibrossarcoma/patologia , Receptores CXCR4/antagonistas & inibidores , Bibliotecas de Moléculas Pequenas/farmacologia , Proteínas ras/antagonistas & inibidores , Animais , Biomarcadores Tumorais , Movimento Celular , Proliferação de Células , Feminino , Galectina 1/genética , Galectina 1/metabolismo , Regulação Neoplásica da Expressão Gênica , Humanos , Camundongos , Camundongos Nus , Neurofibrossarcoma/tratamento farmacológico , Neurofibrossarcoma/metabolismo , Prognóstico , RNA Interferente Pequeno/genética , Receptores CXCR4/genética , Receptores CXCR4/metabolismo , Transdução de Sinais , Células Tumorais Cultivadas , Ensaios Antitumorais Modelo de Xenoenxerto , Proteínas ras/genética , Proteínas ras/metabolismo
19.
Open Vet J ; 9(1): 49-53, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-31086766

RESUMO

An 8-yr-old French Bulldog was presented with a non-ambulatory tetraparesis. Magnetic resonance showed an intradurally located mass at the level of the right second cervical nerve root. The mass was surgically removed and the dog was ambulatory within 4 d. A 10-mo post-surgical imaging follow-up revealed a recurrence of the primary mass and another intradural/intramedullary mass at the level of the first thoracic vertebral body. Overall histological features were suggestive of malignant peripheral nerve sheath tumor (MPNST) for both masses. Immunohistochemistry was found weak but diffusely positive for S-100 and neurono-specific enolase for both masses. A diagnosis of primary MPNST for the cervical mass and of metastasis for the thoracic mass was made, possibly disseminated via the subarachnoidal space. To our knowledge, the central nervous system metastasis of MPNSTs has not previously been reported in dogs. The clinician should be aware that these tumors, albeit rarely, can metastasize to the central nervous system.


Assuntos
Neoplasias do Sistema Nervoso Central/veterinária , Doenças do Cão/patologia , Neoplasias da Bainha Neural/veterinária , Neurofibrossarcoma/veterinária , Neoplasias do Sistema Nervoso Periférico/veterinária , Animais , Neoplasias do Sistema Nervoso Central/diagnóstico , Neoplasias do Sistema Nervoso Central/secundário , Doenças do Cão/diagnóstico , Cães , Masculino , Metástase Neoplásica , Neoplasias da Bainha Neural/diagnóstico , Neoplasias da Bainha Neural/patologia , Neoplasias da Bainha Neural/secundário , Neurofibrossarcoma/diagnóstico , Neurofibrossarcoma/patologia , Neoplasias do Sistema Nervoso Periférico/diagnóstico , Neoplasias do Sistema Nervoso Periférico/patologia , Raízes Nervosas Espinhais/patologia
20.
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
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