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https://www.readbyqxmd.com/read/29909548/molecular-heterogeneity-and-cxorf67-alterations-in-posterior-fossa-group-a-pfa-ependymomas
#1
Kristian W Pajtler, Ji Wen, Martin Sill, Tong Lin, Wilda Orisme, Bo Tang, Jens-Martin Hübner, Vijay Ramaswamy, Sujuan Jia, James D Dalton, Kelly Haupfear, Hazel A Rogers, Chandanamali Punchihewa, Ryan Lee, John Easton, Gang Wu, Timothy A Ritzmann, Rebecca Chapman, Lukas Chavez, Fredrick A Boop, Paul Klimo, Noah D Sabin, Robert Ogg, Stephen C Mack, Brian D Freibaum, Hong Joo Kim, Hendrik Witt, David T W Jones, Baohan Vo, Amar Gajjar, Stan Pounds, Arzu Onar-Thomas, Martine F Roussel, Jinghui Zhang, J Paul Taylor, Thomas E Merchant, Richard Grundy, Ruth G Tatevossian, Michael D Taylor, Stefan M Pfister, Andrey Korshunov, Marcel Kool, David W Ellison
Of nine ependymoma molecular groups detected by DNA methylation profiling, the posterior fossa type A (PFA) is most prevalent. We used DNA methylation profiling to look for further molecular heterogeneity among 675 PFA ependymomas. Two major subgroups, PFA-1 and PFA-2, and nine minor subtypes were discovered. Transcriptome profiling suggested a distinct histogenesis for PFA-1 and PFA-2, but their clinical parameters were similar. In contrast, PFA subtypes differed with respect to age at diagnosis, gender ratio, outcome, and frequencies of genetic alterations...
June 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29809131/cerebellar-high-grade-gliomas-do-not-present-the-same-molecular-alterations-as-supratentorial-high-grade-gliomas-and-may-show-histone-h3-gene-mutations
#2
Arnault Tauziède-Espariat, Raphaël Saffroy, Mélanie Pagès, Johan Pallud, Laurence Legrand, Aurore Besnard, Joëlle Lacombe, Guillaume Lot, Alin Borha, Sanaa Tazi, Homa Adle-Biassette, Marc Polivka, Emmanuèle Lechapt, Pascale Varlet
Numerous molecular alterations have been described in supratentorial high-grade gliomas (1p19q co-deletion, <i>IDH1/2</i>, histone H3, <i>hTERT</i> promotor mutations, loss of ATRX) which have led to a new histomolecular classification of diffuse gliomas. We aimed at describing these alterations in a series of 19 adults with pure cerebellar high-grade gliomas. Systematic immunohistochemical analyses, including that of IDH1R132H, ATRX, p53, PTEN, EGFR, p16, FGFR3, BRAFV600E, mismatch repair proteins, H3K27me3, H3K36me3, and H3K27M; molecular analyses of <i>IDH1/2</i>, <i>hTERT</i>, <i>BRAF</i>, <i>H3F3A</i>, and <i>HIST1H3B</i> mutation hotspots; and <i>EGFR</i>, <i>PTEN</i> FISH were retrospectively performed in a multicentric study...
May 29, 2018: Clinical Neuropathology
https://www.readbyqxmd.com/read/29763623/molecular-pathological-radiological-and-immune-profiling-of-non-brainstem-pediatric-high-grade-glioma-from-the-herby-phase-ii-randomized-trial
#3
Alan Mackay, Anna Burford, Valeria Molinari, David T W Jones, Elisa Izquierdo, Jurriaan Brouwer-Visser, Felice Giangaspero, Christine Haberler, Torsten Pietsch, Thomas S Jacques, Dominique Figarella-Branger, Daniel Rodriguez, Paul S Morgan, Pichai Raman, Angela J Waanders, Adam C Resnick, Maura Massimino, Maria Luisa Garrè, Helen Smith, David Capper, Stefan M Pfister, Thomas Würdinger, Rachel Tam, Josep Garcia, Meghna Das Thakur, Gilles Vassal, Jacques Grill, Tim Jaspan, Pascale Varlet, Chris Jones
The HERBY trial was a phase II open-label, randomized, multicenter trial evaluating bevacizumab (BEV) in addition to temozolomide/radiotherapy in patients with newly diagnosed non-brainstem high-grade glioma (HGG) between the ages of 3 and 18 years. We carried out comprehensive molecular analysis integrated with pathology, radiology, and immune profiling. In post-hoc subgroup analysis, hypermutator tumors (mismatch repair deficiency and somatic POLE/POLD1 mutations) and those biologically resembling pleomorphic xanthoastrocytoma ([PXA]-like, driven by BRAF_V600E or NF1 mutation) had significantly more CD8+ tumor-infiltrating lymphocytes, and longer survival with the addition of BEV...
