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https://www.readbyqxmd.com/read/28938223/the-high-frequency-of-the-u2af1-s34y-mutation-and-its-association-with-isolated-trisomy-8-in-myelodysplastic-syndrome-in-asians-but-not-in-caucasians
#1
Seon Young Kim, Kwantae Kim, Byungjin Hwang, Kyongok Im, Si Nae Park, Jung-Ah Kim, Sang Mee Hwang, Duhee Bang, Dong Soon Lee
Mutational profiles of 153 Korean myelodysplastic syndrome (MDS) patients were investigated. Sequencing of 87 genes presented similar mutational profiles in Korean MDS patients compared with previous reports. The most frequently mutated genes were ASXL1 (22.9%), U2AF1 (16.3%), TP53 (13.7%), RUNX1 (10.5%), TET2 (10.5%), DNMT3A (8.5%), and SRSF2 (8.5%). The U2AF1 mutation frequency was higher, with different frequencies in the mutated sites of U2AF1 (S34Y, 6/25; S34F, 11/25; and Q157P 8/25). The U2AF1 S34Y mutation was strongly associated with isolated trisomy 8 (5/6, 83%) and was characterized by a younger age of MDS onset (median, 39 years)...
September 7, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28933735/clinical-outcomes-and-co-occurring-mutations-in-patients-with-runx1-mutated-acute-myeloid-leukemia
#2
Maliha Khan, Jorge Cortes, Tapan Kadia, Kiran Naqvi, Mark Brandt, Sherry Pierce, Keyur P Patel, Gautam Borthakur, Farhad Ravandi, Marina Konopleva, Steven Kornblau, Hagop Kantarjian, Kapil Bhalla, Courtney D DiNardo
(1) Runt-related transcription factor 1 (RUNX1) mutations in acute myeloid leukemia (AML) are often associated with worse prognosis. We assessed co-occurring mutations, response to therapy, and clinical outcomes in patients with and without mutant RUNX1 (mRUNX1); (2) We analyzed 328 AML patients, including 177 patients younger than 65 years who received intensive chemotherapy and 151 patients >65 years who received hypomethylating agents. RUNX1 and co-existing mutations were identified using next-generation sequencing; (3) RUNX1 mutations were identified in 5...
July 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28933515/b-cell-lymphoblastic-lymphoma-presenting-as-solitary-temporal-mass-with-amplification-of-aml1-runx1-case-report
#3
Rocco Sabatino, Gabriella Aquino, Antonio Pinto, Miguel Angel Piris, Laura Marra, Maria Napolitano, Annarosaria De Chiara, Renato Franco
No abstract text is available yet for this article.
September 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28927163/frequency-and-clinicopathologic-features-of-runx1-mutations-in-patients-with-acute-myeloid-leukemia-not-otherwise-specified
#4
Eunkyoung You, Young-Uk Cho, Seongsoo Jang, Eul-Ju Seo, Jung-Hee Lee, Je-Hwan Lee, Kyoo-Hyung Lee, Kyung-Nam Koh, Ho Joon Im, Jong Jin Seo, Young-Mi Park, Jong-Keuk Lee, Chan-Jeoung Park
Objectives: To evaluate the frequency and clinicopathologic characteristics of RUNX1 mutations, focusing on patients with acute myeloid leukemia not otherwise specified (AML NOS). Methods: Diagnostic samples from 219 patients with AML NOS were analyzed for RUNX1 mutations using standard polymerase chain reaction and direct sequencing. Results: Thirty-one RUNX1 mutations were detected in 33 (15.1%) patients. Mutations clustered in the Runt homology (61...
