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Humanos , Lactente , Pré-Escolar , Criança , Polineuropatias/diagnóstico , Transtornos da Visão/diagnóstico , Epilepsias Parciais/diagnóstico , Xantogranuloma Juvenil/diagnóstico , Neurofibromatoses/complicações , Neurofibromatoses/diagnóstico , Neurofibromatoses/diagnóstico por imagem , Meningioma/diagnóstico , Deficiência Intelectual/diagnóstico , Neurilemoma/diagnóstico , Diagnóstico DiferencialRESUMO
Our pilot study aimed at exploratory radiogenomic data analysis in patients with NF2-associated schwannomatosis (formerly neurofibromatosis type II) to assume the potential of image biomarkers in this pathology. Fifty-three unrelated patients (37 (69.8%) women, avg. age 30.2 ± 11.2 y.o.) were enrolled in the study. First-order, gray-level co-occurrence matrix (GLCM), gray-level run length matrix (GLRLM), and geometry-based statistics were calculated (3718 features per region of interest). We demonstrated imaging patterns and statistically significant differences in radiomic features potentially related to the genotype and clinical phenotype of the disease. However, the clinical utility of these patterns should be further evaluated. The study was supported by the Russian Science Foundation grant 21-15-00262.
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Neurofibromatoses , Neurofibromatose 2 , Feminino , Masculino , Humanos , Neurofibromatose 2/diagnóstico por imagem , Neurofibromatose 2/genética , Projetos Piloto , Neurofibromatoses/diagnóstico por imagem , Neurofibromatoses/genética , Análise de DadosRESUMO
Sporadic neurofibromas of the nipple-areolar complexes are exceptional even in patients with neurofibromatosis. Diffuse neurofibroma is an uncommon subtype of neurofibroma that has received little attention in the imaging literature. As are most superficial lesions, it is often evaluated clinically and if biopsy is needed, it is usually performed without imaging. However the imaging data is quite characteristic with the aim of evaluating the extension in depth and detecting an underlying cancer. We report a case of women without a history of neurofibromatosis presenting a skin thickening disfiguring her left breast, related to diffuse neurofibroma of the nipple-areolar complexes confirmed histologically. We study echo-mammography and breast magnetic resonance imaging (MRI) findings in order to highlight its radiographics features.
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Neurofibroma/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagem , Mamilos/diagnóstico por imagem , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Mamografia , Neurofibroma/patologia , Neurofibromatoses/patologia , Mamilos/patologiaRESUMO
Neoplasms of the peripheral nervous system represent a heterogenous group with a wide spectrum of morphological features and biological potential. They range from benign and curable by complete excision (schwannoma and soft tissue perineurioma) to benign but potentially aggressive at the local level (plexiform neurofibroma) to the highly malignant (malignant peripheral nerve sheath tumors [MPNST]). In this review, we discuss the diagnostic and pathologic features of common peripheral nerve sheath tumors, particularly those that may be encountered in the intracranial compartment or in the spine and paraspinal region. The discussion will cover schwannoma, neurofibroma, atypical neurofibromatous neoplasms of uncertain biological potential, intraneural and soft tissue perineurioma, hybrid nerve sheath tumors, MPNST, and the recently renamed enigmatic tumor, malignant melanotic nerve sheath tumor, formerly referred to as melanotic schwannoma. We also discuss the diagnostic relevance of these neoplasms to specific genetic and familial syndromes of nerve, including neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. In addition, we discuss updates in our understanding of the molecular alterations that represent key drivers of these neoplasms, including neurofibromatosis type 1 and type 2, SMARCB1, LZTR1, and PRKAR1A loss, as well as the acquisition of CDKN2A/B mutations and alterations in the polycomb repressor complex members (SUZ12 and EED) in the malignant progression to MPNST. In summary, this review covers practical aspects of pathologic diagnosis with updates relevant to neurosurgical practice.
