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Meaghan Morris et al.
Journal of neuropathology and experimental neurology, 79(10), 1038-1043 (2020-09-22)
Mutations in histone H3 are key molecular drivers of pediatric and young adult high-grade gliomas. Histone H3 G34R mutations occur in hemispheric high-grade gliomas and H3 K27M mutations occur in aggressive, though histologically diverse, midline gliomas. Here, we report 2
Farzad Fereidouni et al.
Nature biomedical engineering, 1, 957-966 (2017-01-01)
Histologic examination of tissues is central to the diagnosis and management of neoplasms and many other diseases, and is a foundational technique for preclinical and basic research. However, commonly used bright-field microscopy requires prior preparation of micrometre-thick tissue sections mounted
Doreen N Nguyen et al.
Brain pathology (Zurich, Switzerland), 23(3), 237-243 (2012-08-30)
Recent studies suggest that the telomere maintenance mechanism known as alternative lengthening of telomeres (ALT) is relatively more common in specific glioma subsets and strongly associated with ATRX mutations. We retrospectively examined 116 high-grade astrocytomas (32 pediatric glioblastomas, 65 adult
Lauren Fishbein et al.
Nature communications, 6, 6140-6140 (2015-01-22)
Pheochromocytomas and paragangliomas (PCC/PGL) are the solid tumour type most commonly associated with an inherited susceptibility syndrome. However, very little is known about the somatic genetic changes leading to tumorigenesis or malignant transformation. Here we perform whole-exome sequencing on a
Melike Pekmezci et al.
Acta neuropathologica, 133(6), 1001-1016 (2017-03-04)
The "integrated diagnosis" for infiltrating gliomas in the 2016 revised World Health Organization (WHO) classification of tumors of the central nervous system requires assessment of the tumor for IDH mutations and 1p/19q codeletion. Since TERT promoter mutations and ATRX alterations
Asa Bolander et al.
Cancer genomics & proteomics, 5(6), 293-300 (2009-03-17)
Patients with metastazing malignant melanoma have a poor outcome and determination of thickness of the primary tumor remains as the most important prognostic predictor. The aim of this study was to use an antibody-based proteomics strategy to search for new
Ishak D Irwan et al.
mBio, 11(3) (2020-06-04)
Integration of the proviral DNA intermediate into the host cell genome normally represents an essential step in the retroviral life cycle. While the reason(s) for this requirement remains unclear, it is known that unintegrated proviral DNA is epigenetically silenced. Here
Farzad Fereidouni et al.
Nature biomedical engineering, 1(12), 957-966 (2017-12-01)
Histological examination of tissues is central to the diagnosis and management of neoplasms and many other diseases and is a foundational technique for preclinical and basic research. However, commonly used bright-field microscopy requires prior preparation of micrometre-thick tissue sections mounted
Jane B Cryan et al.
Oncotarget, 5(18), 8083-8092 (2014-09-27)
Classifying adult gliomas remains largely a histologic diagnosis based on morphology; however astrocytic, oligodendroglial and mixed lineage tumors can display overlapping histologic features. We used multiplexed exome sequencing (OncoPanel) on 108 primary or recurrent adult gliomas, comprising 65 oligodendrogliomas, 28
W Robert Bell et al.
Brain pathology (Zurich, Switzerland), 29(1), 45-52 (2018-04-19)
We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non-neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of
Diana Cantero et al.
Journal of neuropathology and experimental neurology, 77(8), 710-716 (2018-07-17)
Glioblastoma (GBM) is the most common malignant adult primary brain tumor. Despite its high lethality, a small proportion of patients have a relatively long overall survival (OS). Here we report a study of a series of 74 GBM samples from
Anja Kafka et al.
Croatian medical journal, 59(5), 213-223 (2018-11-06)
To identify the involvement of Secreted Frizzled Related Protein 1 (SFRP1) promoter hypermethylation in different malignancy grades of astrocytoma and assess its association with beta-catenin, lymphoid-enhancer factor 1, and T-cell factor 1. Twenty-six astrocytoma samples were collected from 2008-2015. Promoter
Michał Bieńkowski et al.
Clinical neuropathology, 37(4), 166-177 (2018-06-21)
Typing of diffuse gliomas according to the WHO 2016 Classification of Tumors of the Central Nervous System is based on the integration of histology with molecular biomarkers. However, the choice of appropriate methods for molecular analysis and criteria for interpretation
David Valle-García et al.
Epigenetics, 11(6), 398-414 (2016-04-01)
ATRX is a SWI/SNF chromatin remodeler proposed to govern genomic stability through the regulation of repetitive sequences, such as rDNA, retrotransposons, and pericentromeric and telomeric repeats. However, few direct ATRX target genes have been identified and high-throughput genomic approaches are
Yuchen Jiao et al.
Oncotarget, 3(7), 709-722 (2012-08-08)
Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors. However, the frequency
Sabine A Hartlieb et al.