July 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28926105/loss-of-runx1-is-associated-with-aggressive-lung-adenocarcinomas
#5
Jon Ramsey, Kelly Butnor, Zhihua Peng, Tim Leclair, Jos van der Velden, Gary Stein, Jane Lian, C Matthew Kinsey
The mammalian runt-related factor 1 (RUNX1) is a master transcription factor that regulates lineage specification of hematopoietic stem cells. RUNX1 translocations result in the development of myeloid leukemias. Recently, RUNX1 has been implicated as a tumor suppressor in other cancers. We postulated RUNX1 expression may be associated with lung adenocarcinoma etiology and/or progression. We evaluated the association of RUNX1 mRNA expression with overall survival data from The Cancer Genome Atlas (TCGA), a publically available database...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28926098/distinct-mechanisms-of-regulation-of-the-itga6-and-itgb4-genes-by-runx1-in-myeloid-cells
#6
Jessica L Phillips, Phillippa C Taberlay, Alexandra M Woodworth, Kristine Hardy, Kate H Brettingham-Moore, Joanne L Dickinson, Adele F Holloway
Integrins are transmembrane adhesion receptors that play an important role in hematopoiesis by facilitating interactions between hematopoietic cells and extracellular matrix components of the bone marrow and hematopoietic tissues. These interactions are important in regulating the function, proliferation and differentiation of hematopoietic cells, as well as their homing and mobilization in the bone marrow. Not surprisingly altered expression and function of integrins plays a key role in the development and progression of cancer including leukemias...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28923882/mutational-profiling-of-acute-myeloid-leukemia-with-normal-cytogenetics-in-brazilian-patients-the-value-of-next-generation-sequencing-for-genomic-classification
#7
Thiago Rodrigo de Noronha, Miguel Mitne-Neto, Maria de Lourdes Chauffaille
Karyotype (KT) aberrations are important prognostic factors for acute myeloid leukemia (AML); however, around 50% of cases present normal results. Single nucleotide polymorphism array can detect chromosomal gains, losses or uniparental disomy that are invisible to KT, thus improving patients' risk assessment. However, when both tests are normal, important driver mutations can be detected by the use of next-generation sequencing (NGS). Fourteen adult patients with AML with normal cytogenetics were investigated by NGS for 19 AML-related genes...
September 18, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/28915648/synergistic-suppression-of-t-8-21-positive-leukemia-cell-growth-by-combining-oridonin-and-mapk1-erk2-inhibitors
#8
Pavel Spirin, Timofey Lebedev, Natalia Orlova, Alexey Morozov, Nadezhda Poymenova, Sergey E Dmitriev, Anton Buzdin, Carol Stocking, Olga Kovalchuk, Vladimir Prassolov
One of the most common chromosomal translocations in acute myeloid leukemia is t(8;21)(q22;q22), which results in the appearance of abnormal transcripts encoding for the fusion protein RUNX1-ETO. Therefore, this oncoprotein is considered to be a pertinent and promising target for treating t(8;21) leukemia. Previously, we have shown that downregulation of RUNX1-ETO leads to activation of intracellular signaling pathways enhancing cell survival and determined that the protein ERK2 can mediate activation of most of these pathways...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28903318/myc-dependent-recruitment-of-runx1-and-gata2-on-the-set-oncogene-promoter-enhances-pp2a-inactivation-in-acute-myeloid-leukemia
#9
Raffaella Pippa, Ana Dominguez, Raquel Malumbres, Akinori Endo, Elena Arriazu, Nerea Marcotegui, Elizabeth Guruceaga, María D Odero
The SET (I2PP2A) oncoprotein is a potent inhibitor of protein phosphatase 2A (PP2A) that regulates many cell processes and important signaling pathways. Despite the importance of SET overexpression and its prognostic impact in both hematologic and solid tumors, little is known about the mechanisms involved in its transcriptional regulation. In this report, we define the minimal promoter region of the SET gene, and identify a novel multi-protein transcription complex, composed of MYC, SP1, RUNX1 and GATA2, which activates SET expression in AML...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28895127/evaluation-of-ccaat-enhancer-binding-protein-c-ebp-alpha-cebpa-and-runt-related-transcription-factor-1-runx1-expression-in-patients-with-de-novo-acute-myeloid-leukemia
#10
Fatemeh Salarpour, Kourosh Goudarzipour, Mohammad Hossein Mohammadi, Ahmad Ahmadzadeh, Sara Faraahi, Mehdi Allahbakhshian Farsani
The CCAAT/enhancer binding protein (C/EBP) alpha (CEBPA) and Runt-related transcription factor 1 (RUNX1) genes have been traditionally regarded as two essential genes involved in normal myeloid maturation. Although the link between mutations in these genes and the development of acute myeloid leukemia (AML) has been extensively documented, the ramifications of gene expression dysregulations of CEBPA and RUNX1 has drawn less attention. The present study investigated CEBPA and RUNX1 gene expression levels in 96 primary AML specimens against a normal control group by way of real-time RT-PCR...
