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L Eric Huang, Adam L Cohen, Howard Colman, Randy L Jensen, Daniel W Fults, William T Couldwell
Mutations of the isocitrate dehydrogenase (IDH) 1 and 2 genes occur in ~80% of lower-grade (WHO grade II and grade III) gliomas. Mutant IDH produces (R)-2-hydroxyglutarate, which induces DNA hypermethylation and presumably drives tumorigenesis. Interestingly, IDH mutations are associated with improved survival in glioma patients, but the underlying mechanism for the difference in survival remains unclear. Through comparative analyses of 286 cases of IDH-wildtype and IDH-mutant lower-grade glioma from a TCGA data set, we report that IDH-mutant gliomas have increased expression of tumor-suppressor genes (NF1, PTEN, and PIK3R1) and decreased expression of oncogenes(AKT2, ARAF, ERBB2, FGFR3, and PDGFRB) and glioma progression genes (FOXM1, IGFBP2, and WWTR1) compared with IDH-wildtype gliomas...
November 12, 2016: Oncotarget
Stephen J Price, Kieren Allinson, Hongxiang Liu, Natalie R Boonzaier, Jiun-Lin Yan, Victoria C Lupson, Timothy J Larkin
Purpose To explore the diffusion-tensor (DT) imaging-defined invasive phenotypes of both isocitrate dehydrogenase (IDH-1)-mutated and IDH-1 wild-type glioblastomas. Materials and Methods Seventy patients with glioblastoma were prospectively recruited and imaged preoperatively. All patients provided signed consent, and the local research ethics committee approved the study. Patients underwent surgical resection, and tumor samples underwent immunohistochemistry for IDH-1 R132H mutations. DT imaging data were coregistered to the anatomic magnetic resonance study and reconstructed to provide the anisotropic and isotropic components of the DT...
November 16, 2016: Radiology
Shahdabul Faraz, Susan Pannullo, Marc Rosenblum, Andrew Smith, A Gabriella Wernicke
Glioblastoma is not only the most common primary brain tumor, but also the most aggressive. Currently, the most effective treatment of surgery, chemotherapy and radiation therapy allows for a modest median survival of 15 months. Here, we report a case of a 57-year-old male with histologically confirmed glioblastoma with unfavorable prognostic characteristics (poor performance status and persistent neurological symptoms after surgery), whose expected 5-year survival is 0%. Further genetic analysis offered a mixed prognostic picture with positive methylation of 0-6-methylguinine-DNA (deoxyribonucleic acid) methyltransferase (MGMT; favorable prognosis) and wild-type isocitrate dehydrogenase 1 (IDH-1; unfavorable prognosis)...
November 2016: Therapeutic Advances in Medical Oncology
Rachel Grossman, Nir Shimony, Dror Shir, Tal Gonen, Razi Sitt, Tali Jonas Kimchi, Carmit Ben Harosh, Zvi Ram
BACKGROUND: The extent of tumor resection (EOTR) calculated by enhanced T1 changes in glioblastomas has been previously reported to predict survival. However, fluid-attenuated inversion recovery (FLAIR) volume may better represent tumor burden. In this study, we report the first assessment of the dynamics of FLAIR volume changes over time as a predictive variable for post-resection overall survival (OS). METHODS: Contemporary data from 103 consecutive patients with complete imaging and clinical data who underwent resection of newly diagnosed glioblastoma followed by the Stupp protocol between 2010 and 2013 were analyzed...
October 20, 2016: Annals of Surgical Oncology
Wen Cheng, Xiufang Ren, Chuanbao Zhang, Jinquan Cai, Sheng Han, Anhua Wu
Isocitrate dehydrogenase (IDH)1 mutation is one of the most important genetic aberrations in glioma. Even several genetic events have refined its prognostic value, the genome-wide expression alteration has not been systematically profiled. In this work, RNA-seq expression data from 310 patients in the Chinese Glioma Genome Atlas database were included as training set, while another 297 patients with microarray data were used as internal validation set. An independent cohort of GSE16011 (n = 205) constituted an external validation set...
September 30, 2016: Molecular Neurobiology
Jung-Soo Pyo, Nae Yu Kim, Roy Hyun Jai Kim, Guhyun Kang
The study investigated isocitrate dehydrogenase (IDH) 1 immunohistochemistry (IHC) positive rate and concordance rate between IDH1 IHC and molecular test in glioblastoma. The current study included 1360 glioblastoma cases from sixteen eligible studies. Meta-analysis, including subgroup analysis by antibody clones and cut-off values, for IDH1 IHC positive rate was conducted. In addition, we performed a concordance analysis and diagnostic test accuracy review between IDH1 IHC and molecular tests. The estimated rates of IDH1 IHC were 0...
