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Article
Open AccessInhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors
Loss of nuclear SMARCB1 (INI1/hSNF5/BAF47) protein expression due to biallelic mutations of the SMARCB1 tumor suppressor gene is a hallmark of atypical teratoid/rhabdoid tumors (ATRT), but the presence of cytopla...
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Article
YAP1-fusions in pediatric NF2-wildtype meningioma
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Article
Open AccessMutant H3 histones drive human pre-leukemic hematopoietic stem cell expansion and promote leukemic aggressiveness
Our ability to manage acute myeloid leukemia (AML) is limited by our incomplete understanding of the epigenetic disruption central to leukemogenesis, including improper histone methylation. Here we examine 16 ...
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Article
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
In the version of this article originally published, the main-text sentence “In three patients of European ancestry, we identified the germline variant encoding p.Ile97Met in TIM-3, which was homozygous in two...
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Article
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
Subcutaneous panniculitis-like T cell lymphoma (SPTCL), a non-Hodgkin lymphoma, can be associated with hemophagocytic lymphohistiocytosis (HLH), a life-threatening immune activation that adversely affects surv...
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Article
Open AccessTRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw
Giant cell lesions of the jaw (GCLJ) are debilitating tumors of unknown origin with limited available therapies. Here, we analyze 58 sporadic samples using next generation or targeted sequencing and report som...
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Article
Open AccessMethylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas
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Article
Open AccessCharacterizing temporal genomic heterogeneity in pediatric high-grade gliomas
Pediatric high-grade gliomas (pHGGs) are aggressive neoplasms representing approximately 20% of brain tumors in children. Current therapies offer limited disease control, and patients have a poor prognosis. Em...
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Article
Brainstem angiocentric gliomas with MYB–QKI rearrangements
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Spatial heterogeneity in medulloblastoma
Michael Taylor, Marco Marra and colleagues analyze spatial tumor heterogeneity in 9 medulloblastomas, 16 high-grade gliomas and 10 renal cell carcinomas, using a combination of transcriptomic and genomic profi...
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Article
Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas
Nada Jabado, Jacek Majewski and colleagues identify mutations in multiple histone H3 genes causing recurrent p.Lys36Met alterations in head and neck squamous cell carcinomas. They show that tumors with these p...
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Article
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. In order to identify underlying genetic alterations and molecular mechanisms, we exami...
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Article
Open AccessSpatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma
Diffuse Intrinsic Pontine Gliomas (DIPGs) are deadly paediatric brain tumours where needle biopsies help guide diagnosis and targeted therapies. To address spatial heterogeneity, here we analyse 134 specimens ...
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Article
Murine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5′-end methylation
Polymorphisms and decreased activity of methylenetetrahydrofolate reductase (MTHFR) are linked to disease, including cancer. However, epigenetic regulation has not been thoroughly studied. Our goal was to generat...
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Article
Open AccessEpigenetic dysregulation: a novel pathway of oncogenesis in pediatric brain tumors
A remarkably large number of “epigenetic regulators” have been recently identified to be altered in cancers and a rapidly expanding body of literature points to “epigenetic addiction” (an aberrant epigenetic s...
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Article
Y-STR diversity in the Himalayas
Linguistic and ethnic diversity throughout the Himalayas suggests that this mountain range played an important role in sha** the genetic landscapes of the region. Previous Y-chromosome work revealed that the...
