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https://www.readbyqxmd.com/read/29244145/biological-and-therapeutic-implications-of-multisector-sequencing-in-newly-diagnosed-glioblastomas
#1
Tatenda Mahlokozera, Ananth K Vellimana, Tiandao Li, Diane D Mao, Zohny S Zohny, David H Kim, David D Tran, Daniel S Marcus, Sarah J Fouke, Jian L Campian, Gavin P Dunn, Christopher A Miller, Albert H Kim
Background: Diagnostic workflows for glioblastoma (GBM) patients increasingly include DNA sequencing-based analysis of a single tumor site following biopsy or resection. We hypothesized that sequencing of multiple sectors within a given tumor would provide a more comprehensive representation of the molecular landscape and potentially inform therapeutic strategies. Methods: 10 newly diagnosed, IDH1 wildtype GBM tumor samples were obtained from two (n = 9) or four (n = 1) spatially distinct tumor regions...
December 13, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29226763/mipss70-mutation-enhanced-international-prognostic-score-system-for-transplantation-age-patients-with-primary-myelofibrosis
#2
Paola Guglielmelli, Terra L Lasho, Giada Rotunno, Mythri Mudireddy, Carmela Mannarelli, Maura Nicolosi, Annalisa Pacilli, Animesh Pardanani, Elisa Rumi, Vittorio Rosti, Curtis A Hanson, Francesco Mannelli, Rhett P Ketterling, Naseema Gangat, Alessandro Rambaldi, Francesco Passamonti, Giovanni Barosi, Tiziano Barbui, Mario Cazzola, Alessandro M Vannucchi, Ayalew Tefferi
Purpose To develop a prognostic system for transplantation-age patients with primary myelofibrosis (PMF) that integrates clinical, cytogenetic, and mutation data. Patients and Methods The study included 805 patients with PMF age ≤ 70 years recruited from multiple Italian centers and the Mayo Clinic (Rochester, MN), forming two independent learning and validation cohorts. A Cox multivariable model was used to select from among a list of 22 variables those that were predictive of overall survival (OS). Integrated clinical and genetic prognostic models with (MIPSS70-plus) or without (MIPSS70) cytogenetic information were developed...
December 9, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29224049/enchondromatosis-associated-oligodendroglioma-case-report-and-literature-review
#3
Takamune Achiha, Hideyuki Arita, Naoki Kagawa, Tsuyoshi Murase, Jun-Ichiro Ikeda, Eiichi Morii, Yonehiro Kanemura, Yasunori Fujimoto, Haruhiko Kishima
Enchondromatosis is a rare skeletal disorder characterized by the development of multiple enchondromas, which can also manifest non-cartilage tumors including gliomas. Here, we describe a genetic analysis of a low-grade glioma that developed in an enchondromatosis case. A 32-year-old man with a long history of enchondromatosis developed a left frontal tumor. The histopathological findings of his surgical specimen revealed characteristics of a low-grade glioma with an IDH1 c.395G>A (R132H) mutation and 1p/19q codeletion, which led to a definitive diagnosis of oligodendroglioma...
December 9, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/29218851/clinical-experience-with-the-bcl2-inhibitor-venetoclax-in-combination-therapy-for-relapsed-and-refractory-acute-myeloid-leukemia-and-related-myeloid-malignancies
#4
Courtney D DiNardo, Caitlin R Rausch, Christopher Benton, Tapan Kadia, Nitin Jain, Naveen Pemmaraju, Naval Daver, Wendy Covert, Kayleigh R Marx, Morgan Mace, Elias Jabbour, Jorge Cortes, Guillermo Garcia-Manero, Farhad Ravandi, Kapil N Bhalla, Hagop Kantarjian, Marina Konopleva
INTRODUCTION: Venetoclax (VEN), a selective BCL2 inhibitor, has single-agent activity in relapsed and refractory (R/R) acute myeloid leukemia (AML) and efficacy in lower-intensity combinations for treatment-naïve elderly AML patients. VEN treatment combinations in R/R AML have not been previously reported. METHODS: All R/R myeloid patients (including AML, myelodysplastic syndrome (MDS), and blastic plasmacytoid dendritic cell neoplasm (BPDCN)) treated with VEN combinations in the salvage setting were reviewed...
