keyword
MENU ▼
Read by QxMD icon Read
search

Etv6

keyword
https://www.readbyqxmd.com/read/28219927/molecular-role-of-the-pax5-etv6-oncoprotein-in-promoting-b-cell-acute-lymphoblastic-leukemia
#1
Leonie Smeenk, Maria Fischer, Sabine Jurado, Markus Jaritz, Anna Azaryan, Barbara Werner, Mareike Roth, Johannes Zuber, Martin Stanulla, Monique L den Boer, Charles G Mullighan, Sabine Strehl, Meinrad Busslinger
PAX5 is a tumor suppressor in B-ALL, while the role of PAX5 fusion proteins in B-ALL development is largely unknown. Here, we studied the function of PAX5-ETV6 and PAX5-FOXP1 in mice expressing these proteins from the Pax5 locus. Both proteins arrested B-lymphopoiesis at the pro-B to pre-B-cell transition and, contrary to their proposed dominant-negative role, did not interfere with the expression of most regulated Pax5 target genes. Pax5-Etv6, but not Pax5-Foxp1, cooperated with loss of the Cdkna2a/b tumor suppressors in promoting B-ALL development...
February 20, 2017: EMBO Journal
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/28187034/detection-of-novel-t-12-17-p12-p13-in-relapsed-refractory-acute-myeloid-leukemia-by-anchored-multiplex-pcr-amp-based-next-generation-sequencing
#3
Talha Badar, Laura Johnson, Katelyn Trifilo, Helen Wang, Brian A Kudlow, Eric Padron, Peter R Pappenhausen, Mohammad O Hussaini
Although several technologies can be used to detect gene fusions, anchored multiplex PCR next-generation sequencing (AMP-NGS) offers the advantage of novel fusion detection and the ability to multiplex multitudinous genes. We applied AMP-NGS technology in the evaluation of a 56-year-old gentleman with myelodysplastic syndrome transformed acute myeloid leukemia (AML). Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy...
February 9, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28129329/space-time-clustering-of-childhood-leukemia-evidence-of-an-association-with-etv6-runx1-tel-aml1-fusion
#4
Christian Kreis, Judith E Lupatsch, Felix Niggli, Matthias Egger, Claudia E Kuehni, Ben D Spycher
BACKGROUND: Many studies have observed space-time clustering of childhood leukemia (CL) yet few have attempted to elicit etiological clues from such clustering. We recently reported space-time clustering of CL around birth, and now aim to generate etiological hypotheses by comparing clustered and nonclustered cases. We also investigated whether the clustering resulted from many small aggregations of cases or from a few larger clusters. METHODS: We identified cases of persons born and diagnosed between 1985 and 2014 at age 0-15 years from the Swiss Childhood Cancer Registry...
2017: PloS One
https://www.readbyqxmd.com/read/28125451/clinical-and-morphologic-features-of-etv6-ntrk3-translocated-papillary-thyroid-carcinoma-in-an-adult-population-without-radiation-exposure
#5
Raja R Seethala, Simion I Chiosea, Cheng Z Liu, Marina Nikiforova, Yuri E Nikiforov
The ETV6-NTRK3 translocation characterizes a subset of radiation associated and pediatric papillary thyroid carcinomas (PTCs). We now describe the clinicopathologic features of ETV6-NTRK3 translocated PTC in an adult population without radiation exposure. Twelve cases were identified by next-generation sequencing (ThyroSeq version 2). The mean patient age was 37 years with a female predilection (10:2). Preoperative fine needle aspiration was performed on 6 patients of which 4 were classified as "malignant," whereas 2 were classified as "follicular lesion of undetermined significance...
