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Article
Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing
Ossifying fibroma (OF) of the craniofacial skeleton is a fibro-osseous lesion characterized by various patterns of bone formation in a cellular fibroblastic stroma. The molecular landscape of OF remains mostly...
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Article
Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition
Brain tumors are the most common solid tumors of childhood, and the genetic drivers and optimal therapeutic strategies for many of the different subtypes remain unknown. Here, we identify that bithalamic gliom...
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Article
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features
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Article
Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas
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Article
Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1
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Article
The genetic landscape of gliomas arising after therapeutic radiation
Radiotherapy improves survival for common childhood cancers such as medulloblastoma, leukemia, and germ cell tumors. Unfortunately, long-term survivors suffer sequelae that can include secondary neoplasia. Gli...
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Article
Open AccessOligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts
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Article
Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile
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Article
Open AccessThe genetic landscape of ganglioglioma
Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset of gangliogliomas are known to harbor the activating p.V600E mutatio...
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Article
Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation
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Article
Open AccessA recurrent kinase domain mutation in PRKCA defines chordoid glioma of the third ventricle
Chordoid glioma is a rare brain tumor thought to arise from specialized glial cells of the lamina terminalis along the anterior wall of the third ventricle. Despite being histologically low-grade, chordoid gli...
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Article
Angiocentric glioma with MYB-QKI fusion located in the brainstem, rather than cerebral cortex
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Article
Open AccessCHIP−/−-Mouse Liver: Adiponectin-AMPK-FOXO-Activation Overrides CYP2E1-Elicited JNK1-Activation, Delaying Onset of NASH: Therapeutic Implications
Genetic ablation of C-terminus of Hsc70-interacting protein (CHIP) E3 ubiquitin-ligase impairs hepatic cytochrome P450 CYP2E1 degradation. Consequent CYP2E1 gain of function accelerates reactive O2 species (ROS) ...
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Article
Open AccessDifferential hepatotoxicity of dietary and DNL-derived palmitate in the methionine-choline-deficient model of steatohepatitis
Saturated fatty acids are toxic to liver cells and are believed to play a central role in the pathogenesis of non-alcoholic steatohepatitis. In experimental steatohepatitis induced by feeding mice a methionine...
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Chapter
Lynch Syndrome
A 42-year-old woman underwent an endometrial biopsy for dysfunctional uterine bleeding. The biopsy demonstrated a International Federation of Gynecology and Obstetrics (FIGO) grade 2 endometrioid endometrial a...
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Article
Open AccessHeritable epigenetic mutation of MLHI in a mother and daughter with Lynch syndrome