December 8, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29218546/establishing-cut-off-points-with-clinical-relevance-for-bcl-2-cyclin-d1-p16-p21-p27-p53-sox11-and-wt1-expression-in-glioblastoma-a-short-report
#5
Emma Camacho-Urkaray, Jorge Santos-Juanes, Francisco Borja Gutiérrez-Corres, Beatriz García, Luis M Quirós, Isabel Guerra-Merino, José Javier Aguirre, Iván Fernández-Vega
PURPOSE: Glioblastoma (GBM) ranks among the most challenging cancers to treat and there is an urgent need for clinically relevant prognostic and diagnostic biomarkers. Here, we set out to investigate the expression of eight proteins (bcl-2, cyclin D1, p16, p21, p27, p53, Sox11 and WT1) in GBM with the specific aim to establish immunohistochemistry cut-off points with clinical relevance. METHODS: Immunohistochemistry (IHC) was used to examine protein expression in 55 surgical GBM specimens using H-scores, and IHC cut-off points were established using the Cutoff Finder web platform...
December 7, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/29193057/prognostic-utility-of-six-mutated-genes-for-older-patients-with-acute-myeloid-leukemia
#6
Jinghan Wang, Zhixin Ma, Qinrong Wang, Qi Guo, Jiansong Huang, Wenjuan Yu, Huanping Wang, Jingwen Huang, Yang Washington Shao, Suning Chen, Jie Jin
Approximately 50% of older patients with acute myeloid leukemia (AML) do not obtain chromosomal abnormalities as an effective risk-stratification, and present cytogenetically normal AML (CN-AML). In order to develop a reliable prediction model for stratifying the risk of these elderly patients, we conducted a study with a discovery and validation design. As a result, we found the top 6 mutated genes in the discovery cohort of 26 case by the whole exome sequencing, and verified as recurrent mutations in the large cohort of 329 patients by sanger sequencing...
November 29, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29181548/non-driver-mutations-in-patients-with-jak2v617f-mutated-polycythemia-vera-or-essential-thrombocythemia-with-long-term-molecular-follow-up
#7
Alicia Senín, Concepción Fernández-Rodríguez, Beatriz Bellosillo, Laura Camacho, Raquel Longarón, Anna Angona, Carles Besses, Alberto Álvarez-Larrán
JAK2V617F monitoring and NGS of non-driver genes was performed in 100 patients with polycythemia vera (PV) or essential thrombocythemia (ET) with long molecular follow-up. Patients who did not progress to myelofibrosis (MF) or acute myeloid leukemia (AML) after more than 10 years (n = 50) showed a low frequency of mutations at first sample (18%) and an incidence rate of 1.7 new mutations × 100 person-years. Mutations were detected at first sample in 83% of PV/ET patients who later progressed to AML (n = 12) with these patients having a rate of 25...
November 27, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29180699/mutant-idh1-dependent-chromatin-state-reprogramming-reversibility-and-persistence
#8
Sevin Turcan, Vladimir Makarov, Julian Taranda, Yuxiang Wang, Armida W M Fabius, Wei Wu, Yupeng Zheng, Nour El-Amine, Sara Haddock, Gouri Nanjangud, H Carl LeKaye, Cameron Brennan, Justin Cross, Jason T Huse, Neil L Kelleher, Pavel Osten, Craig B Thompson, Timothy A Chan
Mutations in IDH1 and IDH2 (encoding isocitrate dehydrogenase 1 and 2) drive the development of gliomas and other human malignancies. Mutant IDH1 induces epigenetic changes that promote tumorigenesis, but the scale and reversibility of these changes are unknown. Here, using human astrocyte and glioma tumorsphere systems, we generate a large-scale atlas of mutant-IDH1-induced epigenomic reprogramming. We characterize the reversibility of the alterations in DNA methylation, the histone landscape, and transcriptional reprogramming that occur following IDH1 mutation...
November 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29175980/glioma-survival-prediction-with-the-combined-analysis-of-in-vivo-11c-met-pet-ex-vivo-and-patient-features-by-supervised-machine-learning
#9
Laszlo Papp, Nina Poetsch, Marko Grahovac, Victor Schmidbauer, Adelheid Woehrer, Matthias Preusser, Markus Mitterhauser, Barbara Kiesel, Wolfgang Wadsak, Thomas Beyer, Marcus Hacker, Tatjana Traub-Weidinger
Gliomas are the most common types of tumors in the brain. While the definite diagnosis is routinely made ex vivo by histopathologic and molecular examination, diagnostic work-up of patients with suspected glioma is mainly done by using magnetic resonance imaging (MRI). Nevertheless, L-S-methyl-11C-methionine (11C-MET) Positron Emission Tomography (PET) holds a great potential in characterization of gliomas. The aim of this study was to establish machine learning (ML) driven survival models for glioma built on 11C-MET-PET, ex vivo and patient characteristics...
