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https://www.readbyqxmd.com/read/28521409/evaluation-of-a-novel-approach-to-circulating-tumor-cell-isolation-for-cancer-gene-panel-analysis-in-patients-with-breast-cancer
#1
Soo Jeong Lee, Cham Han Lee, Sung Ho Choi, Sei Hyun Ahn, Byung Ho Son, Jong Won Lee, Jong Han Yu, Nak-Jung Kwon, Woo Chung Lee, Kap-Seok Yang, Dong Hyoung Lee, Du Yeol Han, Mi So Choi, Pyeong-Soo Park, Hyun Kyung Lee, Myoung Shin Kim, Jinseon Lee, Byung Hee Jeon
Liquid biopsy isolation of circulating tumor cells (CTCs) allows the genomic analysis of CTCs, which is useful in the determination of personalized cancer therapy. In the present study, CTCs from patients with breast cancer were enriched and successfully analyzed using cancer gene panel analysis. Blood samples from 11 patients with breast cancer were collected and CTCs enriched for using size-based filtration. The enriched CTCs were analyzed using immunofluorescence staining with antibodies directed against epithelial cell adhesion molecule (EpCAM) and cluster of differentiation 45...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28514606/idh2-mutation-in-a-patient-with-metastatic-colon-cancer
#2
LETTER
Bing M Zhang, Alexin Aleshin, Chieh Y Lin, James Ford, James L Zehnder, Carlos J Suarez
New England Journal of Medicine, Volume 376, Issue 20, Page 1991-1992, May 2017.
May 18, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28493366/frequent-idh2-r172-mutations-in-undifferentiated-and-poorly-differentiated-sinonasal-carcinomas
#3
Snjezana Dogan, Deborah J Chute, Bin Xu, Ryan N Ptashkin, Raghu Chandramohan, Jacklyn Casanova-Murphy, Khedoudja Nafa, Justin A Bishop, Simion I Chiosea, Edward B Stelow, Ian Ganly, David G Pfister, Nora Katabi, Ronald A Ghossein, Michael F Berger
Sinonasal undifferentiated carcinoma (SNUC) is a high-grade malignancy with limited treatment options and poor outcome. A morphologic spectrum of 47 sinonasal tumors including 17 (36.2%) SNUCs were analyzed at genomic level. Thirty carcinomas (Cohort 1) were subjected to a hybridization exon-capture next-generation sequencing assay (MSK-IMPACT(TM) ) to interrogate somatic variants in 279 or 410 cancer-related genes. Seventeen sinonasal tumors (Cohort 2) were examined only for presence of IDH1/2 exon 4 mutations by Sanger sequencing...
May 11, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28484168/current-diagnosis-and-treatment-for-acute-myeloid-leukemia
#4
Yukio Kobayashi
Genomic studies of acute myeloid leukemia have been extensively in progress. In patients with therapy-related myeloid neoplasms, peripheral blood before chemotherapy was found to have a minute clone with mutated oncogenes and tumor suppressor genes. Patients who were in complete remission showed a fraction of mutated genes. This status involves clonal hematopoiesis of indeterminate potential and demonstrates that a fraction of cells with mutated genes cannot result in leukemia. Regarding treatment, the results of two phase 3 studies have shown efficacy; midostaurin is effective in combination with the standard 7+3 therapy, and another mixed compound comprising micellized cytarabine and daunorubicin at a mixing molar ratio of 5 : 1 is more effective than the standard 7+3 therapy...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28461409/optimizing-next-generation-aml-therapy-activity-of-mutant-idh2-inhibitor-ag-221-in-preclinical-models
#5
Daniel Thomas, Ravindra Majeti
AG-221 or enasidenib is a first-in-class selective inhibitor of mutated isocitrate dehydrogenase 2 (IDH2) with early demonstrated clinical efficacy in acute myeloid leukemia as a single agent, yet with persistence of mutant IDH2 clones. Two articles in this issue of Cancer Discovery provide further insight into the biological activity of AG-221 in promoting differentiation of IDH2-mutant cells and reversing aberrant DNA methylation over time, and demonstrating preclinical activity in combination with a targeted FLT3 kinase inhibitor to eliminate IDH2-mutant clones...
May 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28431889/clinicopathologic-radiologic-and-molecular-study-of-23-combined-hepatocellular-cholangiocarcinomas-with-stem-cell-features-cholangiolocellular-type
#6
Jun Chen, Jian He, Min Deng, Hong-Yan Wu, Jiong Shi, Liang Mao, Qi Sun, Min Tang, Xiang-Shan Fan, Yu-Dong Qiu, Qin Huang
Cholangiolocellular carcinoma is a type of intrahepatic cholangiocarcinoma (ICC). According to the 2010 World Health Organization classification, this carcinoma is a combined hepatocellular-cholangiocarcinoma with stem cell features, cholangiolocellular type (CHC-SC-CLC). The aim of this study was to compare the clinicopathologic characteristics of CHC-SC-CLC and conventional ICC. Based on the gross and histologic characteristics, we divided consecutive ICC tumors into CHC-SC-CLC (n = 23), mass-forming (MF, n = 57), and non-MF (n = 22) groups...