January 25, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28123940/genome-wide-dna-promoter-methylation-and-transcriptome-analysis-in-human-adipose-tissue-unravels-novel-candidate-genes-for-obesity
#6
Maria Keller, Lydia Hopp, Xuanshi Liu, Tobias Wohland, Kerstin Rohde, Raffaella Cancello, Matthias Klös, Karl Bacos, Matthias Kern, Fabian Eichelmann, Arne Dietrich, Michael R Schön, Daniel Gärtner, Tobias Lohmann, Miriam Dreßler, Michael Stumvoll, Peter Kovacs, Anna-Maria DiBlasio, Charlotte Ling, Hans Binder, Matthias Blüher, Yvonne Böttcher
OBJECTIVE/METHODS: DNA methylation plays an important role in obesity and related metabolic complications. We examined genome-wide DNA promoter methylation along with mRNA profiles in paired samples of human subcutaneous adipose tissue (SAT) and omental visceral adipose tissue (OVAT) from non-obese vs. obese individuals. RESULTS: We identified negatively correlated methylation and expression of several obesity-associated genes in our discovery dataset and in silico replicated ETV6 in two independent cohorts...
January 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28097808/identification-of-ntrk-fusions-in-pediatric-mesenchymal-tumors
#7
Dean Pavlick, Alexa B Schrock, Denise Malicki, Philip J Stephens, Dennis J Kuo, Hyunah Ahn, Brian Turpin, Kamran Badizegan, Jeffrey S Ross, Vincent A Miller, Victor Wong, Siraj M Ali
BACKGROUND: NTRK fusions are known oncogenic drivers and have recently been effectively targeted by investigational agents in adults. We sought to assess the frequency of NTRK fusions in a large series of pediatric and adolescent patients with advanced cancers. PROCEDURE: Genomic profiles from 2,031 advanced cancers from patients less than 21 years old who were assayed with comprehensive genomic profiling were reviewed to identify NTRK fusions. RESULTS: Total of nine cases (0...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28076810/dna-occupancy-of-polymerizing-transcription-factors-a-chemical-model-of-the-ets-family-factor-yan
#8
C Matthew Hope, Ilaria Rebay, John Reinitz
Transcription factors use both protein-DNA and protein-protein interactions to assemble appropriate complexes to regulate gene expression. Although most transcription factors operate as monomers or dimers, a few, including the E26 transformation-specific family repressors Drosophila melanogaster Yan and its human homolog TEL/ETV6, can polymerize. Although polymerization is required for both the normal and oncogenic function of Yan and TEL/ETV6, the mechanisms by which it influences the recruitment, organization, and stability of transcriptional complexes remain poorly understood...
January 10, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28072974/-clinicopathologic-features-of-mammary-analogue-secretory-carcinoma-of-salivary-glands
#9
X P Zhang, H Ni, X Wang, H Chen, S S Shi, B Yu, X J Zhou, Q Rao
Objective: To investigate the clinicopathological features of mammary analogue secretory carcinoma (MASC) of salivary glands, and its diagnosis, differential diagnosis, immunohistochemistry and molecular pathology. Methods: Seventeen cases of MASC were enrolled, with 9 cases of salivary acinar cell carcinoma and 18 cases of adenoid cystic carcinoma as control groups from Nanjing General Hospital from 1997 to 2014 were included in this retrospective study, combined with immunohistochemistry and molecular detection of ETV6-NTRK3 gene fusion...
January 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28063722/concordance-of-two-approaches-in-monitoring-of-minimal-residual-disease-in-b-precursor-acute-lymphoblastic-leukemia-fusion-transcripts-and-leukemia-associated-immunophenotypes
#10
Ying-Jung Huang, Elaine Coustan-Smith, Hsiao-Wen Kao, Hsi-Che Liu, Shih-Hsiang Chen, Chih-Cheng Hsiao, Chao-Ping Yang, Tang-Her Jaing, Ting-Chi Yeh, Ming-Chung Kuo, Chang-Liang Lai, Chia-Hui Chang, Dario Campana, Der-Cherng Liang, Lee-Yung Shih
BACKGROUND: Real-time quantitative polymerase chain reaction (RQ-PCR) for fusion transcripts and flow cytometry for leukemia-specific markers are widely used for minimal residual disease (MRD) detection in acute lymphoblastic leukemia, but the relation between the results of either method is unclear. METHODS: Mononucleated cells from 108 bone marrow samples collected from 55 B-precursor acute lymphoblastic leukemia patients (30 with t(12;21)/ETV6-RUNX1, 16 with t(9;22)/BCR-ABL1 and nine with t(1;19)/TCF3-PBX1) were examined in tandem by RQ-PCR and six-color flow cytometry...