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Nervos Periféricos/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/genética , Animais , Humanos , Neoplasias de Bainha Neural/diagnóstico por imagem , Neoplasias de Bainha Neural/genética , Neoplasias de Bainha Neural/patologia , Neurilemoma/diagnóstico por imagem , Neurilemoma/genética , Neurilemoma/patologia , Neurofibroma/diagnóstico por imagem , Neurofibroma/genética , Neurofibroma/patologia , Neurofibromatoses/diagnóstico por imagem , Neurofibromatoses/genética , Neurofibromatoses/patologia , Nervos Periféricos/patologia , Neoplasias do Sistema Nervoso Periférico/patologia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Fatores de Transcrição/genéticaRESUMO
No disponible
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Humanos , Masculino , Pessoa de Meia-Idade , Neuropatia Tibial/genética , Neoplasias do Sistema Nervoso Periférico/genética , Neurilemoma/genética , Neoplasias Cutâneas/genética , Neurofibromatoses/genética , Fatores de Transcrição/genética , Mutação , Imageamento por Ressonância Magnética , Neuropatia Tibial/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagemRESUMO
A schwannoma is a benign tumor that arises from the myelin-producing Schwann cells that surround nerves. We herein report a case involving a 55-year-old man who first presented to our clinic with a schwannoma of the posterior tibial nerve and 5 years later with a schwannoma of the ulnar nerve. This is the first report of schwannomatosis of the ulnar and posterior tibial nerves.
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Neurilemoma , Neurofibromatoses , Neoplasias Cutâneas , Extremidades , Humanos , Masculino , Pessoa de Meia-Idade , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgia , Neurofibromatoses/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagemRESUMO
Chest pain in low risk patients is a common ED presentation. Rarely, these patients can have life-threatening conditions requiring timely diagnosis and intervention. There are currently standardized protocols for diagnosing cardiac ischemia, pulmonary embolus, and aortic dissection in low risk patients. Even more rare entities such as esophageal perforation, hemo/pneumothorax, and cardiac tamponade must also be kept in mind. We present the case of chest pain in a 33 year old male reporting no significant past medical history who developed spontaneous massive hemothorax while being evaluated in the ED. Subsequent investigation revealed that the patient had neurofibromatosis; the etiology of aneurysmal rupture in neurofibromatosis is discussed.
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Dor no Peito/etiologia , Neurofibromatoses/complicações , Adulto , Dor no Peito/diagnóstico por imagem , Serviço Hospitalar de Emergência , Hemotórax/complicações , Hemotórax/diagnóstico , Hemotórax/diagnóstico por imagem , Hemotórax/etiologia , Humanos , Masculino , Neurofibromatoses/diagnóstico , Neurofibromatoses/diagnóstico por imagem , Radiografia Torácica , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Little information about the natural history of peripheral nerve schwannomas exists in the literature. The aim of this study was to determine the natural history of those tumors both in sporadic and schwannomatosis cases to determine their growth rates and patterns. METHODS: In 44 patients from 3 surgical centers, hospital charts, follow-up records, and imaging studies were reviewed. Of these patients, 7 had sporadic schwannomatosis. Histological diagnosis was obtained in 37 patients (84%). Tumor growth rates were determined by calculating the absolute and relative growth rates. RESULTS: On the 47 tumors analyzed, the median tumor size at diagnosis was 1.8 cm3, and the majority of tumors were located in the lower limb (62%). The absolute growth rate ranged from - 1.13 to 23.17 cm3/year (mean, 1.69 cm3/year). Relative annual growth rates ranged from - 9 to 166%/year (mean, 33.9%/year). There was no clear correlation between initial tumor size, age at diagnosis, and tumor growth rate. Six patients (13%) harbored "fast-growing" tumors (absolute growth rate > 2 cm3/year and relative growth rate > 35%/year) while 19% of tumors demonstrate no growth or negative growth. In schwannomatosis patients, each tumor displayed a distinct growth pattern. CONCLUSION: This study confirms the slow-growing nature of most, but not all, peripheral nerve schwannomas. Additional studies are mandatory to explore the environmental factors influencing growth in sporadic cases and the precise growth patterns in schwannomatosis cases to detect the rare cases of malignant transformation and pave the way to the evaluation of future clinical trials.
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Neurilemoma/patologia , Neurofibromatoses/patologia , Doenças do Sistema Nervoso Periférico/patologia , Neoplasias Cutâneas/patologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurilemoma/diagnóstico por imagem , Neurilemoma/etiologia , Neurofibromatoses/diagnóstico por imagem , Neurofibromatoses/etiologia , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/etiologia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/etiologiaRESUMO
A 51-year-old man with 30-year neurofibromatosis and 2-month elevated prostate-specific antigen and back pain underwent a Ga-prostate-specific membrane antigen (PSMA) PET/CT scan for possible prostate cancer. Prostate-specific membrane antigen PET/CT imaging showed no abnormal uptake of the prostate. However, in addition to PSMA uptake in his left lung, thorax, and right ilium, which was confirmed being a lung squamous cell carcinoma by a lung biopsy, widespread uptake was also observed in his skin fibroma lesions. This case demonstrates that benign neurofibromatosis could have uptake of PSMA.
