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https://www.readbyqxmd.com/read/28214896/the-genomic-landscape-of-pax5-ikzf1-and-cdkn2a-b-alterations-in-b-cell-precursor-acute-lymphoblastic-leukemia
#1
Zhishuo Ou, Maureen Sherer, Jane Casey, Heather A Bakos, Kathleen Vitullo, Jie Hu, Erika Friehling, Susanne M Gollin, Urvashi Surti, Svetlana A Yatsenko
We present a comprehensive comparison of PAX5,IKZF1, and CDKN2A/B abnormalities in 21 B-cell precursor acute lymphoblastic leukemia (B-ALL) patients studied by aCGH and gene-specific FISH assays. In our cohort of B-ALL patients, alterations of IKZF1, PAX5, and CDKN2A/B were detected by aCGH analysis in 43, 52, and 57% of samples, respectively. Deletions of IKZF1 were present in 9 samples, including 5 cases positive for both PAX5 and IKZF1 deletions, implying digenic impairment. Furthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification...
February 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28202519/correlates-of-prenatal-and-early-life-tobacco-smoke-exposure-and-frequency-of-common-gene-deletions-in-childhood-acute-lymphoblastic-leukemia
#2
Adam J de Smith, Maneet Kaur, Semira Gonseth, Alyson A Endicott, Steve Selvin, Luoping Zhang, Ritu Roy, Xiaorong Shao, Helen M Hansen, Alice Y Kang, Kyle M Walsh, Gary V Dahl, Roberta McKean-Cowdin, Catherine Metayer, Joseph L Wiemels
Tobacco smoke exposure has been associated with risk of childhood acute lymphoblastic leukemia (ALL). Understanding the relationship between tobacco exposures and specific mutations may yield etiologic insights. We carried out a case-only analysis to explore whether prenatal and early-life tobacco smoke exposure influences the formation of leukemogenic genomic deletions. Somatic copy-number of 8 genes frequently deleted in ALL (CDKN2A, ETV6, IKZF1, PAX5, RB1, BTG1, PAR1 region, and EBF1) was assessed in 559 pre-treatment tumor samples from the California Childhood Leukemia Study...
February 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28194148/animal-models-of-emerging-tick-borne-phleboviruses-determining-target-cells-in-a-lethal-model-of-sftsv-infection
#3
Keita Matsuno, Yasuko Orba, Kimberly Maede-White, Dana Scott, Friederike Feldmann, Mifang Liang, Hideki Ebihara
The pathogenesis of clinical manifestations caused by newly emerging tick-borne phleboviruses [i.e., Severe fever with thrombocytopenia syndrome virus (SFTSV) and Heartland virus (HRTV)], such as severe thrombocytopenia and lymphocytopenia, are not yet fully understood. In the present study, to establish an animal model mimicking the profile of fatal human cases, we examined the susceptibilities of adult mice from 12 strains, aged mice from two strains, and cynomolgus macaques to SFTSV and/or HRTV infections...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28193567/genomic-analysis-of-adult-b-all-identifies-potential-markers-of-shorter-survival
#4
Shiven Patel, Clinton C Mason, Martha J Glenn, Christian N Paxton, Sara T South, Melissa H Cessna, Julie Asch, Erin F Cobain, Dale L Bixby, Lauren B Smith, Shalini Reshmi, Julie M Gastier-Foster, Joshua D Schiffman, Rodney R Miles
B lymphoblastic leukemia (B-ALL) in adults has a higher risk of relapse and lower long-term survival than pediatric B-ALL, but data regarding genetic prognostic biomarkers are much more limited for adult patients. We identified 70 adult B-ALL patients from three institutions and performed genome-wide analysis via single nucleotide polymorphism (SNP) arrays on DNA isolated from their initial diagnostic sample and, when available, relapse bone marrow specimens to identify recurring copy number alterations (CNA)...