January 4, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28063378/overexpression-of-ptp4a3-in-etv6-runx1-acute-lymphoblastic-leukemia
#11
Toni Grönroos, Susanna Teppo, Juha Mehtonen, Saara Laukkanen, Thomas Liuksiala, Matti Nykter, Merja Heinäniemi, Olli Lohi
Cell signalling, which is often derailed in cancer, is a network of multiple interconnected pathways with numerous feedback mechanisms. Dynamics of cell signalling is intimately regulated by addition and removal of phosphate groups by kinases and phosphatases. We examined expression of members of the PTP4A family of phosphatases across acute leukemias. While expression of PTP4A1 and PTP4A2 remained relatively unchanged across diseases, PTP4A3 showed marked overexpression in ETV6-RUNX1 and BCR-ABL1 subtypes of precursor B cell acute lymphoblastic leukemia...
December 26, 2016: Leukemia Research
https://www.readbyqxmd.com/read/28060365/newly-described-salivary-gland-tumors
#12
Alena Skalova, Michal Michal, Roderick Hw Simpson
This review concentrates on three salivary gland tumors that have been accepted in the recent literature as new neoplastic entities: mammary analog secretory carcinoma (MASC), sclerosing polycystic adenoma (SPA) and cribriform adenocarcinoma of tongue and other minor salivary glands (CAMSGs). MASC is a distinctive low-grade malignant salivary cancer that harbors a characteristic chromosomal translocation, t(12;15) (p13;q25) resulting in an ETV6-NTRK3 fusion. SPA is a rare lesion often mistaken histologically for low-grade salivary carcinoma...
January 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28060340/reprogramming-mouse-embryonic-fibroblasts-with-transcription-factors-to-induce-a-hemogenic-program
#13
Michael G Daniel, Carlos-Filipe Pereira, Jeffrey M Bernitz, Ihor R Lemischka, Kateri Moore
This protocol details the induction of a hemogenic program in mouse embryonic fibroblasts (MEFs) via overexpression of transcription factors (TFs). We first designed a reporter screen using MEFs from human CD34-tTA/TetO-H2BGFP (34/H2BGFP) double transgenic mice. CD34(+) cells from these mice label H2B histones with GFP, and cease labeling upon addition of doxycycline (DOX). MEFS were transduced with candidate TFs and then observed for the emergence of GFP(+) cells that would indicate the acquisition of a hematopoietic or endothelial cell fate...