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Glicoproteínas de Membrana/metabolismo , Neurofibromatoses/metabolismo , Compostos Organometálicos/metabolismo , Transporte Biológico , Isótopos de Gálio , Radioisótopos de Gálio , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatoses/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia ComputadorizadaRESUMO
No disponible
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Humanos , Feminino , Pessoa de Meia-Idade , Fluordesoxiglucose F18 , Recidiva Local de Neoplasia/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Compostos Radiofarmacêuticos , Neoplasias Cutâneas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Fluoreto de SódioAssuntos
Fluordesoxiglucose F18 , Recidiva Local de Neoplasia/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Compostos Radiofarmacêuticos , Neoplasias Cutâneas/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Fluoreto de SódioRESUMO
Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize outcomes. This review will discuss the imaging appearance of NF1, NF2, and SWN and highlight the important role that imaging plays in informing management decisions in people with tumors associated with these syndromes. Recent technological advances, including the role of both whole-body and localized imaging strategies, routine anatomic and advanced magnetic resonance (MR) imaging sequences such as diffusion-weighted imaging (DWI) with quantitative apparent diffusion coefficient (ADC) mapping, and metabolic imaging techniques (MR spectroscopy and positron emission testing) are discussed in the context of the diagnosis and management of people with NF1, NF2, and SWN based on the most up-to-date clinical imaging studies.
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Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/métodos , Neurilemoma/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagem , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 2/diagnóstico por imagem , Tomografia por Emissão de Pósitrons/métodos , Neoplasias Cutâneas/diagnóstico por imagem , HumanosRESUMO
INTRODUCTION: Correction of severe orbital and globe malposition from neurofibromatosis remains a significant clinical challenge. Current techniques including zygoma osteotomy, bone grafting, or placement of orbital implants do not adequately address aberrant anatomy, under-correct the deformity, and are prone to relapse. The authors have developed the orbital box segmentation osteotomy to reduce vertical orbital height and translocate the orbit and use patient-specific custom internal orbital titanium implants to close the cranio-orbital communication-reestablishing both the external orbital shape and internal orbital volume. METHODS: Virtual surgical planning with contralateral mirror imaging was used to design symmetrical repositioning of the external orbit and to determine segmentation required to reduce the vertical excess and inferior rim malposition as well as for manufacturing patient-specific titanium implants. Orbital volume was measured from preoperative, virtual surgical simulation, and postoperative imaging using stereotactic software. Globe position was assessed using pre- and postoperative 3-dimensional photography software (Canfield). RESULTS: All patients (nâ=â3, mean age 12 years) demonstrated improved globe position and orbital contour with resolution of globe pulsatility. Virtual surgical planning predicted postoperative volumes within 0.8âcmâ±â0.5. Mean volume orbital change was 4.5âcm, change in conformation and distribution of orbital volume was present in all patients. Vertical globe position improved from 11.5âmm preoperatively to within 1âmm of the unaffected side postoperatively. One patient had surgical site infection, there is no evidence of relapse at mean 24-months follow-up. CONCLUSION: Segmental box osteotomy with internal orbital reconstruction redistributes orbital volume safely and accurately addresses globe malposition from neurofibromatosis.
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Neurofibromatoses/diagnóstico por imagem , Órbita/diagnóstico por imagem , Neoplasias Orbitárias/diagnóstico por imagem , Adolescente , Criança , Feminino , Humanos , Imageamento Tridimensional , Masculino , Neurofibromatoses/cirurgia , Órbita/cirurgia , Neoplasias Orbitárias/cirurgia , Osteotomia/métodos , Procedimentos de Cirurgia PlásticaAssuntos
Encéfalo/patologia , Neurofibromatoses/diagnóstico , Neurofibromatoses/patologia , Tíbia/patologia , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Encéfalo/diagnóstico por imagem , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Masculino , Neurofibromatoses/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Tálamo/patologia , Tíbia/diagnóstico por imagemRESUMO
We report a case of a 51-year-old woman with neurofibromatosis who presented in 2012 with postmenopausal bleeding. Excision biopsy of a pigmented lesion of the labia minora was consistent with an ulcerated vulvar BRAF wild type malignant melanoma (MM). Initial excision was followed by radical vulvectomy and adjuvant interferon. Local recurrence in January 2017 was further resected. Positron emission tomography (PET)-CT in May 2017 identified an FDG avid omental deposit; consistent histologically with MM when resected. Postoperative PET-CT in August 2017 demonstrated local recurrence. In the setting of resected stage IV disease and a third local recurrence, the decision was made to instigate immunotherapy. Vulvar melanoma is rare accounting for 0.2% of all melanoma. Presentation is typically a decade later than cutaneous melanoma with a tendency to late metastases and poorer prognosis. Given their rarity the treatment paradigm is less clearly defined and largely extrapolated from that of cutaneous melanomas.