February 3, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28192788/metabolic-gatekeeper-function-of-b-lymphoid-transcription-factors
#5
Lai N Chan, Zhengshan Chen, Daniel Braas, Jae-Woong Lee, Gang Xiao, Huimin Geng, Kadriye Nehir Cosgun, Christian Hurtz, Seyedmehdi Shojaee, Valeria Cazzaniga, Hilde Schjerven, Thomas Ernst, Andreas Hochhaus, Steven M Kornblau, Marina Konopleva, Miles A Pufall, Giovanni Cazzaniga, Grace J Liu, Thomas A Milne, H Phillip Koeffler, Theodora S Ross, Isidro Sánchez-García, Arndt Borkhardt, Keith R Yamamoto, Ross A Dickins, Thomas G Graeber, Markus Müschen
B-lymphoid transcription factors, such as PAX5 and IKZF1, are critical for early B-cell development, yet lesions of the genes encoding these transcription factors occur in over 80% of cases of pre-B-cell acute lymphoblastic leukaemia (ALL). The importance of these lesions in ALL has, until now, remained unclear. Here, by combining studies using chromatin immunoprecipitation with sequencing and RNA sequencing, we identify a novel B-lymphoid program for transcriptional repression of glucose and energy supply...
February 13, 2017: Nature
https://www.readbyqxmd.com/read/28191697/composite-lymphoma-of-peripheral-t-cell-lymphoma-and-hodgkin-lymphoma-mixed-cellularity-type-pathological-and-molecular-analysis
#6
Ayako Ichikawa, Hiroaki Miyoshi, Takuji Yamauchi, Fumiko Arakawa, Riko Kawano, Hiroko Muta, Yasuo Sugita, Koichi Akashi, Koichi Ohshima
Composite lymphomas (CLs) are defined as two unrelated lymphomas occurring at the same time within the same tissue. The incidence of these tumors is low. Of all possible combinations between lymphomas, the least frequent are the ones combining peripheral T-cell lymphoma (PTCL) and Hodgkin lymphoma (HL). We recently identified five cases of CL composed of PTCL and classical HL, mixed cellularity type. We investigated histological and clinical features of these cases. Immunostaining was performed on paraffin sections...
February 13, 2017: Pathology International
https://www.readbyqxmd.com/read/28186653/progression-of-cutaneous-plasmacytoma-to-plasma-cell-leukemia-in-a-dog
#7
Emily D Rout, Alba Maria M Shank, Angharad H K Waite, Andrea Siegel, Anne C Avery, Paul R Avery
A 5-year-old male neutered Bernese Mountain Dog was presented for cutaneous plasmacytoma, which was treated by surgical excision. Four months later, the dog developed multiple skin masses, hyphema, pericardial and mild bicavitary effusions, myocardial masses, and marked plasmacytosis in the peripheral blood. Circulating plasma cells expressed CD34 and MHC class II by flow cytometry. Immunocytochemistry demonstrated that these cells were strongly positive for multiple myeloma oncogene 1/interferon regulatory factor 4 (MUM-1) and weakly to moderately positive for Pax5...
February 10, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28186602/-analysis-of-isodicentric-ph-chromosomes-in-chronic-myeloid-leukemia-blast-crisis
#8
Qian Li, Xiaoji Lin, Ying Lin, Rongxin Yao, Wu Huang, Handong Mei, Jian Gong, Hui Chen, Ningyan Teng
OBJECTIVE: To explore the genetic and clinical characteristics of isodicentric Ph chromosomes [idic(Ph)] in lymphoid blast crisis of chronic myeloid leukemia (CML-BLC). METHODS: Bone marrow aspirates of 2 patients with CML-BLC were analyzed by R banding after 24 hours of culturing. Genomic copy number variations (CNV) were analyzed by single nucleotide polymorphism array (SNP array) in case 1. The results were confirmed with fluorescence in situ hybridization (FISH)...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28176614/acanthomatous-ameloblastoma-with-atypical-foci-in-five-dogs
#9
Jennifer L Malmberg, Elizabeth W Howerth, Barb E Powers, Paula A Schaffer
Acanthomatous ameloblastoma is a common, locally invasive, nonmetastasizing tumor of the canine oral cavity. The long-term prognosis for canine acanthomatous ameloblastoma is good if complete excision can be achieved, usually by maxillectomy or mandibulectomy. A variant of acanthomatous ameloblastoma with atypical foci was noted in 5 dogs. There was no age, breed, or sex predisposition. Atypical cells were pleomorphic with a high mitotic rate. They were immunohistochemically negative for cytokeratin, vimentin, melan A, PNL2, CD3, Pax5, CD18, chromogranin A, and synaptophysin...