April 18, 2017: Human Pathology
https://www.readbyqxmd.com/read/28424161/response-and-progression-on-midostaurin-in-advanced-systemic-mastocytosis-kit-d816v-and-other-molecular-markers
#7
Mohamad Jawhar, Juliana Schwaab, Nicole Naumann, Hans-Peter Horny, Karl Sotlar, Torsten Haferlach, Georgia Metzgeroth, Alice Fabarius, Peter Valent, Wolf-Karsten Hofmann, Nicholas C P Cross, Manja Meggendorfer, Andreas Reiter
In advanced systemic mastocytosis (advSM), disease evolution is often triggered by activating KIT mutations (D816V in >80% of cases) and by additional mutations, e.g. in SRSF2, ASXL1 and/or RUNX1 (S/A/R(pos), >60% of cases). In a recently reported phase-II-study, midostaurin, a multikinase/KIT inhibitor, demonstrated an overall response rate (ORR) of 60% in advSM but biomarkers predictive of response are lacking. We evaluated the impact of molecular markers (KIT D816V, S/A/R(pos)) at baseline and during follow-up in 38 midostaurin-treated advSM patients...
April 19, 2017: Blood
https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#8
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
April 17, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28415887/amelioration-of-late-onset-hepatic-steatosis-in-idh2-deficient-mice
#9
Su Jeong Lee, Hanvit Cha, Hyunjin Kim, Jin Hyup Lee, Jeen-Woo Park
Nonalcoholic fatty liver disease (NAFLD) has a high prevalence in the general population and can evolve into nonalcoholic steatohepatosis (NASH), cirrhosis, and complications such as liver failure and hepatocellular carcinoma. Recently, we reported that mitochondrial NADP(+)-dependent isocitrate dehydrogenase, encoded by the IDH2, plays an important role in the regulation of redox balance and oxidative stress levels, which are tightly associated with intermediary metabolism and energy production. In the present study, we showed that in mice targeted disruption of IDH2 attenuates age-associated hepatic steatosis by the activation of p38/cJun NH2-terminal kinase (JNK) and p53, presumably induced by the elevation of mitochondrial reactive oxygen species (ROS), which in turn resulted in the suppression of hepatic lipogenesis and inflammation via the upregulation of fibroblast growth factor 21 (FGF21) and the inhibition of NFκB signaling pathways...
May 5, 2017: Free Radical Research
https://www.readbyqxmd.com/read/28408400/epigenetic-identity-in-aml-depends-on-disruption-of-non-promoter-regulatory-elements-and-is-affected-by-antagonistic-effects-of-mutations-in-epigenetic-modifiers
#10
Jacob Glass, Duane C Hassane, Bas Wouters, Hiroyoshi Kunimoto, Roberto Avellino, Francine E Garrett-Bakelman, Olga A Guryanova, Robert Bowman, Shira Redlich, Andrew Intlekofer, Cem Meydan, Tingting Qin, Mame P Fall, Alicia Alonso, Monica L Guzman, Peter Jm Valk, Craig B Thompson, Ross L Levine, Olivier Elemento, Ruud Delwel, Ari Melnick, Maria E Figueroa
Aberrant DNA methylation of gene promoters is a hallmark of AML. To define more precisely how cytosine methylation is redistributed in AML, we performed base-pair resolution methylome sequencing in 119 patients. We find that leukemic DNA methylation patterning is tightly linked to somatic mutations and primarily driven by regulatory elements outside of promoters and by CpG shores as opposed to CpG islands. Active enhancers displayed much stronger focal differential methylation than promoters and were generally aberrantly hypomethylated except in IDH2 mutant and CEBPA silenced AMLs...