September 11, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28883285/genetic-abnormalities-in-core-binding-factor-acute-myeloid-leukemia
#11
Yuichi Ishikawa
Acute myeloid leukemia (AML) is a genetically heterogeneous disease, and its prognosis is stratified on the basis of chromosomal and genetic alterations. Core binding factor (CBF) leukemia consists of AML with t (8;21) (p22;q22) and inv16 (q16q16) /t (16;16) (q16;q16) and is included in AML with recurrent genetic abnormality according to WHO classification. Although CBF-AML is categorized as favorable-risk AML, approximately 40% of patients show relapse. The t (8;21) and inv16 (q16q16) /t (16;16) (q16;q16) result in RUNX1-RUNX1T1 and CBFB-MYH11 fusion genes, respectively; however, the fusion proteins encoded by these genes alone are insufficient for the development of leukemia...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28877957/identification-of-a-new-adtrp1-tfpi-regulatory-axis-for-the-specification-of-primitive-myelopoiesis-and-definitive-hematopoiesis
#12
Li Wang, Xiaojing Wang, Longfei Wang, Muhammad Yousaf, Jia Li, Mengxia Zuo, Zhongcheng Yang, Dongzhi Gou, Binghao Bao, Lei Li, Ning Xiang, Haibo Jia, Chengqi Xu, Qiuyun Chen, Qing Kenneth Wang
A genomic variant in the human ADTRP [androgen-dependent tissue factor (TF) pathway inhibitor (TFPI) regulating protein] gene increases the risk of coronary artery disease, the leading cause of death worldwide. TFPI is the TF pathway inhibitor that is involved in coagulation. Here, we report that adtrp and tfpi form a regulatory axis that specifies primitive myelopoiesis and definitive hematopoiesis, but not primitive erythropoiesis or vasculogenesis. In zebrafish, there are 2 paralogues for adtrp (i.e., adtrp1 and adtrp2)...
September 6, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28877240/runx1-mediates-the-development-of-the-granular-convoluted-tubules-in-the-submandibular-glands
#13
Hitomi Ono Minagi, Safiye Esra Sarper, Hiroshi Kurosaka, Koh-Ichi Kuremoto, Ichiro Taniuchi, Takayoshi Sakai, Takashi Yamashiro
The mouse granular convoluted tubules (GCTs), which are only located in the submandibular gland (SMG) are known to develop and maintain their structure in an androgen-dependent manner. We previously demonstrated that the GCTs are involuted by the epithelial deletion of core binding factor β (CBFβ), a transcription factor that physically interacts with any of the Runt-related transcription factor (RUNX) proteins (RUNX1, 2 and 3). This result clearly demonstrates that the Runx /Cbfb signaling pathway is indispensable in the development of the GCTs...
2017: PloS One
https://www.readbyqxmd.com/read/28875545/targeted-next-generation-sequencing-in-myelodysplastic-syndromes-and-prognostic-interaction-between-mutations-and-ipss-r
#14
Ayalew Tefferi, Terra L Lasho, Mrinal M Patnaik, Lyla Saeed, Mythri Mudireddy, Dame Idossa, Christy Finke, Rhett P Ketterling, Animesh Pardanani, Naseema Gangat
A 27-gene panel was used for next-generation sequencing (NGS) in 179 patients (median age 73 years) with primary myelodysplastic syndromes (MDS); risk distribution according to the revised International Prognostic Scoring System (IPSS-R) was 11% very high, 18% high, 17% intermediate, 38% low and 16% very low. At least one mutation/variant was detected in 147 (82%) patients; 23% harbored three or more mutations/variants. The most frequent mutations/variants included ASXL1 (30%), TET2 (25%), SF3B1 (20%), U2AF1 (16%), SRSF2 (16%), TP53 (13%), RUNX1 (11%) and DNMT3A (10%)...
September 5, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28869683/runx1c-regulates-hematopoietic-differentiation-of-human-pluripotent-stem-cells-possibly-in-cooperation-with-proinflammatory-signaling
#15
Oscar Navarro-Montero, Veronica Ayllon, Mar Lamolda, Lourdes López-Onieva, Rosa Montes, Clara Bueno, Elizabeth Ng, Xiomara Guerrero-Carreno, Tamara Romero, Damià Romero-Moya, Ed Stanley, Andrew Elefanty, Verónica Ramos-Mejia, Pablo Menendez, Pedro J Real
Runt-related transcription factor 1 (Runx1) is a master hematopoietic transcription factor essential for hematopoietic stem cell (HSC) emergence. Runx1-deficient mice die during early embryogenesis due to the inability to establish definitive hematopoiesis. Here, we have used human pluripotent stem cells (hPSCs) as model to study the role of RUNX1 in human embryonic hematopoiesis. Although the three RUNX1 isoforms a, b, and c were induced in CD45+ hematopoietic cells, RUNX1c was the only isoform induced in hematoendothelial progenitors (HEPs)/hemogenic endothelium...