January 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28158851/p27kip1-pcaf-and-pax5-cooperate-in-the-transcriptional-regulation-of-specific-target-genes
#10
Anna Perearnau, Serena Orlando, Abul B M M K Islam, Edurne Gallastegui, Jonatan Martínez, Albert Jordan, Anna Bigas, Rosa Aligué, Maria Jesús Pujol, Oriol Bachs
No abstract text is available yet for this article.
February 3, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28128856/experimental-arthritis-in-the-rat-induced-by-the-superantigen-staphylococcal-enterotoxin-a-sea
#11
Kristina Gerlach, Christian Tomuschat, Rainer Finke, Martin Sebastian Staege, Christine Brütting, Jörg Brandt, Berit Jordan, René Schwesig, Angela Rosemeier, Karl-Stefan Delank, Malte Erich Kornhuber, Alexander Emmer
The pathogenesis of rheumatoid arthritis (RA) is incompletely understood. Human endogenous retroviruses (HERVs) and their superantigenic envelope protein (env) have been implicated in the pathogenesis of RA. In the present investigation the arthritogenic potential of the superantigen Staphylococcal enterotoxin A (SEA) has been investigated. In the present investigation, the bacterial superantigen Staphylococcal enterotoxin A (SEA) was injected into the right knee joint of 15 Lewis rats. Further 9 animals received saline...
January 27, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28069005/prognostic-efficacy-of-the-human-b-cell-lymphoma-prognostic-genes-in-predicting-disease-free-survival-dfs-in-the-canine-counterpart
#12
Mohamad Zamani-Ahmadmahmudi, Sina Aghasharif, Keyhan Ilbeigi
BACKGROUND: Canine B-cell lymphoma is deemed an ideal model of human non-Hodgkin's lymphoma where the lymphomas of both species share similar clinical features and biological behaviors. However there are some differences between tumor features in both species. In the current study, we sought to evaluate the prognostic efficacy of human B-cell lymphoma prognostic gene signatures in canine B-cell lymphoma. METHODS: The corresponding probe sets of 36 human B-cell lymphoma prognostic genes were retrieved from 2 canine B-cell lymphoma microarray datasets (GSE43664 and GSE39365) (76 samples), and prognostic probe sets were thereafter detected using the univariate and multivariate Cox proportional-hazard model and the Kaplan-Meier analysis...
January 9, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28063478/developmental-expression-of-b-cell-molecules-in-equine-lymphoid-tissues
#13
J M B Prieto, R L Tallmadge, M J B Felippe
Identification and classification of B cell subpopulations has been shown to be challenging and inconsistent among different species. Our study tested aspects of ontogeny, phenotype, tissue distribution, and function of equine CD5(hi) B cells, which represented a greater proportion of B cells early in development and in the peritoneal cavity. CD5(hi) and CD5(lo) B cells differentially expressed B cell markers (CD2, CD21, IgM) measured using flow cytometry, but similar mRNA expression of signature genes (DGKA, FGL2, PAX5, IGHM, IL10) measured using quantitative RT-PCR...