Nature communications, 12(1), 1269-1269 (2021-02-26)
Telomere maintenance by telomerase activation or alternative lengthening of telomeres (ALT) is a major determinant of poor outcome in neuroblastoma. Here, we screen for ALT in primary and relapsed neuroblastomas (n = 760) and characterize its features using multi-omics profiling. ALT-positive tumors
Christian Koelsche et al.
Acta neuropathologica, 126(6), 907-915 (2013-10-25)
Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT) have recently been described in several human tumor entities. These mutations result in an upregulation of the telomerase complex activity and thus constitute a relevant mechanism for immortalization
Seong-Ik Kim et al.
Journal of pathology and translational medicine, 52(1), 28-36 (2017-09-30)
Mixed gliomas, such as oligoastrocytomas (OA), anaplastic oligoastrocytomas, and glioblastomas (GBMs) with an oligodendroglial component (GBMO) are defined as tumors composed of a mixture of two distinct neoplastic cell types, astrocytic and oligodendroglial. Recently, mutations ATRX and TP53, and codeletion
Mi Jung Kwon et al.
Brain pathology (Zurich, Switzerland), 30(2), 235-245 (2019-08-23)
The extremely invasive phenotypes and genotypes related to progression of gliomatosis cerebri (GC) remain unclear although GC has been removed as an independent entity from the 2016 WHO classification. Hence, categorization of GC under the current WHO molecular classification is
Junbo Liang et al.
FEBS letters, 594(1), 67-78 (2019-07-23)
α-Tthalassemia mental retardation X-linked (ATRX) is a chromatin remodeler frequently mutated in many cancers. Despite the binding pattern of ATRX in heterochromatin, ATRX-mediated epigenomic changes in cancer cells have not been profiled, especially for the heterochromatin regions. Here, we profiled
Harikleia Episkopou et al.
Molecular cell, 75(3), 469-482 (2019-07-07)
A significant fraction (∼10%) of cancer cells maintain their telomere length via a telomerase-independent mechanism known as alternative lengthening of telomeres (ALT). There are no known molecular, ALT-specific, therapeutic targets. We have identified TSPYL5 (testis-specific Y-encoded-like protein 5) as a
Aruna Nambirajan et al.
Brain tumor pathology, 38(1), 30-40 (2020-11-02)
The PFA molecular subgroup of posterior fossa ependymomas (PF-EPNs) shows poor outcome. H3K27me3 (me3) loss by immunohistochemistry (IHC) is a surrogate marker for PFA wherein its loss is attributed to overexpression of Cxorf67/EZH2 inhibitory protein (EZHIP), C17orf96, and ATRX loss.
Marta Mellai et al.
Cells, 9(6) (2020-07-01)
Neuron glial antigen 2 or chondroitin sulphate proteoglycan 4 (NG2/CSPG4) is expressed by immature precursors/progenitor cells and is possibly involved in malignant cell transformation. The aim of this study was to investigate its role on the progression and survival of
Terhi V Ahvenainen et al.
Cancer, 124(24), 4650-4656 (2018-11-14)
Uterine leiomyomas (ULs) are the most common gynecologic tumors and affect 3 of every 4 women by the age of 50 years. The majority of ULs are classified as conventional tumors, whereas 10% represent various histopathological subtypes with features that
Gerald F Reis et al.
Journal of neuropathology and experimental neurology, 74(5), 442-452 (2015-04-09)
Lower-grade (World Health Organization Grades II and III) gliomas vary widely in clinical behavior and are classified as astrocytic, oligodendroglial, or mixed. Anaplasia depends greatly on mitotic activity, with CDKN2A loss considered as the most common mechanism for cell cycle
Christopher M Heaphy et al.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 33(8), 1475-1481 (2020-03-24)
Telomeres are nucleoprotein complexes located at the termini of eukaryotic chromosomes that prevent exonucleolytic degradation and end-to-end chromosomal fusions. Cancers often have critically shortened, dysfunctional telomeres contributing to genomic instability. Telomere shortening has been reported in a wide range of
Mark Barszczyk et al.
Acta neuropathologica, 128(6), 863-877 (2014-08-15)
Pediatric ependymomas are highly recurrent tumors resistant to conventional chemotherapy. Telomerase, a ribonucleoprotein critical in permitting limitless replication, has been found to be critically important for the maintenance of tumor-initiating cells (TICs). These TICs are chemoresistant, repopulate the tumor from
Leomar Y Ballester et al.
Brain pathology (Zurich, Switzerland), 28(6), 1012-1019 (2018-03-07)
Astrocytes with multiple micronuclei ("Creutzfeldt cells") in a brain biopsy are classically associated with demyelinating disease. However, glioblastoma may also have prominent Creutzfeldt astrocytes, along with granular mitoses. Therefore, Creutzfeldt cells may raise the diagnostic dilemma of high-grade glioma vs
J Gregory Cairncross et al.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(8), 783-790 (2014-02-12)
Patients with 1p/19q codeleted anaplastic oligodendroglial tumors who participated in RTOG (Radiation Therapy Oncology Group) 9402 lived much longer after chemoradiotherapy (CRT) than radiation therapy (RT) alone. However, some patients with noncodeleted tumors also benefited from CRT; survival curves separated
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