October 2016: Brain Tumor Pathology
N V Lobanova, L V Shishkina, M V Ryzhova, G L Kobyakov, R V Sycheva, S A Burov, A V Luk'yanov, Zh R Omarova
UNLABELLED: Glioblastoma is the most common primary malignant glial tumor of the brain in adult patients. AIM: to define the prognostic value of isocitrate dehydrogenase-1 (IDH-1) mutation and methylguanine-DNA methyltransferase (MGMT) methylation status in patients with glioblastoma (GB) and to analyze the impact of clinical data (gender, age, and tumor site), histological variants of the tumor structure, and time to development of recurrences on the course of the disease...
July 2016: Arkhiv Patologii
Akimasa Hayashi, Kento Misumi, Junji Shibahara, Norihiro Kokudo, Yukinari Kato, Masashi Fukayama
Immunohistochemical analysis using specific antibodies is a useful and convenient method to detect proteins altered by somatic mutations. We previously generated the rat monoclonal antibody MsMab-2, which recognizes isocitrate dehydrogenase (IDH)1 R132L and IDH2 R172M. In the present study, we used an immunohistochemical method to examine MsMab-2 immunoreactivity in 95 cases of intrahepatic cholangiocarcinoma, including five IDH1 R132L and one IDH2 R172M mutant cases confirmed by direct sequencing. Tissue microarray section slides of all IDH1/2-mutant and wild-type cases, as well as whole section slides of IDH1 R132L and IDH2 R172M cases were immunostained using an autostainer...
October 2016: Pathology International
Walid-Sabri Hamadou, Violaine Bourdon, Sébastien Létard, Fabienne Brenet, Sofien Laarif, Sawsen Besbes, Angelo Paci, Muriel David, Virginie Penard-Lacronique, Yosra Ben Youssef, Mohamed-Adnène Laatiri, François Eisinger, Véronique Mari, Paul Gesta, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Testsuro Noguchi, Abderrahim Khélif, Chaker Ben Salem, Patrice Dubreuil, Hagay Sobol, Zohra Soua
Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.We report one IDH1 variant: c...
September 3, 2016: Annals of Hematology
Christopher P Millward, Andrew R Brodbelt, Brian Haylock, Rasheed Zakaria, Atik Baborie, Daniel Crooks, David Husband, Aditya Shenoy, Helen Wong, Michael D Jenkinson
BACKGROUND: Increasingly, biomarkers have been identified that correlate with improved overall and progression-free survival (OS and PFS) in glioblastoma, including MGMT methylation status and mutations in the IDH1 gene. In this study, we investigated the clinical and biological factors associated with long-term survival in glioblastoma patients treated with chemoradiotherapy. METHOD: Demographic and clinical data were collected for all patients with glioblastoma diagnosed between May 2004 and September 2007, treated with chemoradiotherapy and with associated tissue samples available for biomarker analysis...
October 2016: Acta Neurochirurgica
Bin Liu, Yoshiki Arakawa, Daiki Murata, Yohei Mineharu, Ryuta Yokogawa, Masahiro Tanji, Ko-Ichi Fujimoto, Nobuyuki Fukui, Yukinori Terada, Susumu Miyamoto
OBJECTIVE: Cerebellar gangliogliomas show different image findings and clinical behaviors from the supratentorial; however, their molecular basis and optimal managements remain to be elucidated. We report 3 children with cerebellar ganglioglioma and long-term survival, focusing on clinicopathological and radiological findings and genetic analyses. PATIENTS AND METHODS: We retrospectively analyzed 3 children with cerebellar ganglioglioma treated in our institute between 2000 and 2010...
October 2016: World Neurosurgery
Gui-Yang Jiang, Juan-Han Yu, Xiao-Yue Zhang, Xing-Ling Qi, Yu-Shu Sun
Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytic neoplasm that usually arises in children and young adults. Typically, lesions of PXA are superficially located in the cerebral hemispheres. Herein, we report two extremely rare patients with PXA arising from suprasellar regions. One of the patients is a 29-year-old man admitted to our hospital with a history of progressive headache for 1month. The patient's brain MRI revealed a large tumor arising from the suprasellar cistern of the third ventricle. The second patient, a 52-year-old woman, presented with progressive dizziness and visual disturbance that had developed over the course of 1year...
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Yuan Yang, Qing Mao, Xiang Wang, Yanhui Liu, Yunhe Mao, Qiao Zhou, Jiewen Luo
Seizure is a common presenting symptom of glioma, and many biomarkers have been suggested to be associated with preoperative seizure; however, the relationships between IDH (isocitrate dehydrogenase) mutations and glioma-related epilepsy only recently been studied. The authors aimed to examine the correlations between IDH mutations in glioma patients with preoperative seizures and tumor location. A series of 170 glioma samples were analyzed for IDH1 R132H mutations (amino acid change from arginine to histidine at codon 132) with immunohistochemistry (IHC) staining and for IDH mutations with direct DNA sequencing when the IHC results were negative...
