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https://www.readbyqxmd.com/read/29777252/noninvasively-evaluating-the-grading-and-idh1-mutation-status-of-diffuse-gliomas-by-three-dimensional-pseudo-continuous-arterial-spin-labeling-and-diffusion-weighted-imaging
#1
Tingting Liu, Guang Cheng, Xiaowei Kang, Yibin Xi, Yuanqiang Zhu, Kai Wang, Chao Sun, Jing Ye, Ping Li, Hong Yin
PURPOSE: To noninvasively evaluate the value of three-dimensional pseudo-continuous arterial spin labeling (3D pCASL) and diffusion-weighted imaging (DWI) in diffuse gliomas grading as well as isocitrate dehydrogenase (IDH) 1 mutation status. METHODS: Fifty-six patients with pathologically confirmed diffuse gliomas with preoperative 3D pCASL and DWI were enrolled in this study. The Student's t test and Mann-Whitney U test were used to evaluate differences in parameters of DWI and 3D pCASL between low and high grade as well as between mutant and wild-type IDH1 diffuse gliomas; receiver operator characteristic (ROC) analysis was used to assess the diagnostic performance...
May 18, 2018: Neuroradiology
https://www.readbyqxmd.com/read/29776636/molecular-diagnostics-in-the-neoplasms-of-the-pancreas-liver-gallbladder-and-extrahepatic-biliary-tract-2018-update
#2
REVIEW
Lei Zhang, Martin H Bluth, Amarpreet Bhalla
Pancreatic neoplasms, including ductal adenocarcinoma, solid pseudopapillary neoplasm, pancreatic endocrine neoplasms, acinar cell carcinoma, and pancreatoblastoma, are associated with different genetic abnormalities. Hepatic adenomas with beta-catenin exon 3 mutation are associated with a high risk of malignancy. Hepatic adenoma with arginosuccinate synthetase 1 expression or sonic hedgehog mutations are associated with a risk of bleeding. Hepatocellular carcinoma and choangiocarcinoma display heterogeneity at both morphologic and molecular levels Cholangiocellular carcinoma is most commonly associated with IDH 1/2 mutations...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29775073/diffuse-gliomas-for-nonneuropathologists-the-new-integrated-molecular-diagnostics
#3
Sunhee C Lee
Diffuse gliomas comprise the bulk of "brain cancer" in adults. The recent update to the 4th edition of the World Health Organization's classification of tumors of the central nervous system reflects an unprecedented change in the landscape of the diagnosis and management of diffuse gliomas that will affect all those involved in the management and care of patients. Of the recently discovered gene alterations, mutations in the Krebs cycle enzymes isocitrate dehydrogenases (IDHs) 1 and 2 have fundamentally changed the way the gliomas are understood and classified...
May 18, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29773061/development-of-novel-therapeutics-targeting-isocitrate-dehydrogenase-mutations-in-cancer
#4
Horrick Sharma
Isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) are key metabolic enzymes that catalyze the conversion of isocitrate to α-ketoglutarate (αKG). IDH 1 and IDH2 regulate several cellular processes, including oxidative respiration, glutamine metabolism, lipogenesis, and cellular defense against oxidative damage. Mutations in IDH1 and IDH2 have recently been observed in multiple tumor types, including gliomas, acute myeloid leukemia, myelodysplastic syndromes, and chondrosarcoma. IDH1 and IDH2 mutations involve a gain in neomorphic activity that catalyze αKG conversion to (R)-2-hydroxyglutarate ((R)-2HG)...
May 17, 2018: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/29770897/machine-learning-a-useful-radiological-adjunct-in-determination-of-a-newly-diagnosed-glioma-s-grade-and-idh-status
#5
Céline De Looze, Alan Beausang, Jane Cryan, Teresa Loftus, Patrick G Buckley, Michael Farrell, Seamus Looby, Richard Reilly, Francesca Brett, Hugh Kearney
INTRODUCTION: Machine learning methods have been introduced as a computer aided diagnostic tool, with applications to glioma characterisation on MRI. Such an algorithmic approach may provide a useful adjunct for a rapid and accurate diagnosis of a glioma. The aim of this study is to devise a machine learning algorithm that may be used by radiologists in routine practice to aid diagnosis of both: WHO grade and IDH mutation status in de novo gliomas. METHODS: To evaluate the status quo, we interrogated the accuracy of neuroradiology reports in relation to WHO grade: grade II 96...