May 14, 2018: Cancer Cell
https://www.readbyqxmd.com/read/29752148/malignant-primary-diffuse-leptomeningeal-gliomatosis-with-histone-h3-3-k27m-mutation
#4
C Champeaux, A Drier, B Devaux, A Tauziède-Espariat
INTRODUCTION: Malignant primary diffuse leptomeningeal gliomatosis (MPDLG) are rare central nervous system neoplasms associated with a poor outcome. CASE REPORT: We report the case of a 40-year-old woman who presented with unusual worsening of bilateral sciatica, headaches, diplopia and a left proptosis. MRI of the head and spine showed multiple leptomeningeal lesions with no intra parenchymal involvement. The search for a primary tumor was negative. An open surgical biopsy of the prominent intradural lumbar tumor was performed within a week...
May 8, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29718432/impact-of-h3-3-k27m-mutation-on-prognosis-and-survival-of-grade-iv-spinal-cord-glioma-on-the-basis-of-new-2016-world-health-organization-classification-of-the-central-nervous-system
#5
Seong Yi, Sunkyu Choi, Dong Ah Shin, Du Su Kim, Junjeong Choi, Yoon Ha, Keung Nyun Kim, Chang-Ok Suh, Jong Hee Chang, Se Hoon Kim, Do Heum Yoon
BACKGROUND: Spinal cord glioma grade IV is a rare, diffuse midline glioma. H3 K27M-mutant was classified in a different entity in the 2016 World Health Organization (WHO) classification recently. No reports about prognosis of spinal cord glioma grade IV are available yet. OBJECTIVE: To analyze the prognostic factors for spinal cord glioma grade IV. METHODS: Twenty-five patients with spinal cord glioma of grade IV who underwent surgery in a single institute were selected...
May 1, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29703828/anti-gd2-car-t-cells-are-potent-in-h3-k27m-diffuse-midline-gliomas
#6
(no author information available yet)
The disialoganglioside GD2 is an immunotherapeutic target in H3-K27M+ diffuse midline gliomas.
April 27, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29690678/-research-progress-of-diffuse-midline-gliomas-with-histone-h3-k27m-mutation
#7
D L Ma, J J Yao, H F Yin
No abstract text is available yet for this article.
April 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29689253/histone-h3-3-g34-mutations-alter-histone-h3k36-and-h3k27-methylation-in-cis
#8
Leilei Shi, Jiejun Shi, Xiaobing Shi, Wei Li, Hong Wen
Histone H3 encoding genes, particularly H3F3A and H3F3B, the genes encoding the variant histone H3.3, are mutated at high frequency in pediatric brain and bone malignancies. Compared to the extensive studies on K27M and K36M mutations, little is known about the mechanism of G34 mutations found in pediatric glioblastoma or giant cell tumors of the bone. Here we report that unlike the K27M or K36M that affect global histone methylation, the giant cell tumors of the bone G34 mutations (G34L/W) only affect histone H3K36 and H3K27 methylation on the same mutated histone tails (in cis), a mechanism distinct from known histone mutations...
May 25, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29675936/pediatric-ganglioglioma-with-an-h3-k27m-mutation-arising-from-the-cervical-spinal-cord
#9
Tomohiro Okuda, Nobuhiro Hata, Satoshi O Suzuki, Koji Yoshimoto, Koichi Arimura, Takeo Amemiya, Yojiro Akagi, Daisuke Kuga, Utako Oba, Yuhki Koga, Shouichi Ohga, Toru Iwaki, Koji Iihara
The 2016 edition of the World Health Organization Classification of Tumors of the Central Nervous System introduced "diffuse midline glioma H3 K27M mutant" as a new diagnostic entity. These tumors predominately affect pediatric patients and arise from midline structures such as the brainstem, thalamus and spinal cord. Here, we report a rare patient with spinal ganglioglioma carrying an H3 K27M mutation. A 10-year-old boy presented with an intramedullary tumor in the cervical spinal cord. The lesion was partially removed and histologically diagnosed as ganglioglioma...
