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https://www.readbyqxmd.com/read/28459701/mecom-evi1-rearrangements-a-review-and-case-report-of-two-mds-patients-with-complex-3q-inversion-deletions
#1
Helen Lawce, Elina Szabo, Yumi Torimaru, Craig Davis, Karin Osterberg, Susan Olson, Steve Moore
Acute myelogeneous leukemia (AML) with inv(3)/t(3;3)(q13q25) is associated with aberrant expression of the stem-cell regulator MECOM (aka EVI1). Two bone marrow samples received in the OHSU Knight Diagnostic Laboratories (KDL) Cytogenetics Laboratory for chromosomes and FISH for a question of progression of myelodysplastic syndrome (MDS) to AML showed complex abnormalities including a deletion of chromosome 3q, one with del(3)(q13q25) and the other with del(3)(q22q25). In light of the prognostic importance of the activation of the MECOM oncogene and the concurrent inactivation of the GATA2 tumor suppressor that occurs with the classic inversion of chromosome 3q, fluorescence in situ hybridization (FISH) was performed using two different probe designs to better define the 3q deletions in the two cases...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28409341/zebrafish-pronephros-development
#2
Richard W Naylor, Sarah S Qubisi, Alan J Davidson
The pronephros is the first kidney type to form in vertebrate embryos. The first step of pronephrogenesis in the zebrafish is the formation of the intermediate mesoderm during gastrulation, which occurs in response to secreted morphogens such as BMPs and Nodals. Patterning of the intermediate mesoderm into proximal and distal cell fates is induced by retinoic acid signaling with downstream transcription factors including wt1a, pax2a, pax8, hnf1b, sim1a, mecom, and irx3b. In the anterior intermediate mesoderm, progenitors of the glomerular blood filter migrate and fuse at the midline and recruit a blood supply...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28392805/cadherins-associate-with-distinct-stem-cell-related-transcription-factors-to-coordinate-the-maintenance-of-stemness-in-triple-negative-breast-cancer
#3
Chuanwei Yang, Xuemei Zhao, Naipeng Cui, Yulong Liang
Triple-negative breast cancer (TNBC) is an aggressive type of breast cancer with poor prognosis and is enriched in cancer stem cells (CSCs). However, it is not completely understood how the CSCs were maintained in TNBC. In this study, by analyzing The Cancer Genome Atlas (TCGA) provisional datasets and several small-size breast datasets, we found that cadherins (CDHs) 2, 4, 6, and 17 were frequently amplified/overexpressed in 47% of TNBC while E-cadherin (CDH1) was downregulated/mutated at 10%. The alterations of CDH2/4/6/17 were strongly associated with the elevated levels of several stem cell-related transcription factors (SC-TFs) including FOXM1, MCM2, WWTR1, SNAI1, and SOX9...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28391050/the-mds-and-evi1-complex-locus-mecom-isoforms-regulate-their-own-transcription-and-have-different-roles-in-the-transformation-of-hematopoietic-stem-and-progenitor-cells
#4
Miren Maicas, Iria Vázquez, Rafael Alis, Nerea Marcotegui, Leire Urquiza, Xabier Cortés-Lavaud, Ion Cristóbal, María A García-Sánchez, María D Odero
Transcriptional activation of the EVI1 oncogene (3q26) leads to aggressive forms of human acute myeloid leukemia (AML). However, the mechanism of EVI1-mediated leukemogenesis has not been fully elucidated. Previously, by characterizing the EVI1 promoter, we have shown that RUNX1 and ELK1 directly regulate EVI1 transcription. Intriguingly, bioinformatic analysis of the EVI1 promoter region identified the presence of several EVI1 potential binding sites. Thus, we hypothesized that EVI1 could bind to these sites regulating its own transcription...
June 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28351939/cytoreductive-conditioning-intensity-predicts-clonal-diversity-in-ada-scid-retroviral-gene-therapy-patients
#5
Aaron R Cooper, Georgia R Lill, Kit Shaw, Denise Carbonaro, Alejandra Davila, Robert Sokolic, Fabio Candotti, Matteo Pellegrini, Donald B Kohn
Retroviral gene therapy has proven efficacious for multiple genetic diseases of the hematopoietic system, but roughly half of clinical gene therapy trial protocols using gammaretroviral vectors have reported leukemias in some of the patients treated. In dramatic contrast, 39 ADA-SCID patients have been treated with four distinct gammaretroviral vectors without oncogenic consequence. We investigated clonal dynamics and diversity in a cohort of 15 ADA-SCID children treated with gammaretroviral vectors and found clear evidence of genotoxicity, indicated by numerous common integration sites near proto-oncogenes and by increased abundance of clones with integrations near MECOM and LMO2 These clones showed stable behavior over multiple years and never expanded to the point of dominance or dysplasia...