May 16, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29769206/targeting-the-idh2-pathway-in-acute-myeloid-leukemia
#6
Maria L Amaya, Daniel A Pollyea
Acute myeloid leukemia (AML) is an aggressive disease with a poor prognosis. A large percentage of patients succumb to this disease, in spite of aggressive treatments with chemotherapy. Recent advances with mutational analysis led to the discovery of isocitrate dehydrogenase (IDH) mutations in AML. IDH2 is an enzyme that catalyzes the oxidative decarboxylation of isocitrate to alpha-ketoglutarate; its mutated version leads to the accumulation of the oncometabolite (R)-2 hydroxyglutarate, which disrupts several cell processes and leads to a blockage in differentiation...
May 16, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29761369/oligodendrogliomas-in-pediatric-and-teenage-patients-only-rarely-exhibit-molecular-markers-and-patients-have-excellent-survivals
#7
Yan-Xi Li, Abudumijiti Aibaidula, Zhifeng Shi, Hong Chen, Kay Ka-Wai Li, Nellie Yuk-Fei Chung, Ryan Rui Yang, Danny Tat-Ming Chan, Wai Sang Poon, Ka Lok Ryan Lee, Ying Mao, Jinsong Wu, Aden Ka-Yin Chan, Liangfu Zhou, Ho-Keung Ng
Although oligodendrogliomas appear histologically similar in adult and pediatric patients, the latter have only been rarely studied and most of those studies did not have long follow-up. We examined 55 oligodendroglial tumors from pediatric and teenage patients for their biomarkers with formalin-fixed paraffin-embedded tissues and studied their survival status. None of the tumors harbored 1p/19q codeletion or IDH mutation. Mutations in TERTp (4%), BRAF (11%), FGFR1 (3%) and H3F3A (5%), fusions of BRAF (8%) and FGFR1 (8%) were found sparingly and almost all in a mutually exclusive manner...
May 14, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29752851/idh-mutated-astrocytomas-with-19q-loss-constitute-a-subgroup-that-confers-better-prognosis
#8
Ryohei Otani, Takeo Uzuka, Fumi Higuchi, Hadzki Matsuda, Masashi Nomura, Shota Tanaka, Akitake Mukasa, Koichi Ichimura, Phyo Kim, Keisuke Ueki
IDH-mutant gliomas are classified into astrocytic or oligodendroglial tumors by 1p/19q status in WHO 2016 classification, with the latter presenting with characteristic morphology and better prognosis in general. However, the morphological and genetic features within each category are varied, and there may be distinguishable subtypes. We analyzed 170 WHO grade II to IV gliomas resected in our institution. 1p/19q status was analyzed by microsatellite analysis, and genetic mutations were analyzed by next-generation sequencing and Sanger sequencing...
May 12, 2018: Cancer Science
https://www.readbyqxmd.com/read/29741737/genetic-and-epigenetic-features-of-rapidly-progressing-idh-mutant-astrocytomas
#9
Timothy E Richardson, Adwait Amod Sathe, Mohammed Kanchwala, Gaoxiang Jia, Amyn A Habib, Guanghua Xiao, Matija Snuderl, Chao Xing, Kimmo J Hatanpaa
IDH-mutant astrocytomas are significantly less aggressive than their IDH-wildtype counterparts. We analyzed The Cancer Genome Atlas dataset (TCGA) and identified a small group of IDH-mutant, WHO grade II-III astrocytomas (n = 14) with an unexpectedly poor prognosis characterized by a rapid progression to glioblastoma and death within 3 years of the initial diagnosis. Compared with IDH-mutant tumors with the typical, extended progression-free survival in a control group of age-similar patients, the tumors in the rapidly progressing group were characterized by a markedly increased level of overall copy number alterations ([CNA]; p = 0...
May 7, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29738972/steroids-from-ganoderma-sinense-as-new-natural-inhibitors-of-cancer-associated-mutant-idh1
#10
Mengzhu Zheng, Ruotian Tang, Yue Deng, Kaiyin Yang, Lixia Chen, Hua Li
Isocitrate dehydrogenase (IDH) is one of the key enzymes in the tricarboxylic acid cycle, and IDH mutations have been associated with many cancers, including glioblastoma, sarcoma, acute myeloid leukemia, etc. Three natural steroids 1-3 from Ganoderma sinense, a unique and rare edible-medicinal fungi in China, were found as potential IDH1 inhibitors by virtual ligand screening method. Among the three compounds, 3 showed the highest binding affinity to IDH1 with significant calculated binding free energy. Enzymatic kinetics demonstrated that 3 inhibited mutant enzyme in a noncompetitive manner...