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Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Melanoma/diagnóstico por imagem , Recidiva Local de Neoplasia/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagem , Neoplasias Vulvares/diagnóstico por imagem , Feminino , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Humanos , Imunoterapia , Melanoma/tratamento farmacológico , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Neurofibromatoses/tratamento farmacológico , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Resultado do Tratamento , Neoplasias Vulvares/tratamento farmacológicoRESUMO
Imaging is fundamental to diagnosis and management of pediatric patients with cancer and cancer predisposition syndromes (CPSs). Whole-body MRI has emerged as a versatile tool for pediatric oncologic imaging, with the potential to spare children from ionizing radiation imparted by conventional modalities such as CT and PET. Whole-body MRI also enables simultaneous high-resolution local-regional staging and wide field-of-view distant staging in the same imaging session, with superior evaluation of the brain, spine, liver, and marrow. Recent technical advances have reduced imaging times and enhanced image quality, with continued advances on the near horizon. Pulse sequences such as whole-body diffusion-weighted imaging have also broadened the range of diagnostic information obtainable. In addition, increasing identification of children with CPSs has compelled efforts to establish surveillance imaging strategies for affected individuals, with whole-body MRI playing a pivotal role in screening algorithms for several CPSs. In light of these emerging trends, a working knowledge of oncologic whole-body MRI applications and evolving CPS surveillance algorithms is vital to providers who participate in the care of pediatric patients affected by or predisposed to cancer. Recognizing both the strengths and limitations of whole-body MRI not only enables more thoughtful implementation but also improves the accuracy of image interpretation. ©RSNA, 2019 See discussion on this article by Khanna .
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Imageamento por Ressonância Magnética/métodos , Neoplasias/diagnóstico por imagem , Síndromes Neoplásicas Hereditárias/diagnóstico por imagem , Imagem Corporal Total/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Síndrome de Li-Fraumeni/diagnóstico por imagem , Masculino , Oncologia , Estadiamento de Neoplasias/métodos , Neurofibromatoses/diagnóstico por imagem , Paraganglioma/diagnóstico por imagem , Pediatria , Feocromocitoma/diagnóstico por imagemRESUMO
A 22-year-old woman in Army Basic Combat Training was evaluated in a physical therapy clinic for insidious-onset groin pain. The referring primary care physician assistant ordered initial radiographs, which were noncontributory, followed by a bone scan that indicated a left inferior pubic ramus stress fracture. She was prescribed a 30-day convalescent leave. Due to the palpable mass and severe pain upon return, the physical therapist ordered magnetic resonance imaging, which showed plexiform neurofibromas, with a left buttock mass and left inferior pubic ramus stress fracture. J Orthop Sports Phys Ther 2019;49(1):37. doi:10.2519/jospt.2019.7495.
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Fraturas de Estresse/complicações , Fraturas de Estresse/diagnóstico por imagem , Neurofibromatoses/complicações , Neurofibromatoses/diagnóstico por imagem , Osso Púbico/lesões , Nádegas/diagnóstico por imagem , Feminino , Virilha , Humanos , Imageamento por Ressonância Magnética , Militares , Neurofibromatoses/cirurgia , Dor/etiologia , Osso Púbico/diagnóstico por imagem , Nervo Isquiático/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND: Schwannomatosis is the third subtype of neurofibromatosis. Because the tumor is multiple and prone to recurrence, it often brings challenges to clinical diagnosis and treatment. In the past decade, researchers have come to realize the relationship between the SMARCB1 gene and schwannomatosis, which is expected to improve the current level of diagnosis and treatment. CASE DESCRIPTION: We collected the clinical data of intraspinal schwannomatosis in the same family, which is rare, and carried out the genetic tests on 3 generations of family members (N = 25). We found that 8 family members had germline mutations of the SMARCB1 gene, manifested as mutation at the splice site between SMARCB1 gene exon 8 and 9 (c.1118 + 1G > A). CONCLUSIONS: The structural and functional abnormalities of proteins caused by the mutations of the SMARCB1 gene may be the molecular basis for the pathogenesis of schwannomatosis in this family. This study may provide clues for the study of schwannomatosis in the future.