January 2017: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/28061782/double-hit-lymphomas-clinical-morphological-immunohistochemical-and-cytogenetic-study-in-a-series-of-brazilian-patients-with-high-grade-non-hodgkin-lymphoma
#14
Cristiano Claudino Oliveira, Helena Maciel-Guerra, Luan Kucko, Eric Jun Hirama, Américo Delgado Brilhante, Francisco Carlos Quevedo, Isabela Werneck da Cunha, Fernando Augusto Soares, Ligia Niero-Melo, Patrícia Pintor Dos Reis, Maria Aparecida Custodio Domingues
BACKGROUND: Double-hit lymphomas (DHL) are rare high-grade neoplasms characterized by two translocations: one involving the gene MYC and another involving genes BCL2 or BCL6, whose diagnosis depends on cytogenetic examination. This research studied DHL and morphological and/or immunophenotypic factors associated with the detection of these translocations in a group of high-grade non-Hodgkin lymphoma cases. METHOD: Clinical and morphological reviews of 120 cases diagnosed with diffuse large B-cell lymphoma and Burkitt lymphoma were conducted...
January 7, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28002487/long-term-transcriptomic-effects-of-prebiotics-and-synbiotics-delivered-in-ovo-in-broiler-chickens
#15
Anna Slawinska, Arkadiusz Plowiec, Maria Siwek, Marcin Jaroszewski, Marek Bednarczyk
In ovo delivery of prebiotics and synbiotics in chickens allows for the development of intestinal microflora prior to hatching, which boosts their robustness. The goal of this study was to determine the transcriptomic profile of the spleen (S), cecal tonsils (CT), and large intestine (LI) of adult chickens injected with prebiotics and synbiotics in ovo. On day 12 of embryo development, incubating eggs were injected with prebiotics: inulin alone (P1) or in combination with Lactococcus lactis subsp. lactis IBB2955 (S1), galactooligosaccharides (GOS) alone (P2) or in combination with Lactococcus lactis subsp...
2016: PloS One
https://www.readbyqxmd.com/read/27998931/human-population-specific-gene-expression-and-transcriptional-network-modification-with-polymorphic-transposable-elements
#16
Lu Wang, Lavanya Rishishwar, Leonardo Mariño-Ramírez, I King Jordan
Transposable element (TE) derived sequences are known to contribute to the regulation of the human genome. The majority of known TE-derived regulatory sequences correspond to relatively ancient insertions, which are fixed across human populations. The extent to which human genetic variation caused by recent TE activity leads to regulatory polymorphisms among populations has yet to be thoroughly explored. In this study, we searched for associations between polymorphic TE (polyTE) loci and human gene expression levels using an expression quantitative trait loci (eQTL) approach...
December 19, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27979924/tumor-suppressors-btg1-and-ikzf1-cooperate-during-mouse-leukemia-development-and-increase-relapse-risk-in-b-cell-precursor-acute-lymphoblastic-leukemia-patients
#17
Blanca Scheijen, Judith M Boer, Rene' Marke, Esther Tijchon, Dorette van Ingen Schenau, Esme' Waanders, Liesbeth van Emst, Laurens T van der Meer, Rob Pieters, Gabriele Escherich, Martin A Horstmann, Edwin Sonneveld, Nicola Venn, Rosemary Sutton, Luciano Dalla-Pozza, Roland P Kuiper, Peter M Hoogerbrugge, Monique L den Boer, Frank N van Leeuwen
Deletions and mutations affecting lymphoid transcription factor IKZF1 (IKAROS) are associated with an increased relapse risk and poor outcome in B-cell precursor acute lymphoblastic leukemia. However, additional genetic events may either enhance or negate the effects of IKZF1 deletions on prognosis. In a large discovery cohort of 533 childhood B-cell precursor acute lymphoblastic leukemia patients, we observed that single copy losses of BTG1 were significantly enriched in IKZF1-deleted B-cell precursor acute lymphoblastic leukemia (P=0...