April 30, 2018: Bioorganic Chemistry
https://www.readbyqxmd.com/read/29733378/assessing-the-predictability-of-idh-mutation-and-mgmt-methylation-status-in-glioma-patients-using-relaxation-compensated-multi-pool-cest-mri-at-7-0-tesla
#11
Daniel Paech, Johannes Windschuh, Johanna Oberhollenzer, Constantin Dreher, Felix Sahm, Jan-Eric Meissner, Steffen Goerke, Patrick Schuenke, Moritz Zaiss, Sebastian Regnery, Sebastian Bickelhaupt, Philipp Bäumer, Martin Bendszus, Wolfgang Wick, Andreas Unterberg, Peter Bachert, Mark Edward Ladd, Heinz-Peter Schlemmer, Alexander Radbruch
Background: Early identification of prognostic superior characteristics in glioma patients such as Isocitrate dehydrogenase(IDH)-mutation and O6-methylguanine-DNA-methyltransferase (MGMT) promotor methylation status is of great clinical importance. The study purpose was to investigate the non-invasive predictability of IDH-mutation status, MGMT promotor methylation, and differentiation of lower versus higher grade glioma (LGG vs. HGG) in newly-diagnosed patients employing relaxation-compensated multi-pool Chemical Exchange Saturation Transfer (CEST) magnetic resonance imaging (MRI) at 7...
May 4, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29727696/h3-k27-m-mutant-diffuse-midline-gliomas-in-different-anatomical-locations
#12
Leiming Wang, Zhuo Li, Ming Zhang, Yueshan Piao, Li Chen, Huiying Liang, Yukui Wei, Zeliang Hu, Lihong Zhao, Lianghong Teng, Dehong Lu
The histone H3 K27 M mutation has been frequently reported in the majority of diffuse midline gliomas. However, the relationship between the H3 K27 M mutation and clinical outcomes of gliomas from different anatomical locations is still not fully understood. A total of 120 patients with diffuse midline gliomas were selected for this retrospective observational study. The status of H3 K27 M, ATRX, TP53 and IDH was evaluated using immunohistochemistry and Sanger sequencing. Of the 120 cases aged from 4 to 76years (median=27years), 61 (50...
May 1, 2018: Human Pathology
https://www.readbyqxmd.com/read/29723602/non-small-cell-lung-cancers-with-isocitrate-dehydrogenase-1-or-2-idh1-2-mutations
#13
Laura N Toth, Francine B de Abreu, Laura J Tafe
Isocitrate dehydrogenase 1 and 2 (IDH1/2) are important metabolic enzymes that convert isocitrate to α-ketoglutarate. IDH1/2 mutations are associated with the development of multiple malignancies. In this study, we examine the prevalence and features of non-small cell lung cancers (NSCLC) with IDH1/2 mutations. From May 2013 - March 2017, 800 lung cancer samples were successfully sequenced for somatic mutations on the Ion Torrent PGM with the 50 gene AmpliSeq Cancer Hotspot Panel v2 on the Ion Torrent PGM (318 chip)...
April 30, 2018: Human Pathology
https://www.readbyqxmd.com/read/29721688/radiogenomics-correlation-between-mr-imaging-features-and-major-genetic-profiles-in-glioblastoma
#14
Eun Kyoung Hong, Seung Hong Choi, Dong Jae Shin, Sang Won Jo, Roh-Eul Yoo, Koung Mi Kang, Tae Jin Yun, Ji-Hoon Kim, Chul-Ho Sohn, Sung-Hye Park, Jae-Kyung Won, Tae Min Kim, Chul-Kee Park, Il Han Kim, Soon Tae Lee
OBJECTIVES: To assess the association between MR imaging features and major genomic profiles in glioblastoma. METHODS: Qualitative and quantitative imaging features such as volumetrics and histogram analysis from normalised CBV (nCBV) and ADC (nADC) were evaluated based on both T2WI and CET1WI. The imaging parameters of different genetic profile groups were compared and regression analyses were used for identifying imaging-molecular associations. Progression-free survival (PFS) was analysed by a Kaplan-Meier test and Cox proportional hazards model...
May 2, 2018: European Radiology
https://www.readbyqxmd.com/read/29700705/imaging-scoring-systems-for-preoperative-molecular-diagnoses-of-lower-grade-gliomas
#15
Tokunori Kanazawa, Hirokazu Fujiwara, Hidenori Takahashi, Yuya Nishiyama, Yuichi Hirose, Saeko Tanaka, Kazunari Yoshida, Hikaru Sasaki
Recent advance in molecular characterization of gliomas showed that patient prognosis and/or tumor chemosensitivity correlate with certain molecular signatures; however, this information is available only after tumor resection. If molecular information is available by routine radiological examinations, surgical strategy as well as overall treatment strategy could be designed preoperatively.With the aim to establish an imaging scoring system for preoperative diagnosis of molecular status in lower-grade gliomas (WHO grade 2 or 3, LrGGs), we investigated 8 imaging features available on routine CT and MRI in 45 LGGs (discovery cohort) and compared them with the status of 1p/19q codeletion, IDH mutations, and MGMT promoter methylation...
