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https://www.readbyqxmd.com/read/28922847/germline-msh6-mutation-in-a-patient-with-two-independent-primary-glioblastomas
#1
Linda M Forsström, Koichiro Sumi, Markus J Mäkinen, Ji Eun Oh, Riitta Herva, Paul Kleihues, Hiroko Ohgaki, Lauri A Aaltonen
We previously reported a patient who had developed 2 glioblastomas at the age of 54 and 64 years, respectively. The first glioblastoma in the right frontal lobe was treated with surgery and radiotherapy. Ten years later, the patient developed a second, left frontal glioblastoma. Discordant patterns of TP53 and PTEN mutations suggested that the second tumor was not a recurrence but an independently developed glioblastoma. To determine the molecular mechanism underlying this enigmatic case with 10-year survival, we performed whole-exome sequencing...
October 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28915660/mass-spectrometry-based-assay-for-the-molecular-diagnosis-of-glioma-concomitant-detection-of-chromosome-1p-19q-codeletion-and-idh1-idh2-and-tert-mutation-status
#2
Chiara Pesenti, Leda Paganini, Laura Fontana, Emanuela Veniani, Letterio Runza, Stefano Ferrero, Silvano Bosari, Maura Menghi, Giovanni Marfia, Manuela Caroli, Rosamaria Silipigni, Silvana Guerneri, Silvia Tabano, Monica Miozzo
The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma histological subtypes. Mutations in the TERT promoter may also be useful for glioma diagnosis and prognosis. The integration of molecular markers into routine diagnosis requires their rapid and reliable assessment. We propose a MassARRAY (MS)-based test that can identify 1p/19q codeletion using quantitative SNP genotyping and, simultaneously, characterize hotspot mutations in the IDH1, IDH2, and TERT genes in tumor DNA...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28901965/anaplastic-gliomas-in-adults-an-update
#3
Cristina Izquierdo, Bastien Joubert, François Ducray
PURPOSE OF REVIEW: The current review summarizes recent advances on the oncogenesis, classification and treatment of adult anaplastic gliomas. RECENT FINDINGS: According to the 2016 WHO classification, three main molecular subgroups of adult diffuse anaplastic gliomas can be distinguished based on the 1p/19q codeletion and isocitrate dehydrogenase (IDH) mutation status. In the future, this classification may be further refined based on the telomerase reverse transcriptase promoter and alpha thalassemia/mental retardation syndrome X-linked mutation status, gene expression, DNA methylation and genomic profiling...
September 8, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28889246/the-preliminary-radiogenomics-association-between-mr-perfusion-imaging-parameters-and-genomic-biomarkers-and-their-predictive-performance-of-overall-survival-in-patients-with-glioblastoma
#4
Xiang Liu, Rajiv Mangla, Wei Tian, Xing Qiu, Dongmei Li, Kevin A Walter, Sven Ekholm, Mahlon D Johnson
The radiogenomics association of neovascularization is important for overall survival (OS) in glioblastoma patients and remains unclear. The purpose of this study is to assess the association between MR perfusion imaging derived parameters and genomic biomarkers of glioblastoma, and to evaluate their prognostic value. This retrospective study enrolled 41 patients with newly diagnosed glioblastoma. The mean and maximal relative cerebral blood volume (rCBV) ratio (rCBVmean and rCBVmax), derived from MR perfusion weighted imaging, of the enhancing tumor, as well as maximal rCBV ratio of peri-enhancing tumor area (rCBVperi-tumor) were measured...
September 9, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28884377/idh-mutation-status-trumps-the-pignatti-risk-score-as-a-prognostic-marker-in-low-grade-gliomas
#5
Olatz Etxaniz, Cristina Carrato, Itziar de Aguirre, Cristina Queralt, Ana Muñoz, José L Ramirez, Rafael Rosell, Salvador Villà, Rocio Diaz, Ana Estival, Pilar Teixidor, Alberto Indacochea, Sara Ahjal, Laia Vilà, Carme Balañá
Management of low-grade gliomas (LGG) is based on clinical and radiologic features, including the Pignatti prognostic scoring system, which classifies patients as low- or high-risk. To determine whether molecular data can offer advantages over these features, we have examined the prognostic impact of several molecular alterations in LGG. In a cohort of 58 patients with LGG, we have retrospectively analyzed clinical and molecular characteristics, including the Pignatti criteria, IDH mutations, TP53 mutations, the 1p/19q deletion, and MGMT methylation, and correlated our findings with progression-free survival (PFS) and overall survival (OS)...
September 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28874004/glioma-groups-classified-by-idh-and-tert-promoter-mutations-remain-stable-among-primary-and-recurrent-gliomas
#6
Zhenyu Zhang, Aden Ka-Yin Chan, Xiaojie Ding, Yanxi Li, Ruiqi Zhang, Lingchao Chen, Ying Liu, Yin Wang, Ji Xiong, Ho-Keung Ng, Yu Yao, Liangfu Zhou
No abstract text is available yet for this article.