March 28, 2017: Blood
https://www.readbyqxmd.com/read/28191887/the-creatine-kinase-pathway-is-a-metabolic-vulnerability-in-evi1-positive-acute-myeloid-leukemia
#6
Nina Fenouille, Christopher F Bassil, Issam Ben-Sahra, Lina Benajiba, Gabriela Alexe, Azucena Ramos, Yana Pikman, Amy S Conway, Michael R Burgess, Qing Li, Frédéric Luciano, Patrick Auberger, Ilene Galinsky, Daniel J DeAngelo, Richard M Stone, Yi Zhang, Archibald S Perkins, Kevin Shannon, Michael T Hemann, Alexandre Puissant, Kimberly Stegmaier
Expression of the MECOM (also known as EVI1) proto-oncogene is deregulated by chromosomal translocations in some cases of acute myeloid leukemia (AML) and is associated with poor clinical outcome. Here, through transcriptomic and metabolomic profiling of hematopoietic cells, we reveal that EVI1 overexpression alters cellular metabolism. A screen using pooled short hairpin RNAs (shRNAs) identified the ATP-buffering, mitochondrial creatine kinase CKMT1 as necessary for survival of EVI1-expressing cells in subjects with EVI1-positive AML...
March 2017: Nature Medicine
https://www.readbyqxmd.com/read/28114305/targeted-sequencing-of-lung-function-loci-in-chronic-obstructive-pulmonary-disease-cases-and-controls
#7
María Soler Artigas, Louise V Wain, Nick Shrine, Tricia M McKeever, Ian Sayers, Ian P Hall, Martin D Tobin
Chronic obstructive pulmonary disease (COPD) is the third leading cause of death worldwide; smoking is the main risk factor for COPD, but genetic factors are also relevant contributors. Genome-wide association studies (GWAS) of the lung function measures used in the diagnosis of COPD have identified a number of loci, however association signals are often broad and collectively these loci only explain a small proportion of the heritability. In order to examine the association with COPD risk of genetic variants down to low allele frequencies, to aid fine-mapping of association signals and to explain more of the missing heritability, we undertook a targeted sequencing study in 300 COPD cases and 300 smoking controls for 26 loci previously reported to be associated with lung function...
2017: PloS One
https://www.readbyqxmd.com/read/27784745/mutational-landscape-and-gene-expression-patterns-in-adult-acute-myeloid-leukemias-with-monosomy-7-as-a-sole-abnormality
#8
Ann-Kathrin Eisfeld, Jessica Kohlschmidt, Krzysztof Mrózek, Stefano Volinia, James S Blachly, Deedra Nicolet, Christopher Oakes, Karl Kroll, Shelley Orwick, Andrew J Carroll, Richard M Stone, John C Byrd, Albert de la Chapelle, Clara D Bloomfield
Monosomy of chromosome 7 is the most frequent autosomal monosomy in acute myeloid leukemia (AML), where it associates with poor clinical outcomes. However, molecular features associated with this sole monosomy subtype (-7 AML), which may give insights into the basis for its poor prognosis, have not been characterized. In this study, we analyzed 36 cases of -7 AML for mutations in 81 leukemia/cancer-associated genes using a customized targeted next-generation sequencing panel (Miseq). Global gene and miRNA expression profiles were also determined using paired RNA and small RNA sequencing data...
January 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/27620344/intratumoral-heterogeneity-of-frameshift-mutations-in-mecom-gene-is-frequent-in-colorectal-cancers-with-high-microsatellite-instability
#9
Eun Ji Choi, Min Sung Kim, Sang Yong Song, Nam Jin Yoo, Sug Hyung Lee
MECOM gene, also known as EVI, encodes a transcriptional regulator involved in hematopoiesis, apoptosis, development and proliferation. In blood system, MECOM is considered an oncogene, but in solid tumors it has both oncogenic and tumor suppressor activities. Low frequent somatic mutations of MECOM have been detected in many cancers including colorectal cancers (CRC), but the mutation status with respect to the microsatellite instability (MSI) has not been studied. There is an A7 mononucleotide repeat in MECOM coding sequences that could be a mutation target in the cancers with MSI...