September 4, 2017: Stem Cells
https://www.readbyqxmd.com/read/28855357/chemogenomic-landscape-of-runx1-mutated-aml-reveals-importance-of-runx1-allele-dosage-in-genetics-and-glucocorticoid-sensitivity
#16
Laura Simon, Vincent-Philippe Lavallée, Marie-Eve Bordeleau, Jana Krosl, Irene Baccelli, Geneviève Boucher, Bernhard Lehnertz, Jalila Chagraoui, Tara MacRae, Réjean Ruel, Yves A Chantigny, Sébastien Lemieux, Anne Marinier, Josée Hébert, Guy Sauvageau
PURPOSE: RUNX1-mutated (RUNX1mut) Acute Myeloid Leukemia (AML) is associated with adverse outcome, highlighting the urgent need for a better genetic characterization of this AML subgroup and for the design of efficient therapeutic strategies for this disease. Towards this goal, we further dissected the mutational spectrum and gene expression profile of RUNX1mut AML and correlated these results to drug sensitivity to identify novel compounds targeting this AML subgroup. EXPERIMENTAL DESIGN: RNA-sequencing of 47 RUNX1mut primary AML specimens was performed and sequencing results were compared to those of RUNX1 wild-type samples...
August 30, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28855157/h3-k27m-i-mutations-promote-context-dependent-transformation-in-acute-myeloid-leukemia-with-runx1-alterations
#17
Bernhard Lehnertz, Yu Wei Zhang, Isabel Boivin, Nadine Mayotte, Elisa Tomellini, Jalila Chagraoui, Vincent-Philippe Lavallée, Josée Hébert, Guy Sauvageau
Neomorphic missense mutations affecting crucial lysine residues in histone H3 genes significantly contribute to a variety of solid cancers. Despite the high prevalence of H3(K27M) mutations in pediatric glioblastoma and their well-established impact on global histone H3 lysine 27 di and trimethylation (H3K27me2/3), the relevance of these mutations has not been studied in acute myeloid leukemia (AML). Here, we report the first identification of H3(K27M) and H3(K27I) mutations in AML patients. We find that these lesions are major determinants of reduced H3K27me2/3 in these patients and that they associate with common aberrations in the RUNX1 gene...
August 30, 2017: Blood
https://www.readbyqxmd.com/read/28854978/the-neoepitope-landscape-in-pediatric-cancers
#18
Ti-Cheng Chang, Robert A Carter, Yongjin Li, Yuxin Li, Hong Wang, Michael N Edmonson, Xiang Chen, Paula Arnold, Terrence L Geiger, Gang Wu, Junmin Peng, Michael Dyer, James R Downing, Douglas R Green, Paul G Thomas, Jinghui Zhang
BACKGROUND: Neoepitopes derived from tumor-specific somatic mutations are promising targets for immunotherapy in childhood cancers. However, the potential for such therapies in targeting these epitopes remains uncertain due to a lack of knowledge of the neoepitope landscape in childhood cancer. Studies to date have focused primarily on missense mutations without exploring gene fusions, which are a major class of oncogenic drivers in pediatric cancer. METHODS: We developed an analytical workflow for identification of putative neoepitopes based on somatic missense mutations and gene fusions using whole-genome sequencing data...
August 31, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28853218/mutational-status-of-nras-kras-and-ptpn11-genes-is-associated-with-genetic-cytogenetic-features-in-children-with-b-precursor-acute-lymphoblastic-leukemia
#19
Der-Cherng Liang, Shih-Hsiang Chen, Hsi-Che Liu, Chao-Ping Yang, Ting-Chi Yeh, Tang-Her Jaing, Iou-Jih Hung, Jen-Yin Hou, Tung-Huei Lin, Chun-Hui Lin, Lee-Yung Shih
BACKGROUND: We aimed to investigate the frequencies and the association with genetic/cytogenetic abnormalities as well as prognostic relevance of RAS pathway mutations in Taiwanese children with B-precursor acute lymphoblastic leukemia (ALL), the largest cohort in Asians. PROCEDURE: Between 1995 and 2012, marrow samples at diagnosis from 535 children were studied for NRAS, KRAS, and PTPN11 mutations. The mutational status of each gene was correlated with the clinico-hematological features, recurrent genetic abnormalities, and outcomes for those treated with TPOG-ALL-2002 protocol (n = 346)...
August 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28844082/molecular-data-and-the-ipss-r-how-mutational-burden-can-affect-prognostication-in-mds
#20
REVIEW
Aziz Nazha, Rafael Bejar
PURPOSE OF REVIEW: The purpose of this study is to review established prognostic models in myelodysplastic syndromes (MDS) and describe how molecular data can be used to improve patient risk stratification. RECENT FINDINGS: Somatic mutations are common in MDS and are associated with disease features including outcomes. Several recurrently mutated genes have prognostic significance independent of risk stratification tools used in practice. However, this prognostic impact can depend on the clinicogenetic context in which mutations occur...
August 26, 2017: Current Hematologic Malignancy Reports
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