July 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28873367/idh1-mutation-is-an-independent-inferior-prognostic-indicator-for-patients-with-myelodysplastic-syndromes
#7
Na Wang, Fei Wang, Ningning Shan, Xiaohui Sui, Hongzhi Xu
BACKGROUND: Genomic sequencing technologies have identified isocitrate dehydrogenase (IDH) mutations in haematological malignancies. The prognostic implications of somatic IDH mutation (mIDH) in myelodysplastic syndromes (MDS) remain controversial. METHODS: Mutations in IDH1 and IDH2 were detected using genomic sequencing technologies in 97 patients with MDS. RESULTS: Seven (7.2%) mutations were identified: 3 in IDH1 (all R132C) and 4 in IDH2 (3 R140Q and 1 R140L)...
September 6, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28866063/spinal-cord-astrocytoma-with-isocitrate-dehydrogenase-1-gene-mutation-a-case-report
#8
Keisuke Takai, Shota Tanaka, Takashi Sota, Akitake Mukasa, Takashi Komori, Makoto Taniguchi
BACKGROUND: In 2016, the World Health Organization (WHO) updated its classification of tumors, adding their genetic profiles to the conventional histopathological typing. CASE DESCRIPTION: The authors present herein the first case of a 44-year-old female with IDH-mutant WHO grade II diffuse spinal astrocytoma diagnosed on the basis of both histopathological and genetic findings. CONCLUSIONS: The present case underscores the significant role of a molecular genetic analysis in the differential diagnosis of intramedullary spinal gliomas...
August 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28851427/the-frequency-and-prognostic-effect-of-tert-promoter-mutation-in-diffuse-gliomas
#9
Yujin Lee, Jaemoon Koh, Seong-Ik Kim, Jae Kyung Won, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park
Mutations in the telomerase reverse transcriptase gene promoter (TERTp) are common in glioblastomas (GBMs) and oligodendrogliomas (ODGs), and therefore, have a key role in tumorigenesis and may be of prognostic value. However, the extent of their prognostic importance in various gliomas is controversial. We studied 168 patients separated into five groups: Group 1: 65 patients with ODG carrying an IDH1 or IDH2 mutation (IDH-mutant) and 1p/19q-codeletion, Group 2: 23 patients with anaplastic astrocytoma (AA), IDH-mutant, Group 3: 13 patients with GBM, IDH-mutant, Group 4: 15 patients with AA, IDH-wildtype (WT), and Group 5: 52 patients with GBM, IDH-WT...
August 29, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28844952/targeting-cholangiocarcinoma
#10
REVIEW
Joachim C Mertens, Sumera Rizvi, Gregory J Gores
Cholangiocarcinoma (CCA) represents a diverse group of epithelial cancers associated with the biliary tract, and can best be stratified anatomically into intrahepatic (iCCA), perihilar (pCCA) and distal (dCCA) subsets. Molecular profiling has identified genetic aberrations associated with these anatomic subsets. For example, IDH catalytic site mutations and constitutively active FGFR2 fusion genes are predominantly identified in iCCA, whereas KRAS mutations and PRKACB fusions genes are identified in pCCA and dCCA...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28840584/metabolic-enzymes-in-sarcomagenesis-progress-toward-biology-and-therapy
#11
Luyuan Li, Josiane E Eid, Ana C Paz, Jonathan C Trent
Cellular metabolism reprogramming is an emerging hallmark of cancer, which provides tumor cells with not only necessary energy but also crucial materials to support growth. Exploiting the unique features of cancer metabolism is promising in cancer therapies. The growing interest in this field has led to numerous inhibitors being developed against key molecules in metabolic pathways, though most of them are still in preclinical development. Potential targeted cancer cell metabolic pathways under investigation include glycolysis, tricarboxylic acid (TCA) cycle, oxidative phosphorylation (OXPHOS), glutaminolysis, pentose phosphate pathway (PPP), lipid synthesis, amino acid and nucleotide metabolism...
August 24, 2017: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
https://www.readbyqxmd.com/read/28836106/the-impact-of-adjuvant-therapy-for-patients-with-high-risk-diffuse-who-grade-ii-glioma
#12
Ryan S Youland, Cole R Kreofsky, David A Schomas, Paul D Brown, Jan C Buckner, Nadia N Laack
Despite recent randomized, prospective evidence supporting use of RT and chemotherapy (CRT) for high-risk low-grade gliomas (LGG), many patients have historically received RT alone, chemotherapy alone or observation postoperatively. The purpose of this study is to evaluate outcomes for historical treatments in comparison to CRT for high-risk diffuse WHO grade II glioma patients. Records from 309 adults with WHO grade II glioma (1997-2008) eligible for RTOG 9802 (incomplete resection/biopsy or age ≥40 years) were retrospectively reviewed...