January 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27617961/the-pu-1-modulated-microrna-22-is-a-regulator-of-monocyte-macrophage-differentiation-and-acute-myeloid-leukemia
#10
Chao Shen, Ming-Tai Chen, Xin-Hua Zhang, Xiao-Lin Yin, Hong-Mei Ning, Rui Su, Hai-Shuang Lin, Li Song, Fang Wang, Yan-Ni Ma, Hua-Lu Zhao, Jia Yu, Jun-Wu Zhang
MicroRNA-22 (miR-22) is emerging as a critical regulator in organ development and various cancers. However, its role in normal hematopoiesis and leukaemogenesis remains unclear. Here, we detected its increased expression during monocyte/macrophage differentiation of HL-60, THP1 cells and CD34+ hematopoietic stem/progenitor cells, and confirmed that PU.1, a key transcriptional factor for monocyte/macrophage differentiation, is responsible for transcriptional activation of miR-22 during the differentiation. By gain- and loss-of-function experiments, we demonstrated that miR-22 promoted monocyte/macrophage differentiation, and MECOM (EVI1) mRNA is a direct target of miR-22 and MECOM (EVI1) functions as a negative regulator in the differentiation...
September 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27500495/brpf1-is-essential-for-development-of-fetal-hematopoietic-stem-cells
#11
Linya You, Lin Li, Jinfeng Zou, Kezhi Yan, Jad Belle, Anastasia Nijnik, Edwin Wang, Xiang-Jiao Yang
Hematopoietic stem cells (HSCs) serve as a life-long reservoir for all blood cell types and are clinically useful for a variety of HSC transplantation-based therapies. Understanding the role of chromatin organization and regulation in HSC homeostasis may provide important insights into HSC development. Bromodomain- and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator that possesses 4 nucleosome-binding domains and activates 3 lysine acetyltransferases (KAT6A, KAT6B, and KAT7), suggesting that this protein has the potential to stimulate crosstalk between different chromatin modifications...
September 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27453784/pediatric-chronic-myeloid-leukemia-with-inv-3-q21q26-2-and-t-lymphoblastic-transformation-a-case-report
#12
Margaret Lewen, Renee Gresh, Maria Queenan, Michele Paessler, Vinodh Pillai, Elizabeth Hexner, Dale Frank, Adam Bagg, Richard Aplenc, Emi Caywood, Gerald Wertheim
BACKGROUND: Chronic myeloid leukemia (CML) comprises ~3 % of pediatric leukemia. Although therapy with tyrosine kinase inhibitors (TKIs) is highly effective for CML, multiple factors have been identified as predictive of treatment failure. Chromosomal abnormalities involving the MECOM locus at 3q26 portend therapy resistant disease in adults, yet have never been described in pediatric patients and have not been associated with T lymphoblastic progression. CASE PRESENTATION: We present a case of an 11-year-old boy with CML possessing the unique combination of T lymphoblastic transformation and a subclone harboring inv(3)(q21q26...
2016: Biomarker Research
https://www.readbyqxmd.com/read/27438527/molecular-basis-of-inherited-thrombocytopenias-an-update
#13
Anna Savoia
PURPOSE OF REVIEW: Inherited thrombocytopenias are a heterogeneous group of diseases caused by mutations in many genes. They account for approximately only 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of the last year of discoveries on inherited thrombocytopenias focusing on the molecular basis and potential pathogenic mechanisms affecting megakaryopoiesis and platelet production...
September 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/26935937/persistent-polyclonal-binucleated-b-cell-lymphocytosis-and-mecom-gene-amplification
#14
Edouard Cornet, Hossein Mossafa, Karine Courel, Jean-François Lesesve, Xavier Troussard
BACKGROUND: Persistent Polyclonal Binucleated B-cell Lymphocytosis (PPBL) is characterized by a chronic polyclonal B-cell lymphocytosis with binucleated lymphocytes and a polyclonal increase in serum immunoglobulin-M. Cytogenetic is characterized by the presence of a supernumerary isochromosome +i(3)(q10), premature chromosome condensation and chromosomal instability. Outcome of PPBL patients is mostly benign, but subsequent malignancies could occur. The aim of our study is to provide an update of clinical and cytogenetic characteristics of our large cohort of PPBL patients, to describe subsequent malignancies occurring during the follow-up, and to investigate the role of the long arm of chromosome 3 in PPBL...