September 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Tomohiro Kawaguchi, Yukihiko Sonoda, Ichiyo Shibahara, Ryuta Saito, Masayuki Kanamori, Toshihiro Kumabe, Teiji Tominaga
The prognosis of patients with WHO grade III gliomas is highly dependent on their genomic status such as the isocitrate dehydrogenase (IDH) 1/2 mutation and1p/19q co-deletion. However, difficulties have been associated with determining which tumors have certain genomic profiles by preoperative radiographical modalities, and the role of surgical resection in achieving better outcomes remains unclear. This retrospective study included 124 consecutive patients with newly diagnosed grade III gliomas. The genomic status of IDH1/2 and 1p/19q was analyzed in these patients...
September 2016: Journal of Neuro-oncology
WenLi Tan, Ji Xiong, WeiYuan Huang, JinSong Wu, SongHua Zhan, DaoYing Geng
PURPOSE: To investigate the value of dynamic susceptibility contrast (DSC) magnetic resonance imaging (MRI) in the noninvasive evaluation of isocitrate dehydrogenase (IDH) 1 gene status in astrocytoma. MATERIALS AND METHODS: The preoperative DSC MRI data of 91 lesions with pathologically confirmed astrocytoma were retrospectively analyzed. MR examination was performed on a 3T MRI scanner. The normalized maximum ratios of relative cerebral blood volume (rCBV ratio) of tumor parenchyma were measured...
July 1, 2016: Journal of Magnetic Resonance Imaging: JMRI
D Adamek, G P Siwek, A A Chrobak, I Herman-Sucharska, S Kwiatkowski, R Morga, E Radwańska, B Urbanowicz
Angiocentric glioma (AG) is a newly-classified, very rare, WHO grade I central nervous system (CNS) lesion, occurring usually in children and young adults. Only 52 patients with AG have been reported so far, making it one of the rarest neuropathological entities. Hereby we present two new cases of AG in young subjects with detailed neuropathological investigations and a neuroradiological picture along with a brief summary of all already published literature reports of this tumor. Histopathological examination of the resected tissue from both cases revealed similar changes characteristic of AG...
2016: Folia Neuropathologica
Olivera Casar-Borota, Kristin Astrid Berland Øystese, Magnus Sundström, Linea Melchior, Vera Popovic
PURPOSE: Inactivating mutations of isocitrate dehydrogenase (IDH) 1 and 2, mitochondrial enzymes participating in the Krebs tricarboxylic acid cycle play a role in the tumorigenesis of gliomas and also less frequently in acute myeloid leukemia and other malignancies. Inhibitors of mutant IDH1 and IDH2 may potentially be effective in the treatment of the IDH mutation driven tumors. Mutations in the succinate dehydrogenase, the other enzyme complex participating in the Krebs cycle and electron transfer of oxidative phosphorylation occur in the paragangliomas, gastrointestinal stromal tumors, and occasionally in the pituitary adenomas...
August 2016: Pituitary
Satoshi Inoue, François Lemonnier, Tak W Mak
Mutations of the epigenetic enzymes isocitrate dehydrogenase (IDH) 1 and 2, and the methylcytosine dioxygenase 'ten-eleven translocation 2' (TET2), are common in human myeloid malignancies and drivers of these disorders but the underlying mechanisms remain obscure. This review examines mutant IDH1/2 and TET2 enzymes in the context of responses to DNA damage and their potential involvement in age-related genomic instability. The clinical relevance of these findings and their potential application in novel therapeutic strategies is also discussed...
June 2016: International Journal of Hematology
Shingo Takano, Eiichi Ishikawa, Noriaki Sakamoto, Masahide Matsuda, Hiroyoshi Akutsu, Masayuki Noguchi, Yukinari Kato, Tetsuya Yamamoto, Akira Matsumura
The molecular subgrouping of diffuse gliomas was recently found to stratify patients into prognostically distinct groups better than histological classification. Among several molecular parameters, the key molecules for the subtype diagnosis of diffuse gliomas are IDH mutation, 1p/19q co-deletion, and ATRX mutation; 1p/19q co-deletion is undetectable by immunohistochemistry, but is mutually exclusive with ATRX and p53 mutation in IDH mutant gliomas. Therefore, we applied ATRX and p53 immunohistochemistry instead of 1p/19q co-deletion analysis...
April 2016: Brain Tumor Pathology
Hans-Georg Wirsching, Evanthia Galanis, Michael Weller
Glioblastoma is the most common and aggressive primary brain tumor in adults. Defining histopathologic features are necrosis and endothelial proliferation, resulting in the assignment of grade IV, the highest grade in the World Health Organization (WHO) classification of brain tumors. The classic clinical term "secondary glioblastoma" refers to a minority of glioblastomas that evolve from previously diagnosed WHO grade II or grade III gliomas. Specific point mutations of the genes encoding isocitrate dehydrogenase (IDH) 1 or 2 appear to define molecularly these tumors that are associated with younger age and more favorable outcome; the vast majority of glioblastomas are IDH wild-type...
2016: Handbook of Clinical Neurology
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