April 19, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29662203/potent-antitumor-efficacy-of-anti-gd2-car-t-cells-in-h3-k27m-diffuse-midline-gliomas
#10
Christopher W Mount, Robbie G Majzner, Shree Sundaresh, Evan P Arnold, Meena Kadapakkam, Samuel Haile, Louai Labanieh, Esther Hulleman, Pamelyn J Woo, Skyler P Rietberg, Hannes Vogel, Michelle Monje, Crystal L Mackall
Diffuse intrinsic pontine glioma (DIPG) and other diffuse midline gliomas (DMGs) with mutated histone H3 K27M (H3-K27M)1-5 are aggressive and universally fatal pediatric brain cancers 6 . Chimeric antigen receptor (CAR)-expressing T cells have mediated impressive clinical activity in B cell malignancies7-10 , and recent results suggest benefit in central nervous system malignancies11-13 . Here, we report that patient-derived H3-K27M-mutant glioma cell cultures exhibit uniform, high expression of the disialoganglioside GD2...
May 2018: Nature Medicine
https://www.readbyqxmd.com/read/29651718/the-clinicopathological-and-prognostic-significance-of-tp53-alteration-in-k27m-mutated-gliomas-an-individual-participant-data-meta-analysis
#11
Chengya Dong, Zhengrong Yuan, Qi Li, Yajie Wang
This study aimed to investigate the impact of TP53 alteration on survival and clinicopathological features of glioma patients with H3K27M mutations. An individual-participant-data (IPD) meta-analysis was performed to investigate the impact of TP53 alteration on survival and clinicopathological features of patients with H3K27M mutations. Three hundred thirty-one individual records from 12 eligible glioma studies involving the H3K27M mutation were finally included in our meta-analysis, and a pooled hazard ratio (HR) of 1...
April 12, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29613896/neoplastic-myelopathies
#12
Jing Wu, Surabhi Ranjan
PURPOSE OF REVIEW: This article discusses the diagnosis and management of neoplasms that affect the spinal cord as well as spinal cord disorders that can occur due to cancer treatments. RECENT FINDINGS: Neoplastic myelopathies are uncommon neurologic disorders but cause significant morbidity when they occur. Primary spinal cord tumors can be classified into intramedullary, intradural extramedullary, or extradural tumors. Diffuse gliomas and ependymal tumors are the most common intramedullary tumors...
April 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29530692/pathologic-findings-and-clinical-course-of-midline-paraventricular-gliomas-diagnosed-using-a-neuroendoscope
#13
Shinjiro Fukami, Nobuyuki Nakajima, Hirofumi Okada, Jiro Akimoto, Tamotsu Miki, Hirokazu Fukuhara, Yukiko Shishido-Hara, Toshitaka Nagao, Masumi Tsuda, Michihiro Kohno
INTRODUCTION: Removal of midline paraventricular gliomas is difficult because of their deep localization and invasive character, requiring biopsy for pathologic diagnosis. This study aimed to assess the pathologic findings and clinical course of midline paraventricular gliomas diagnosed using a neuroendoscope. METHODS: This study was performed as a retrospective investigation using a neuroendoscope of 26 patients whose tumors were diagnosed as midline paraventricular gliomas...
March 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29470683/clinical-significance-of-the-2016-who-classification-in-japanese-patients-with-gliomas
#14
Toshihiko Iuchi, Takahiro Sugiyama, Miki Ohira, Hajime Kageyama, Sana Yokoi, Tsukasa Sakaida, Yuzo Hasegawa, Taiki Setoguchi, Makiko Itami
In this study, we retrospectively compared the prognostic value of the 2016 WHO classification with the former classification in 387 patients with glioma treated at our institution. According to the new classification, diagnoses included oligodendroglioma with isocitrate dehydrogenase (IDH) mutation and 1p/19q co-deletion (5.4%), anaplastic oligodendroglioma with IDH mutation and 1p/19q co-deletion (3.4%), diffuse astrocytoma IDH-mutated (3.9%), anaplastic astrocytoma IDH-mutated (2.8%), glioblastoma IDH-mutated (7...
April 2018: Brain Tumor Pathology
https://www.readbyqxmd.com/read/29453317/histone-h3-3k27m-mobilizes-multiple-cancer-testis-ct-antigens-in-pediatric-glioma
#15
Houliang Deng, Jianming Zeng, Ting Zhang, Longcai Gong, Hongjie Zhang, Edwin Cheung, Chris Jones, Gang Li
Lysine to methionine mutations at position 27 (K27M) in the histone H3 (H3.3 and H3.1) are highly prevalent in pediatric high-grade gliomas (HGG) that arise in the midline of the central nervous system. H3K27M perturbs the activity of polycomb repressor complex 2 and correlates with DNA hypomethylation; however, the pathways whereby H3K27M drives the development of pediatric HGG remain poorly understood. To understand the mechanism of pediatric HGG development driven by H3.3K27M and discover potential therapeutic targets or biomarkers, we established pediatric glioma cell model systems harboring H3...