April 13, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28401022/the-clinical-significance-of-isocitrate-dehydrogenase-2-in-esophageal-squamous-cell-carcinoma
#11
Xuan Chen, Wenzhe Xu, Cong Wang, Fang Liu, Shanghui Guan, Yi Sun, Xintong Wang, Dianzheng An, Zhihua Wen, Pengxiang Chen, Yufeng Cheng
Isocitrate dehydrogenase 2 (IDH2) is the rate-limiting enzyme in the tricarboxylic acid (TCA) cycle in cellular metabolism. Growing evidence indicates that IDH2 plays a crucial role in the development of cancer. We aimed to investigate the expression level of IDH2 and its prognostic value in esophageal squamous cell cancer (ESCC). We evaluate the IDH2 expression and prognostic value in ESCC by immunohistochemical (IHC) staining, quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28389256/impact-of-molecular-genetics-on-outcome-in-myelofibrosis-patients-after-allogeneic-stem-cell-transplantation
#12
Nicolaus Kröger, Victoria Panagiota, Anita Badbaran, Tatjana Zabelina, Ioanna Triviai, Michelle Maria Araujo Cruz, Rabia Shahswar, Francis Ayuk, Marten Gehlhaar, Christine Wolschke, Robin Bollin, Carolin Walter, Martin Dugas, Lutz Wiehlmann, Ulrich Lehmann, Christian Koenecke, Anuhar Chaturvedi, Haefaa Alchalby, Michael Stadler, Matthias Eder, Max Christopeit, Gudrun Göhring, Michael Koenigsmann, Brigitte Schlegelberger, Hans-Heinrich Kreipe, Arnold Ganser, Carol Stocking, Boris Fehse, Felicitas Thol, Michael Heuser
Molecular genetics may influence outcome for patients with myelofibrosis. To determine the impact of molecular genetics on outcome after allogeneic stem cell transplantation, we screened 169 patients with primary myelofibrosis (n = 110), post-ET/PV myelofibrosis (n = 46), and myelofibrosis in transformation (n = 13) for mutations in 16 frequently mutated genes. The most frequent mutation was JAK2V617F (n = 101), followed by ASXL1 (n = 49), calreticulin (n = 34), SRSF2 (n = 16), TET2 (n = 10), U2AF1 (n = 11), EZH2 (n = 7), MPL (n = 6), IDH2 (n = 5), IDH1 (n = 4), and CBL (n = 1)...
April 4, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28375741/isocitrate-dehydrogenase-mutation-and-r-2-hydroxyglutarate-from-basic-discovery-to-therapeutics-development
#13
Lenny Dang, Shin-San Michael Su
The identification of heterozygous mutations in the metabolic enzyme isocitrate dehydrogenase (IDH) in subsets of cancers, including secondary glioblastoma, acute myeloid leukemia, intrahepatic cholangiocarcinoma, and chondrosarcomas, led to intense discovery efforts to delineate the mutations' involvement in carcinogenesis and to develop therapeutics, which we review here. The three IDH isoforms nicotinamide adenine dinucleotide phosphate-dependent IDH1 and IDH2, and nicotinamide adenine dinucleotide-dependent IDH3) contribute to regulating the circuitry of central metabolism...
April 3, 2017: Annual Review of Biochemistry
https://www.readbyqxmd.com/read/28375433/breast-tumor-resembling-tall-cell-variant-of-papillary-thyroid-carcinoma-a-solid-papillary-neoplasm-with-characteristic-immunohistochemical-profile-and-few-recurrent-mutations
#14
Rohit Bhargava, Anca V Florea, Manuela Pelmus, Miroslawa W Jones, Marguerite Bonaventura, Abigail Wald, Marina Nikiforova
Objectives: Breast tumor resembling tall cell variant of papillary thyroid carcinoma (BTRPTC) is a rare breast lesion that is unrelated to thyroid carcinoma. Morphologically, it shows a solid papillary lesion with bland cytology, eosinophilic/amphophilic secretions, nuclear grooves, reversal of nuclear polarity (recently described), and nuclear inclusions. Clinical course is often uneventful with few exceptions reported in the literature. Herein, we report three additional cases. Methods: Immunohistochemical staining and next-generation sequencing was performed on all three cases...
April 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28345823/mutation-analysis-of-isocitrate-dehydrogenase-idh1-2-and-dna-methyltransferase-3a-dnmt3a-in-thai-patients-with-newly-diagnosed-acute-myeloid-leukemia
#15
Tanasan Sirirat, Suporn Chuncharunee, Pimjai Nipaluk, Teerapong Siriboonpiputtana, Takol Chareonsirisuthigul, Nittaya Limsuwannachot, Budsaba Rerkamnuaychoke
Acute myeloid leukemia (AML) is a clonal hematopoietic stem/progenitor cell disorder which features several genetic mutations. Recurrent genetic alterations identified in AML are recognized as causes of the disease, finding application as diagnostic, prognostic and monitoring markers, with potential use as targets for cancer therapy. Here, we performed a pyrosequencing technique to investigate common mutations of IDH1, IDH2 and DNMT3A in 81 newly diagnosed AML patients. The prevalences of IDH1, IDH2 and DNMT3A mutations were 6...