November 24, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/29172136/idh1-and-idh2-mutations-in-postoperative-diffuse-glioma-associated-epilepsy
#10
Andrew Neal, Patrick Kwan, Terence John O'Brien, Michael E Buckland, Michael Gonzales, Andrew Morokoff
OBJECTIVE: Isocitrate dehydrogenase 1 and 2 mutations (IDH1/2) have an established association with preoperative seizures in patients with grades II-IV diffuse gliomas. Here, we examined if IDH1/2 mutations are a biomarker of postoperative seizure frequency. METHODS: This was a retrospective study. Patients with grades II-IV supratentorial diffuse glioma, immunohistochemistry results of IDH1-R132H, and antiepileptic drug (AED) prescribed postoperatively were included...
November 21, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29170066/glioma-epigenetics-from-subclassification-to-novel-treatment-options
#11
REVIEW
Olga Gusyatiner, Monika E Hegi
Gliomas are the most common malignant primary brain tumors, of which glioblastoma is the most malignant form (WHO grade IV), and notorious for treatment resistance. Over the last decade mutations in epigenetic regulator genes have been identified as key drivers of subtypes of gliomas with distinct clinical features. Most characteristic are mutations in IDH1 or IDH2 in lower grade gliomas, and histone 3 mutations in pediatric high grade gliomas that are also associated with characteristic DNA methylation patterns...
November 20, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/29169920/a-glycolysis-based-ten-gene-signature-correlates-with-the-clinical-outcome-molecular-subtype-and-idh1-mutation-in-glioblastoma
#12
Cong Chen, Yu Shi, Yong Li, Zhi-Cheng He, Kai Zhou, Xiao-Ning Zhang, Kai-Di Yang, Jin-Rong Wu, Hsiang-Fu Kung, Yi-Fang Ping, Xiu-Wu Bian
Reprogrammed metabolism is a hallmark of cancer. Glioblastoma (GBM) tumor cells predominantly utilize aerobic glycolysis for the biogenesis of energy and intermediate nutrients. However, in GBM, the clinical significance of glycolysis and its underlying relations with the molecular features such as IDH1 mutation and subtype have not been elucidated yet. Herein, based on glioma datasets including TCGA (The Cancer Genome Atlas), REMBRANDT (Repository for Molecular Brain Neoplasia Data) and GSE16011, we established a glycolytic gene expression signature score (GGESS) by incorporating ten glycolytic genes...
September 21, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29166738/-expression-characteristics-and-prognosis-significance-of-mirna-181a-in-acute-myeloid-leukemia-with-normal-karyotype
#13
X X Zhuang, Q L Ma, H P Wang, M X Yu, X Li, H T Meng, W J Yu, C J Jin, L S You, J Jin
Objective: To study the expression of miRNA-181a in acute myeloid leukemia (AML) patients with normal karyotype to probe its prognosis significance. Methods: The expression level of miRNA-181a in bone marrow mononuclear cells of 120 de novo AML patients with normal karyotype was detected by real time fluorescence quantitative PCR. The direct sequencing method was used to detect IDH1, IDH2, NPM1, FLT3-ITD, DNMT3A and CEBPα mutations in CN-AML patients after PCR. The relationship between miRNA-181a expression and gene mutation, the clinical parameters and prognosis were analyzed...
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29165315/an-expression-screen-for-aged-dependent-micrornas-identifies-mir-30a-as-a-key-regulator-of-aging-features-in-human-epidermis
#14
Charlotte Muther, Lara Jobeili, Maëlle Garion, Sandrine Heraud, Amélie Thepot, Odile Damour, Jérôme Lamartine
The mechanisms affecting epidermal homeostasis during aging remain poorly understood. To identify age-related microRNAs, a class of non-coding RNAs known to play a key role in the regulation of epidermal homeostasis, an exhaustive miRNA expression screen was performed in human keratinocytes from young or elderly subjects. Many microRNAs modulated by aging were identified, including miR-30a, in which both strands were overexpressed in aged cells and epidermal tissue. Stable MiR-30a over-expression strongly impaired epidermal differentiation, inducing severe barrier function defects in an organotypic culture model...