April 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29444314/diffuse-astrocytoma-idh-wildtype-a-dissolving-diagnosis
#16
Martin Hasselblatt, Mohammed Jaber, David Reuss, Oliver Grauer, Annkatrin Bibo, Stephanie Terwey, Uta Schick, Heinrich Ebel, Thomas Niederstadt, Walter Stummer, Andreas von Deimling, Werner Paulus
The histological and molecular features and even the mere existence of diffuse astrocytoma, IDH-wildtype, remain unclear. We therefore examined 212 diffuse astrocytomas (grade II WHO) in adults using IDH1(R132H) immunohistochemistry followed by IDH1/IDH2 sequencing and neuroimaging review. DNA methylation status and copy number profiles were assessed by Infinium HumanMethylation450k BeadChip. Only 25/212 patients harbored tumors without IDH1/IDH2 hotspot mutations and without contrast enhancement. By DNA methylation profiling, 10/25 tumors were classified as glioblastoma, IDH-wildtype, and an additional 7 cases could not be classified using methylome analysis, but showed genetic characteristics of glioblastoma...
February 9, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29444279/adult-brainstem-gliomas-with-h3k27m-mutation-radiology-pathology-and-prognosis
#17
Elena V Daoud, Veena Rajaram, Chunyu Cai, Robert J Oberle, Gregory R Martin, Jack M Raisanen, Charles L White, Chan Foong, Bruce E Mickey, Edward Pan, Kimmo J Hatanpaa
Adult brainstem gliomas are difficult to classify based on radiologic and histologic features. A K27M mutation in histone 3 has been described to identify high-grade midline gliomas associated with a particularly unfavorable prognosis. While initially considered a pediatric entity, it is now known that H3K27M-mutant brainstem gliomas occur in all age groups, but they are less well understood in adults. We studied clinical, radiologic, and pathologic features of 25 brainstem gliomas diagnosed at our institution between 1994 and 2017 in subjects at least 18 years old...
April 1, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29393845/h3-k27m-mutant-gliomas-in-adults-vs-children-share-similar-histological-features-and-adverse-prognosis
#18
Bette K Kleinschmidt-DeMasters, Jean M Mulcahy Levy
BACKGROUND: H3 K27M mutation was originally described in pediatric diffuse intrinsic pontine gliomas (DIPGs), but has been recently recognized to occur also in adult midline diffuse gliomas, as well as midline tumors with other morphologies, including gangliogliomas (GGs), anaplastic GGs, pilocytic astrocytomas (PAs), and posterior fossa ependymomas. In a few patients with H3 K27M;mutant tumors with these alternate morphologies, longer survival has been reported, making grading difficult for the neuropathologist...
March 2018: Clinical Neuropathology
https://www.readbyqxmd.com/read/29204027/a-simplified-overview-of-world-health-organization-classification-update-of-central-nervous-system-tumors-2016
#19
REVIEW
Anshu Gupta, Tanima Dwivedi
After 8 years, an update of central nervous system (CNS) tumors was published in 2016 after 2007. First time ever, molecular markers along with histology have been used in classification of any tumor. Major changes are seen in glioma and medulloblastoma groups. Few entities have been added such as diffuse midline glioma, H3 K27M-mutant, RELA fusion-positive ependymoma, embryonal tumor with multilayered rosettes, C19MC-altered, and hybrid nerve sheath tumors. Few variants and patterns that no longer have diagnostic and/or biological relevance and have been deleted such as glioblastoma cerebri, protoplasmic and fibrillary astrocytoma, and cellular ependymoma...
October 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29198324/developing-chemotherapy-for-diffuse-pontine-intrinsic-gliomas-dipg
#20
REVIEW
Ho-Shin Gwak, Hyeon Jin Park
Prognosis of diffuse intrinsic pontine glioma (DIPG) is poor, with a median survival of 10 months after radiation. At present, chemotherapy has failed to show benefits over radiation. Advances in biotechnology have enabled the use of autopsy specimens for genomic analyses and molecular profiling of DIPG, which are quite different from those of supratentorial high grade glioma. Recently, combined treatments of cytotoxic agents with target inhibitors, based on biopsied tissue, are being examined in on-going trials...
December 2017: Critical Reviews in Oncology/hematology
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