April 26, 2018: Neurosurgical Review
https://www.readbyqxmd.com/read/29696949/overview-on-current-treatment-standards-in-high-grade-gliomas
#16
Alessia Pellerino, Federica Franchino, Riccardo Soffietti, Roberta Rudà
High-grade gliomas (HGGs) are the most common primary tumors of the Central Nervous System, which include anaplastic gliomas (grade III) and glioblastomas (GBM, grade IV). Surgery is the mainstay of treatment in HGGs in order to achieve a histological and molecular characterization, as well as relieve neurological symptoms and improve seizure control. Combinations of some molecular factors, such as IDH 1-2 mutations, 1p/19q codeletion and MGMT methylation status, allow to classify different subtypes of gliomas and identify patients with different outcome...
April 26, 2018: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29693015/elevated-tert-expression-in-tert-wildtype-adult-diffuse-gliomas-histological-evaluation-with-a-novel-tert-specific-antibody
#17
Kenta Masui, Takashi Komori, Yukinari Kato, Kenkichi Masutomi, Koichi Ichimura, Satoshi Ogasawara, Mika K Kaneko, Hiroharu Oki, Hiroyoshi Suzuki, Masayuki Nitta, Takashi Maruyama, Yoshihiro Muragaki, Takakazu Kawamata, Tatsuo Sawada, Noriyuki Shibata
Telomerase reverse transcriptase (TERT) is important for the biology of diffuse gliomas. TERT promoter mutations are selectively observed among 1p/19q-codeleted oligodendrogliomas and isocitrate dehydrogenase gene- (IDH-) wildtype glioblastoma (GBM). However, TERT transcripts range widely in various cancers including gliomas, and TERT protein expression has been rarely investigated thus far. It would be thus critical to examine the expression level of TERT in tumors in addition to its mutational status, and sensitive and specific methods are urgently needed to examine TERT protein expression for the assessment of TERT biology in gliomas...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29692895/metabolic-characterization-of-isocitrate-dehydrogenase-idh-mutant-and-idh-wildtype-gliomaspheres-uncovers-cell-type-specific-vulnerabilities
#18
Matthew Garrett, Jantzen Sperry, Daniel Braas, Weihong Yan, Thuc M Le, Jack Mottahedeh, Kirsten Ludwig, Ascia Eskin, Yue Qin, Rachelle Levy, Joshua J Breunig, Frank Pajonk, Thomas G Graeber, Caius G Radu, Heather Christofk, Robert M Prins, Albert Lai, Linda M Liau, Giovanni Coppola, Harley I Kornblum
Background: There is considerable interest in defining the metabolic abnormalities of IDH mutant tumors to exploit for therapy. While most studies have attempted to discern function by using cell lines transduced with exogenous IDH mutant enzyme, in this study, we perform unbiased metabolomics to discover metabolic differences between a cohort of patient-derived IDH1 mutant and IDH wildtype gliomaspheres. Methods: Using both our own microarray and the TCGA datasets, we performed KEGG analysis to define pathways differentially enriched in IDH1 mutant and IDH wildtype cells and tumors...
2018: Cancer & Metabolism
https://www.readbyqxmd.com/read/29683816/immunohistochemical-detection-and-molecular-characterization-of-idh-mutant-sinonasal-undifferentiated-carcinomas
#19
Jeffrey K Mito, Justin A Bishop, Peter M Sadow, Edward B Stelow, William C Faquin, Stacey E Mills, Jeffrey F Krane, Christopher A French, Christopher D M Fletcher, Jason L Hornick, Lynette M Sholl, Vickie Y Jo
Recent studies have identified recurrent isocitrate dehydrogenase 2 (IDH2) mutations in a subset of sinonasal undifferentiated carcinomas (SNUCs); however, the true frequency of IDH mutations in SNUC is unknown. We evaluated the utility of mutation-specific IDH1/2 immunohistochemistry (IHC) in a large multi-institutional cohort of SNUC and morphologic mimics. IHC using a multispecific antibody for IDH1/2 (R132/R172) mutant protein was performed on 193 sinonasal tumors including: 53 SNUCs, 8 poorly differentiated carcinomas (PDCARs) and 132 histologic mimics...
April 20, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29679127/-basic-principles-of-diagnosis-and-treatment-of-gliomas
#20
REVIEW
H-G Wirsching, T Weiss, P Roth, M Weller
BACKGROUND: Traditionally, gliomas were classified based on histopathological features alone. The revised World Health Organization (WHO) classification of tumors of the central nervous system from 2016 integrated molecular features into the histopathological diagnosis. OBJECTIVE: To summarize key aspects of the WHO classification from 2016 and implications for the clinical management of glioma patients. An overview of novel treatment approaches is also provided...
April 20, 2018: Der Nervenarzt
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