December 15, 2016: Haematologica
https://www.readbyqxmd.com/read/27967600/dna-methylation-is-an-independent-prognostic-marker-of-survival-in-adrenocortical-cancer
#18
Anne Jouinot, Guillaume Assie, Rossella Libe, Martin Fassnacht, Thomas Papathomas, Olivia Barreau, Bruno DE LA Villeon, Simon Faillot, Nadim Hamzaoui, Mario Neou, Karine Perlemoine, Fernande Rene-Corail, Stéphanie Rodriguez, Mathilde Sibony, Frédérique Tissier, Bertrand Dousset, Silviu Sbiera, Cristina Ronchi, Matthias Kroiss, Esther Korpershoek, Ronald DE Krijger, Jens Waldmann, Detlef K Bartsch, Marcus Quinkler, Magalie Haissaguerre, Antoine Tabarin, Olivier Chabre, Nathalie Sturm, Michaela Luconi, Franco Mantero, Massimo Mannelli, Regis Cohen, Véronique Kerlan, Philippe Touraine, Gaelle Barrande, Lionel Groussin, Xavier Bertagna, Eric Baudin, Laurence Amar, Felix Beuschlein, Eric Clauser, Joel Coste, Jérôme Bertherat
CONTEXT: Adrenocortical cancer (ACC) is an aggressive tumor with heterogeneous outcome. Prognostic stratification is difficult even based on tumor stage and Ki67 index. Recently integrated genomics studies have demonstrated that CpG islands hypermethylation is correlated with poor survival. OBJECTIVE: To confirm the prognostic value of CpG islands methylation on an independent cohort with a single commonly available methylation assay. DESIGN: CpG islands methylation was measured by methylation-specific-multiplex-ligation-dependent-probe-amplification (MS-MLPA) using the ME002 kit (MRC-Holland)...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27957801/genomic-characterization-of-pediatric-b-lymphoblastic-lymphoma-and-b-lymphoblastic-leukemia-using-formalin-fixed-tissues
#19
Julia A Meyer, Delu Zhou, Clinton C Mason, Jonathan M Downie, Vladimir Rodic, Minnie Abromowitch, Birte Wistinghausen, Amanda M Termuhlen, Anne L Angiolillo, Sherrie L Perkins, Phillip Barnette, Joshua D Schiffman, Rodney R Miles
BACKGROUND: Recurrent genomic changes in B-lymphoblastic leukemia (B-ALL) identified by genome-wide single-nucleotide polymorphism (SNP) microarray analysis provide important prognostic information, but gene copy number analysis of its rare lymphoma counterpart, B-lymphoblastic lymphoma (B-LBL), is limited by the low incidence and lack of fresh tissue for genomic testing. PROCEDURE: We used molecular inversion probe (MIP) technology to analyze and compare copy number alterations (CNAs) in archival formalin-fixed paraffin-embedded pediatric B-LBL (n = 23) and B-ALL (n = 55)...
December 13, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27941564/paired-box-5-pax5-expression-in-poorly-differentiated-neuroendocrine-carcinoma-of-the-gastrointestinal-and-pancreatobiliary-tract-diagnostic-and-potentially-therapeutic-implications
#20
Sanaz Ainechi, Steven A Mann, Jingmei Lin, Deepa Patil, Christine E Sheehan, Zhaohai Yang, Chunlai Zuo, Hwajeong Lee
Paired Box 5 (PAX5), a well-established B-cell marker, is preferentially expressed in small cell lung carcinoma and regulates the transcription of c-Met, offering a potential for therapeutic target. Its expression in poorly differentiated neuroendocrine carcinoma (PDNEC) of the digestive system has not been systemically evaluated. Archived pathology materials from 38 PDNEC in the gastrointestinal (GI) and pancreatobiliary (PB) tract were reviewed. Representative tumor sections were subject to immunohistochemical stain for PAX5, c-Met, and CD20...
December 9, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
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