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1.
Nature ; 576(7785): 112-120, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31748746

RESUMO

The evolutionary processes that drive universal therapeutic resistance in adult patients with diffuse glioma remain unclear1,2. Here we analysed temporally separated DNA-sequencing data and matched clinical annotation from 222 adult patients with glioma. By analysing mutations and copy numbers across the three major subtypes of diffuse glioma, we found that driver genes detected at the initial stage of disease were retained at recurrence, whereas there was little evidence of recurrence-specific gene alterations. Treatment with alkylating agents resulted in a hypermutator phenotype at different rates across the glioma subtypes, and hypermutation was not associated with differences in overall survival. Acquired aneuploidy was frequently detected in recurrent gliomas and was characterized by IDH mutation but without co-deletion of chromosome arms 1p/19q, and further converged with acquired alterations in the cell cycle and poor outcomes. The clonal architecture of each tumour remained similar over time, but the presence of subclonal selection was associated with decreased survival. Finally, there were no differences in the levels of immunoediting between initial and recurrent gliomas. Collectively, our results suggest that the strongest selective pressures occur during early glioma development and that current therapies shape this evolution in a largely stochastic manner.


Assuntos
Glioma/genética , Adulto , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 19 , Progressão da Doença , Glioma/patologia , Humanos , Isocitrato Desidrogenase/genética , Mutação , Polimorfismo de Nucleotídeo Único , Recidiva
2.
Interv Neuroradiol ; : 15910199241226856, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38234152

RESUMO

Robotic-assisted carotid artery angioplasty and stenting is becoming more popular due to its precision and radiation safety. In this video, we present a case using the CorPath GRX Robotic System (Corindus, a Seimens Healthineers Company, Waltham, Massachusetts, USA) with step-by-step procedure process and technical nuances (video 1). We demonstrate that cervical carotid angioplasty and stenting can be safely performed using the robotic system with efficiency and accuracy.

3.
World Neurosurg ; 139: 253-259, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32305608

RESUMO

BACKGROUND: Sarcoidosis is a granulomatous disease most often affecting the lungs, but extrapulmonary manifestations are also common. While virtually any organ system can be involved, skeletal manifestations are present in 1%-13% of cases. Skull lesions are even more rare. We found 14 case reports describing symptomatic skull lesions in patients with no prior history of sarcoid to better understand the symptomology and disease progression. CASE DESCRIPTION: Here we present the case of a 57-year-old female with history of sarcoidosis and new-onset forgetfulness, confusion, and headaches who was found to have multiple skull lesions with epidural extension. On histopathologic examination of the excised lesion, noncaseating granulomas were observed and diagnoses of skull sarcoidosis and neurosarcoid were made. Since the patient was actively treated with corticosteroids, the plan was to initiate infliximab. CONCLUSION: Sarcoidosis affecting the skull and central nervous system is exceedingly rare and can mimic many pathologies including metastatic bone disease, multiple myeloma, and eosinophilic granulomatosis. With a wide differential, surgical specimen is needed for concrete diagnosis and treatment. While the rates of skeletal involvement are low, a skeletal survey might be an important step in monitoring disease burden in patients, especially as lesions can be asymptomatic.


Assuntos
Doenças Ósseas/patologia , Doenças do Sistema Nervoso Central/patologia , Sarcoidose/patologia , Crânio/patologia , Feminino , Granuloma/patologia , Humanos , Pessoa de Meia-Idade
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