December 16, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28059097/fibrous-hamartoma-of-infancy-a-clinicopathologic-study-of-145-cases-including-2-with-sarcomatous-features
#14
Alyaa Al-Ibraheemi, Anthony Martinez, Sharon W Weiss, Harry P Kozakewich, Antonio R Perez-Atayde, Henry Tran, David M Parham, William R Sukov, Karen J Fritchie, Andrew L Folpe
Fibrous hamartoma of infancy is a rare soft tissue lesion of infants and young children with characteristic triphasic morphology, which typically occurs in the axilla and less commonly in other locations. We reviewed 145 cases of fibrous hamartoma of infancy from our consultation archives. Cases occurred in 106 males and 39 females (mean age-15 months; range-birth to 14 years), and involved both typical sites (eg, axilla/back/upper arm) (n=69) and unusual locations (n=76). Six were congenital. The tumors presented as subcutaneous masses and ranged from 0...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28028030/myeloid-neoplasms-with-eosinophilia
#15
REVIEW
Andreas Reiter, Jason Gotlib
Molecular diagnostics has generated substantial dividends in dissecting the genetic basis of myeloid neoplasms with eosinophilia. The family of diseases generated by dysregulated fusion tyrosine kinase (TK) genes is recognized by the World Health Organization (WHO) category, "Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" In addition to myeloproliferative neoplasms (MPN), these patients can present with myelodysplastic syndrome/MPN, as well as de novo or secondary mixed-phenotype leukemias or lymphomas...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/28018804/extracalvarial-composite-infantile-myofibromatosis-case-report-and-literature-review
#16
Alexander Ivanov, Tibor Valyi-Nagy, Dimitrios Nikas
Infantile soft tissue tumors of the head are very rare and the majority of them are myofibromas. The authors present the case of a 1-day-old boy with a scalp tumor with several distinct histopathological features including myofibroma, hemangiopericytoma, and fibrosarcoma consistent with the diagnosis of composite infantile myofibromatosis. Genetic testing was negative for trisomy 17, translocation (12; 15), FUS, and ETV6 translocations. Despite the ominous histopathological features, the clinical course was benign...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28010895/platelet-derived-growth-factor-receptors-pdgfrs-fusion-genes-involvement-in-hematological-malignancies
#17
REVIEW
Kwaku Appiah-Kubi, Ting Lan, Ying Wang, Hai Qian, Min Wu, Xiaoyuan Yao, Yan Wu, Yongchang Chen
PURPOSE: To investigate oncogenic platelet-derived growth factor receptor(PDGFR) fusion genes involvement in hematological malignancies, the advances in the PDGFR fusion genes diagnosis and development of PDGFR fusions inhibitors. METHODS: Literature search was done using terms "PDGFR and Fusion" or "PDGFR and Myeloid neoplasm" or 'PDGFR and Lymphoid neoplasm' or "PDGFR Fusion Diagnosis" or "PDGFR Fusion Targets" in databases including PubMed, ASCO.org, and Medscape...
January 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28004528/minimal-residual-disease-monitoring-in-childhood-b-lymphoblastic-leukemia-with-t-12-21-p13-q22-etv6-runx1-concordant-results-using-quantitation-of-fusion-transcript-and-flow-cytometry
#18
S J Alm, C Engvall, J Asp, L Palmqvist, J Abrahamsson, L Fogelstrand
INTRODUCTION: The translocation t(12;21)(p13;q22) resulting in the fusion gene ETV6-RUNX1, is the most frequent gene fusion in childhood B lymphoblastic leukemia. In the Nordic Society of Paediatric Haematology and Oncology ALL-2008 treatment protocol, treatment stratification in B-lineage ALL is based on results of minimal residual disease (MRD) analysis with fluorescence-activated cell sorting (FACS). In this study, we determined whether RT-qPCR of the ETV6-RUNX1 fusion transcript can be a reliable alternative for MRD analysis...
December 22, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27974047/fgfr1-and-ntrk3-actionable-alterations-in-wild-type-gastrointestinal-stromal-tumors
#19
Eileen Shi, Juliann Chmielecki, Chih-Min Tang, Kai Wang, Michael C Heinrich, Guhyun Kang, Christopher L Corless, David Hong, Katherine E Fero, James D Murphy, Paul T Fanta, Siraj M Ali, Martina De Siena, Adam M Burgoyne, Sujana Movva, Lisa Madlensky, Gregory M Heestand, Jonathan C Trent, Razelle Kurzrock, Deborah Morosini, Jeffrey S Ross, Olivier Harismendy, Jason K Sicklick
BACKGROUND: About 10-15% of adult, and most pediatric, gastrointestinal stromal tumors (GIST) lack mutations in KIT, PDGFRA, SDHx, or RAS pathway components (KRAS, BRAF, NF1). The identification of additional mutated genes in this rare subset of tumors can have important clinical benefit to identify altered biological pathways and select targeted therapies. METHODS: We performed comprehensive genomic profiling (CGP) for coding regions in more than 300 cancer-related genes of 186 GISTs to assess for their somatic alterations...
December 14, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#20
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
keyword
keyword
36176
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"