February 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28341738/higher-hopx-expression-is-associated-with-distinct-clinical-and-biological-features-and-predicts-poor-prognosis-in-de-novo-acute-myeloid-leukemia
#16
Chien-Chin Lin, Yueh-Chwen Hsu, Yi-Hung Li, Yuan-Yeh Kuo, Hsin-An Hou, Keng-Hsueh Lan, Tsung-Chih Chen, Yi-Shiuan Tzeng, Yi-Yi Kuo, Chein-Jun Kao, Po-Han Chuang, Mei-Hsuan Tseng, Yu-Chiao Chiu, Wen-Chien Chou, Hwei-Fang Tien
Homeodomain-only protein homeobox (HOPX) is the smallest homeodomain protein. It was regarded as a stem cell marker in several non-hematopoietic systems. While the prototypic homeobox genes such as HOX family have been well characterized in acute myeloid leukemia, the clinical and biological implications of HOPX in the disease remain unknown. Thus we analyzed HOPX and global gene expression patterns in 347 newly diagnosed de novo acute myeloid leukemia patients in our institute. We found that higher HOPX expression was closely associated with older age, higher platelet counts, lower white blood cell counts, lower lactate dehydrogenase levels, and mutations in RUNX1, IDH2, ASXL1, and DNMT3A, but negatively associated with acute promyelocytic leukemia, favorable karyotypes, CEBPA double mutations and NPM1 mutation...
March 24, 2017: Haematologica
https://www.readbyqxmd.com/read/28337768/tet2-mutations-in-b-cells-of-patients-affected-by-angioimmunoblastic-t-cell-lymphoma
#17
Friederike H Schwartz, Qian Cai, Eva Fellmann, Sylvia Hartmann, Mikko I Mäyränpää, Marja-Liisa Karjalainen-Lindsberg, Christer Sundström, René Scholtysik, Martin-Leo Hansmann, Ralf Küppers
Angioimmunoblastic T cell lymphomas (AITL) frequently carry mutations in the TET2 and IDH2 genes. TET2 mutations represent early genetic lesions as they were already detected in hematopoietic precursor cells of AITL patients. We show by analysis of whole tissue sections and microdissected PD1(+) cells that the frequency of TET2-mutated AITL is presumably even higher than reported (12/13 cases in our collection, 92%). In two thirds of informative AITL (6/9) also a fraction of B cells was TET2-mutated. Investigation of four AITL by TET2 and IGHV gene sequencing of single microdissected B cells showed that between 10-60% of polyclonal B cells in AITL lymph nodes harboured the identical TET2 mutations of the respective T cell lymphoma clone...
March 24, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28335073/clinical-characteristics-and-whole-exome-transcriptome-sequencing-of-coexisting-chronic-myeloid-leukemia-and-myelofibrosis
#18
Malathi Kandarpa, Yi-Mi Wu, Dan Robinson, Patrick William Burke, Arul M Chinnaiyan, Moshe Talpaz
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell (HSC) disorders that can be classified on the basis of genetic, clinical, phenotypic features. Genetic lesions such as JAK2 mutations and BCR-ABL translocation are often mutually exclusive in MPN patients and lead to essential thrombocythemia, polycythemia vera, or myelofibrosis or chronic myeloid leukemia, respectively. Nevertheless, coexistence of these genetic aberrations in the same patient has been reported. Whether these aberrations occur in the same stem cell or a different cell is unclear, but an unstable genome in the HSCs seems to be the common antecedent...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28325290/rna-guided-crispr-cas9-system-mediated-engineering-of-acute-myeloid-leukemia-mutations
#19
Oliver Brabetz, Vijay Alla, Linus Angenendt, Christoph Schliemann, Wolfgang E Berdel, Maria-Francisca Arteaga, Jan-Henrik Mikesch
Current acute myeloid leukemia (AML) disease models face severe limitations because most of them induce un-physiological gene expressions that do not represent conditions in AML patients and/or depend on external promoters for regulation of gene expression/repression. Furthermore, many AML models are based on reciprocal chromosomal translocations that only reflect the minority of AML patients, whereas more than 50% of patients have a normal karyotype. The majority of AML, however, is driven by somatic mutations...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28319049/resisting-fatal-attraction-a-glioma-oncometabolite-prevents-cd8-t-cell-recruitment
#20
Liliana E Lucca, David A Hafler
Immunotherapy has emerged as a potent approach for treating aggressive cancers, such as non-small-cell lung tumors and metastatic melanoma. Clinical trials are now in progress for patients with malignant gliomas; however, a better understanding of how these tumors escape immune surveillance is required to enhance antitumor immune responses. With gliomas, the recruitment of CD8+ T cells to the tumor is impaired, in part preventing containment or elimination of the tumor. In this issue of the JCI, Kohanbash and colleagues present an elegant dissection of how gliomas exploit an enzymatic activity acquired through a common mutation to abrogate the migration of CD8+ T cells to the tumor...
April 3, 2017: Journal of Clinical Investigation
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