November 19, 2017: Aging
https://www.readbyqxmd.com/read/29164635/influence-of-genetic-variants-of-idh1-idh2-tet2-and-dnmt3a-on-cytarabine-cytotoxicity-in-different-populations
#15
Y Wang, J K Lamba
WHAT IS KNOWN AND OBJECTIVE: Cytarabine (ara-C) is the mainstay of treatment for acute myeloid leukaemia. Resistance and toxicity are common reasons for its treatment failure. Genetic variants of susceptibility genes may be involved in resistance and toxicity to ara-C. This study is aimed to explore the association between influence of genetic variants of IDH1, IDH2, TET2 and DNMT3A on cytarabine cytotoxicity in European and/or African populations. METHODS: HapMap cell lines derived from European descent (CEU) and African descent (YRI) were exposed to ara-C at different concentrations (1, 5, 40 and 80 μmol/L)...
November 21, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/29163774/integrative-analysis-of-novel-hypomethylation-and-gene-expression-signatures-in-glioblastomas
#16
Anan Yin, Amandine Etcheverry, Yalong He, Marc Aubry, Jill Barnholtz-Sloan, Luhua Zhang, Xinggang Mao, Weijun Chen, Bolin Liu, Wei Zhang, Jean Mosser, Xiang Zhang
Molecular and clinical heterogeneity critically hinders better treatment outcome for glioblastomas (GBMs); integrative analysis of genomic and epigenomic data may provide useful information for improving personalized medicine. By applying training-validation approach, we identified a novel hypomethylation signature comprising of three CpGs at non-CpG island (CGI) open sea regions for GBMs. The hypomethylation signature consistently predicted poor prognosis of GBMs in a series of discovery and validation datasets...
October 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/29147864/impact-of-who-2016-update-of-brain-tumor-classification-molecular-markers-and-clinical-outcomes-in-pleomorphic-xanthoastrocytoma
#17
Raees Tonse, Tejpal Gupta, Sridhar Epari, Jayant Goda Shastri, Mamta Gurav, Nazia Bano, Rakesh Jalali
We present outcomes of pleomorphic xanthoastrocytoma (PXA) and correlate the impact of clinical, pathologic and molecular markers. Between 2006 and 2016, 37 patients with histologically verified PXA form the study cohort. All underwent maximal safe resection; those who had good resection and young age were observed. Adjuvant radiotherapy was given in patients with some atypical features such as high MIB-1 index (> 5%), residual disease or at recurrence. Patients with anaplastic PXA were administered adjuvant radiotherapy and systemic therapy...
November 16, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29146074/corrigendum-to-diagnostic-utility-of-idh1-2-mutations-to-distinguish-dedifferentiated-chondrosarcoma-from-undifferentiated-pleomorphic-sarcoma-of-bone-hum-pathol-2017-65-239-46
#18
Shaoxiong Chen, Karen Fritchie, Shi Wei, Naser Ali, Kendra Curless, Tiansheng Shen, Anna T Brini, Farida Latif, Vaiyapuri Sumathi, Gene P Siegal, Liang Cheng
No abstract text is available yet for this article.
November 13, 2017: Human Pathology
https://www.readbyqxmd.com/read/29141672/a-novel-git2-braf-fusion-in-pilocytic-astrocytoma
#19
Jeffrey Helgager, Hart G Lidov, Navin R Mahadevan, Mark W Kieran, Keith L Ligon, Sanda Alexandrescu
BACKGROUND: KIAA1549-BRAF fusion is the most common genetic event in pilocytic astrocytoma (PA), and leads to activation of the mitogen activated protein kinase (MAPK) signaling pathway. Fusions of BRAF with other partner genes, as well as other genetic alterations not involving BRAF but also leading to MAPK pathway activation have been described rarely. CASE PRESENTATION: We present a new fusion partner in the low-grade glioma of a 10-year-old male, who presented with headaches and recent episodes of seizures...
November 15, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29138945/glioblastoma-in-neurofibromatosis-1-patients-without-idh1-braf-v600e-and-tert-promoter-mutations
#20
Ichiyo Shibahara, Yukihiko Sonoda, Hiroyoshi Suzuki, Akifumi Mayama, Masayuki Kanamori, Ryuta Saito, Yasuhiro Suzuki, Shoji Mashiyama, Hiroshi Uenohara, Mika Watanabe, Toshihiro Kumabe, Teiji Tominaga
Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent NF1 gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed well-circumscribed tumors from surrounding brain. Pathological analysis presented a paucity of processes with an eosinophilic cytoplasm, bizarre nuclei, xanthomatous-like appearance, multinucleated giant cells, and histiocytoid appearance...
November 14, 2017: Brain Tumor Pathology
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