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https://www.readbyqxmd.com/read/29675936/pediatric-ganglioglioma-with-an-h3-k27m-mutation-arising-from-the-cervical-spinal-cord
#1
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
#2
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...
April 16, 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
#3
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
#4
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/pathological-findings-and-clinical-course-of-midline-paraventricular-gliomas-diagnosed-using-a-neuroendoscope
#5
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 pathological diagnosis. This study aimed to assess the pathological findings and clinical course of midline paraventricular gliomas diagnosed using a neuroendoscope. METHODS: This study was performed as a retrospective investigation of 26 patients whose tumors were diagnosed as midline paraventricular gliomas using a neuroendoscope...
March 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29470683/clinical-significance-of-the-2016-who-classification-in-japanese-patients-with-gliomas
#6
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...
February 22, 2018: Brain Tumor Pathology
https://www.readbyqxmd.com/read/29453317/histone-h3-3k27m-mobilizes-multiple-cancer-testis-ct-antigens-in-pediatric-glioma
#7
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 (PRC2) and correlates with DNA hypomethylation; however, the pathways whereby H3K27M drive 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...
February 16, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29444314/diffuse-astrocytoma-idh-wildtype-a-dissolving-diagnosis
#8
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
#9
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...
February 10, 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
#10
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...
February 2, 2018: Clinical Neuropathology
https://www.readbyqxmd.com/read/29204027/a-simplified-overview-of-world-health-organization-classification-update-of-central-nervous-system-tumors-2016
#11
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
#12
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
https://www.readbyqxmd.com/read/29196927/characteristics-of-cerebellar-glioblastomas-in-adults
#13
Thiébaud Picart, Marc Barritault, Julien Berthillier, David Meyronet, Alexandre Vasiljevic, Didier Frappaz, Jérôme Honnorat, Emmanuel Jouanneau, Delphine Poncet, François Ducray, Jacques Guyotat
Adult cerebellar glioblastomas (cGBM) are rare and their characteristics remain to be fully described. We analyzed the characteristics of 17 adult patients with cGBM and compared them to a series of 103 patients presenting a supra-tentorial glioblastoma (stGBM). The mean age at GBMc diagnosis was 53.4 years (range 28-77). A history of neurofibromatosis type I was noted in 3 patients. cGBM were hemispheric in 10 patients (58.8%), only vermian in 4 patients (23.5%), and both vermian and hemispheric in 3 patients (17...
February 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29136501/pontine-infantile-glioma-simplified
#14
Vijay Ramaswamy, Michael D Taylor
In this issue of Cancer Cell, Pathania et al. report sporadic childhood histone K27M mutant malignant glioma mouse models that faithfully recapitulate the human tumor phenotypes. Beyond emphasizing the importance of correct timing in mouse modeling of cancer, these models will facilitate research to effectively treat this lethal childhood cancer.
November 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29131126/extending-the-neuroanatomic-territory-of-diffuse-midline-glioma-k27m-mutant-pineal-region-origin
#15
Andrea R Gilbert, Wafik Zaky, Murat Gokden, Christine E Fuller, Eylem Ocal, Norman E Leeds, Gregory N Fuller
Diffuse midline glioma, H3-K27M mutant (DMG-K27M) is a newly described, molecularly distinct infiltrative glioma that almost exclusively arises in midline CNS structures, including the brain stem, especially the pons, as well as the thalamus and spinal cord with rare examples seen in the cerebellum, third ventricle, and hypothalamus. To our knowledge, only 1 case of a molecularly confirmed DMG-K27M arising in the pineal region has been previously reported. We present the second occurrence of a tissue-confirmed DMG-K27M of the pineal region, which, to our knowledge, is the first case reported in a child and the first case with documented preoperative MRI...