March 2, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/26834490/expression-of-mecom-is-associated-with-unfavorable-prognosis-in-glioblastoma-multiforme
#15
Aiwu Hou, Lizhen Zhao, Fuzhen Zhao, Weiliang Wang, Jianyi Niu, Bingxuan Li, Zhongjin Zhou, Dongyuan Zhu
BACKGROUND: MDS1 and EVI1 complex locus protein EVI1 (MECOM) is an oncogenic transcription factor in several kinds of cancers. However, the clinical significance of MECOM in glioblastoma multiforme (GBM) has not been well elucidated. PATIENTS AND METHODS: Our study enrolled 86 resected samples of GBM in three medical centers. We detected the expression of MECOM in all the 86 samples by immunohistochemistry and compared the difference of MECOM mRNA between tumor tissues and adjacent tissues with real-time polymerase chain reaction...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/26815134/complex-chromosomal-rearrangements-leading-to-mecom-overexpression-are-recurrent-in-myeloid-malignancies-with-various-3q-abnormalities
#16
Carmen Baldazzi, Simona Luatti, Elisa Zuffa, Cristina Papayannidis, Emanuela Ottaviani, Giulia Marzocchi, Gaia Ameli, Maria Antonella Bardi, Laura Bonaldi, Rossella Paolini, Carmela Gurrieri, Gian Matteo Rigolin, Antonio Cuneo, Giovanni Martinelli, Michele Cavo, Nicoletta Testoni
Chromosomal rearrangements involving 3q26 are recurrent findings in myeloid malignancies leading to MECOM overexpression, which has been associated with a very poor prognosis. Other 3q abnormalities have been reported and cryptic MECOM rearrangements have been identified in some cases. By fluorescence in situ hybridization (FISH) analysis, we investigated 97 acute myeloid leukemia/myelodysplastic syndrome patients with various 3q abnormalities to determine the role and the frequency of the involvement of MECOM...
April 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/26622734/chronic-neutrophilic-leukemia-with-overexpression-of-evi-1-and-concurrent-csf3r-and-setbp1-mutations-a-case-report
#17
Otgonbat Altangerel, Shannan Cao, Juanxia Meng, Peng Liu, Gong Haiyan, Yuanfu Xu, Mingfeng Zhao
Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm, characterized by sustained neutrophilia, splenomegaly, bone marrow granulocytic hyperplasia (without evidence of dysplasia) and an absence of the Philadelphia chromosome. Thus far, ~150 cases of CNL have been described in the literature; however, none have demonstrated overexpression of the ecotropic viral integration site-1 (EVI-1, also known as MECOM) gene. The present study describes a case that fulfilled the World Health Organization diagnostic criteria for CNL, and was associated with overexpression of EVI-1, as well as novel concurrent mutations of colony stimulating factor 3 receptor (CSF3R) and SET binding protein-1 (SETBP1)...
September 2015: Oncology Letters
https://www.readbyqxmd.com/read/26611891/a-new-model-for-non-typeable-haemophilus-influenzae-middle-ear-infection-in-the-junbo-mutant-mouse
#18
Derek Hood, Richard Moxon, Tom Purnell, Caroline Richter, Debbie Williams, Ali Azar, Michael Crompton, Sara Wells, Martin Fray, Steve D M Brown, Michael T Cheeseman
Acute otitis media, inflammation of the middle ear, is the most common bacterial infection in children and, as a consequence, is the most common reason for antimicrobial prescription to this age group. There is currently no effective vaccine for the principal pathogen involved, non-typeable Haemophilus influenzae (NTHi). The most frequently used and widely accepted experimental animal model of middle ear infection is in chinchillas, but mice and gerbils have also been used. We have established a robust model of middle ear infection by NTHi in the Junbo mouse, a mutant mouse line that spontaneously develops chronic middle ear inflammation in specific pathogen-free conditions...
January 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/26581901/mutations-in-mecom-encoding-oncoprotein-evi1-cause-radioulnar-synostosis-with-amegakaryocytic-thrombocytopenia
#19
Tetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Sato, Yuka Saito-Nanjo, Ryo Funayama, Takeshi Nagashima, Shin-Ichi Inoue, Keiko Nakayama, Keiichi Ozono, Shigeo Kure, Yoichi Matsubara, Masue Imaizumi, Yoko Aoki
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and congenital fusion of the radius and ulna. A heterozygous HOXA11 mutation has been identified in two unrelated families as a cause of RUSAT. However, HOXA11 mutations are absent in a number of individuals with RUSAT, which suggests that other genetic loci contribute to RUSAT. In the current study, we performed whole exome sequencing in an individual with RUSAT and her healthy parents and identified a de novo missense mutation in MECOM, encoding EVI1, in the individual with RUSAT...
December 3, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26554871/congenital-thrombocytopenia-in-a-neonate-with-an-interstitial-microdeletion-of-3q26-2q26-31
#20
Arjan Bouman, Lia Knegt, Stefan Gröschel, Claudia Erpelinck, Mathijs Sanders, Ruud Delwel, Taco Kuijpers, Jan Maarten Cobben
Interstitial deletions encompassing the 3q26.2 region are rare. Only one case-report was published this far describing a patient with an interstitial deletion of 3q26.2 (involving the MDS1-EVI1 complex (MECOM)) and congenital thrombocytopenia. In this report we describe a case of a neonate with congenital thrombocytopenia and a constitutional 4.52 Mb deletion of 3q26.2q26.31 including TERC and the first 2 exons of MECOM, involving MDS1 but not EVI1. The deletion was demonstrated by array-CGH on lymphocytes...
February 2016: American Journal of Medical Genetics. Part A
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