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Artificial-intelligence-based molecular classification of diffuse gliomas using rapid, label-free optical imaging
Molecular classification has transformed the management of brain tumors by enabling more accurate prognostication and personalized treatment. However, timely molecular diagnostic testing for patients with brai...
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Article
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1
High-grade astrocytoma with piloid features (HGAP) is a recently recognized glioma type whose classification is dependent on its global epigenetic signature. HGAP is characterized by alterations in the mitogen...
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Central Nervous System, Peripheral Nervous System, and Eye
This chapter covers the central nervous system (CNS), peripheral nervous system (PNS), and the eyes. Cerebral spinal fluid (CSF) is often sampled by lumbar puncture or ventricular catheter/shunt as a window in...
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Article
A novel ATXN1-DUX4 fusion expands the spectrum of ‘CIC-rearranged sarcoma’ of the CNS to include non-CIC alterations
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Article
Open AccessDiscriminating pseudoprogression and true progression in diffuse infiltrating glioma using multi-parametric MRI data through deep learning
Differentiating pseudoprogression from true tumor progression has become a significant challenge in follow-up of diffuse infiltrating gliomas, particularly high grade, which leads to a potential treatment dela...
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Article
H3K27M-mutant diffuse midline glioma with extensive intratumoral microthrombi in a young adult with COVID-19-associated coagulopathy
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Article
Near real-time intraoperative brain tumor diagnosis using stimulated Raman histology and deep neural networks
Intraoperative diagnosis is essential for providing safe and effective care during cancer surgery1. The existing workflow for intraoperative diagnosis based on hematoxylin and eosin staining of processed tissue i...
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Article
Pediatric craniopharyngioma in association with familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome driven by germline loss-of-function of the APC gene and phenotypically manifests with intestinal polyposis and a variety of extra-intestina...
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Article
Open AccessPotential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis
Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopat...
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Article
Open AccessBRAF activating mutations involving the β3-αC loop in V600E-negative anaplastic pleomorphic xanthoastrocytoma
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Article
Fast and slide-free imaging
Optical imaging of fluorescently labelled tissue illuminated by ultraviolet light does not require microscope slides and makes for a rapid alternative to conventional histology.
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Article
Rapid intraoperative histology of unprocessed surgical specimens via fibre-laser-based stimulated Raman scattering microscopy
Conventional methods for intraoperative histopathologic diagnosis are labour- and time-intensive, and may delay decision-making during brain-tumour surgery. Stimulated Raman scattering (SRS) microscopy, a labe...
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Article
Open Access5th International Symposium on Focused Ultrasound
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Open AccessCNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity
Amplification of the C19MC oncogenic miRNA cluster and high LIN28 expression has been linked to a distinctly aggressive group of cerebral CNS-PNETs (group 1 CNS-PNETs) arising in young children. In this study, we...
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Article
Mutant IDH1-specific immunohistochemistry distinguishes diffuse astrocytoma from astrocytosis