2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29108308/a-phase-2-study-of-the-first-imipridone-onc201-a-selective-drd2-antagonist-for-oncology-administered-every-three-weeks-in-recurrent-glioblastoma
#16
Isabel Arrillaga-Romany, Andrew S Chi, Joshua E Allen, Wolfgang Oster, Patrick Y Wen, Tracy T Batchelor
ONC201 is an oral, small molecule selective antagonist of the G protein-coupled receptor DRD2 that causes p53-independent apoptosis in tumor cells via integrated stress response activation and Akt/ERK inactivation. We performed a Phase II study that enrolled 17 patients with recurrent, bevacizumab-naïve, IDH1/2 WT glioblastoma who received 625mg ONC201 every three weeks. Median OS was 41.6 weeks with OS6 of 71% and OS9 of 53%. Seven of 17 patients are alive. PFS6 was 11.8% with two patients remaining on study who continue to receive ONC201 for >12 months...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29107533/h3-3-k27m-cooperates-with-trp53-loss-and-pdgfra-gain-in-mouse-embryonic-neural-progenitor-cells-to-induce-invasive-high-grade-gliomas
#17
Manav Pathania, Nicolas De Jay, Nicola Maestro, Ashot S Harutyunyan, Justyna Nitarska, Pirasteh Pahlavan, Stephen Henderson, Leonie G Mikael, Angela Richard-Londt, Ying Zhang, Joana R Costa, Steven Hébert, Sima Khazaei, Nisreen Samir Ibrahim, Javier Herrero, Antonella Riccio, Steffen Albrecht, Robin Ketteler, Sebastian Brandner, Claudia L Kleinman, Nada Jabado, Paolo Salomoni
Gain-of-function mutations in histone 3 (H3) variants are found in a substantial proportion of pediatric high-grade gliomas (pHGG), often in association with TP53 loss and platelet-derived growth factor receptor alpha (PDGFRA) amplification. Here, we describe a somatic mouse model wherein H3.3K27M and Trp53 loss alone are sufficient for neoplastic transformation if introduced in utero. H3.3K27M -driven lesions are clonal, H3K27me3 depleted, Olig2 positive, highly proliferative, and diffusely spreading, thus recapitulating hallmark molecular and histopathological features of pHGG...
November 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29101159/h3-3-k27m-expression-combined-with-trp53-loss-induces-high-grade-glioma
#18
(no author information available yet)
In utero expression of H3.3(K27M) with Trp53 loss in mice recapitulates human pediatric high-grade glioma.
November 3, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/29016894/diffuse-high-grade-gliomas-with-h3-k27m-mutations-carry-a-dismal-prognosis-independent-of-tumor-location
#19
Michael Karremann, Gerrit H Gielen, Marion Hoffmann, Maria Wiese, Niclas Colditz, Monika Warmuth-Metz, Brigitte Bison, Alexander Claviez, Dannis G van Vuurden, André O von Bueren, Marco Gessi, Ingrid Kühnle, Volkmar H Hans, Martin Benesch, Dominik Sturm, Rolf-Dieter Kortmann, Andreas Waha, Torsten Pietsch, Christof M Kramm
Background: The novel entity of "diffuse midline glioma, H3 K27M-mutant" has been defined in the 2016 revision of the World Health Organization (WHO) classification of tumors of the central nervous system (CNS). Tumors of this entity arise in CNS midline structures of predominantly pediatric patients and are associated with an overall dismal prognosis. They are defined by K27M mutations in H3F3A or HIST1H3B/C, encoding for histone 3 variants H3.3 and H3.1, respectively, which are considered hallmark events driving gliomagenesis...
January 10, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/28986151/braf-v600e-mutation-is-a-significant-prognosticator-of-the-tumour-regrowth-rate-in-brainstem-gangliogliomas
#20
Xin Chen, Changcun Pan, Peng Zhang, Cheng Xu, Yu Sun, Hai Yu, Yuliang Wu, Yibo Geng, Pengcheng Zuo, Zhen Wu, Junting Zhang, Liwei Zhang
BRAF V600E mutations are progression factors in paediatric low-grade gliomas. Furthermore, a high percentage of paediatric brainstem gangliogliomas have BRAF V600E mutations. However, their clinical significance, including possible connections between the biomarkers and ganglioglioma's clinical features, especially a brainstem counterpart, is unclear. To identify potential molecular features predictive of brainstem ganglioglioma's clinical outcomes, a retrospective cohort of 28 World Health Organization (WHO) grade I brainstem gangliogliomas was analysed for BRAF V600E, IDH1 R132H, and IDH2 R172K mutations, TERT C228T/C250T promoter mutation, H3F3A K27M mutation and MGMT methylation...
December 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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