August 23, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28823044/diagnostic-implications-of-tert-promoter-mutation-status-in-diffuse-gliomas-in-a-routine-clinical-setting
#13
Ekkehard Hewer, Nadine Prebil, Sabina Berezowska, Marielena Gutt-Will, Philippe Schucht, Matthias S Dettmer, Erik Vassella
IDH (isocitrate dehydrogenase) gene mutations are present in most diffuse low-grade gliomas and define the clinico-pathological core of the respective morphologically defined entities. Conversely, according to the 2016 WHO classification, the majority of glioblastomas belong to the IDH-wildtype category, which is defined by exclusion. TERT (telomerase reverse transcriptase gene) promoter mutations have been suggested as a molecular marker for primary glioblastomas. We analyzed molecular, histopathological, and clinical profiles of a series of 110 consecutive diffuse gliomas (WHO grades II-IV) diagnosed at our institution, in which TERT promoter mutation analysis had been performed as part of diagnostic work-up...
August 19, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28815663/who-2016-classification-of-gliomas
#14
Pieter Wesseling, David Capper
Gliomas are the most frequent intrinsic tumours of the central nervous system and encompass two principle subgroups: diffuse gliomas and gliomas showing a more circumscribed growth pattern ('non-diffuse gliomas'). In the revised 4th edition of the WHO Classification of CNS tumors published in 2016, classification of especially diffuse gliomas has fundamentally changed: for the first time a large subset of these tumours is now defined based on presence/absence of IDH mutation and 1p/19q codeletion. Following this approach, the diagnosis of (anaplastic) oligoastrocytoma can be expected to largely disappear...
August 16, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28812310/gliosarcoma-arising-from-oligodendroglioma-idh-mutant-and-1p-19q-codeleted
#15
Takayuki Yasuda, Masayuki Nitta, Takashi Komori, Tatsuya Kobayashi, Kenta Masui, Takashi Maruyama, Tatsuo Sawada, Yoshihiro Muragaki, Takakazu Kawamata
Herein, we present a rare case of gliosarcoma arising from oligodendroglioma, isocitrate dehydrogenase (IDH) mutant and 1p/19q codeleted. A 36-year-old man presented with a non-enhanced calcified abnormal lesion on the right frontal lobe. The patient underwent subtotal surgical resection, PAV chemotherapy (procarbazine, nimustine (ACNU) and vincristine), and fractionated radiotherapy with 50 Gy. The pathological diagnosis was oligodendroglioma, IDH mutant and 1p/19q codeleted, World Health Organization 2016 grade II...
August 15, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28801347/a-simple-algorithmic-approach-using-histology-and-immunohistochemistry-for-the-current-classification-of-adult-diffuse-glioma-in-a-resource-limited-set-up
#16
R T Rajeswarie, Shilpa Rao, Bevinahalli N Nandeesh, T Chickabasaviah Yasha, Vani Santosh
AIMS: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up. METHODS: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX)...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28797501/integrating-morphology-and-genetics-in-the-diagnosis-of-cartilage-tumors
#17
REVIEW
Carlos E de Andrea, Mikel San-Julian, Judith V M G Bovée
Cartilage-forming tumors of bone are a heterogeneous group of tumors with different molecular mechanisms involved. Enchondromas are benign hyaline cartilage-forming tumors of medullary bone caused by mutations in IDH1 or IDH2. Osteochondromas are benign cartilage-capped bony projections at the surface of bone. IDH mutations are also found in dedifferentiated and periosteal chondrosarcoma. A recurrent HEY1-NCOA2 fusion characterizes mesenchymal chondrosarcoma. Molecular changes are increasingly used to improve diagnostic accuracy in chondrosarcomas...
September 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/28782849/diffuse-glioma-rare-homozygous-idh-point-mutation-is-it-an-oncogenetic-mechanism
#18
Angad Singh, Mamta Gurav, Sandeep Dhanavade, Omshree Shetty, Sridhar Epari
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
August 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28768910/sexual-dimorphism-in-glioma-glycolysis-underlies-sex-differences-in-survival
#19
Joseph E Ippolito, Aldrin Kay-Yuen Yim, Jingqin Luo, Prakash Chinnaiyan, Joshua B Rubin
The molecular bases for sex differences in cancer remain undefined and how to incorporate them into risk stratification remains undetermined. Given sex differences in metabolism and the inverse correlation between fluorodeoxyglucose (FDG) uptake and survival, we hypothesized that glycolytic phenotyping would improve glioma subtyping. Using retrospectively acquired lower-grade glioma (LGG) transcriptome data from The Cancer Genome Atlas (TCGA), we discovered male-specific decreased survival resulting from glycolytic gene overexpression...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28768481/piil-visualization-of-dna-methylation-and-gene-expression-data-in-gene-pathways
#20
Behrooz Torabi Moghadam, Neda Zamani, Jan Komorowski, Manfred Grabherr
BACKGROUND: DNA methylation is a major mechanism involved in the epigenetic state of a cell. It has been observed that the methylation status of certain CpG sites close to or within a gene can directly affect its expression, either by silencing or, in some cases, up-regulating transcription. However, a vertebrate genome contains millions of CpG sites, all of which are potential targets for methylation, and the specific effects of most sites have not been characterized to date. To study the complex interplay between methylation status, cellular programs, and the resulting phenotypes, we present PiiL, an interactive gene expression pathway browser, facilitating analyses through an integrated view of methylation and expression on multiple levels...
August 2, 2017: BMC Genomics
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