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https://www.readbyqxmd.com/read/28428239/mds-with-isolated-del-5q-and-internuclear-bridging
#1
Zhaodong Xu, Jean McGowan-Jordan
No abstract text is available yet for this article.
April 20, 2017: Blood
https://www.readbyqxmd.com/read/28419466/the-2016-revised-world-health-organization-definition-of-myelodysplastic-syndrome-with-isolated-del-5q-prognostic-implications-of-single-versus-double-cytogenetic-abnormalities
#2
Mark Gurney, Mrinal M Patnaik, Curtis A Hanson, Mark R Litzow, Aref Al-Kali, Rhett P Ketterling, Ayalew Tefferi, Naseema Gangat
The definition of the myelodysplastic syndrome (MDS) subtype 'MDS with isolated del(5q)' was expanded to include cases with one additional non-chromosome 7 based cytogenetic abnormality in the 2016 revised World Health Organization classification. This study applied the revised definition to a large primary MDS cohort, and evaluated the prognostic impact of the additional cytogenetic abnormality. Seventy-two of 1067 patients (7%) met the 'MDS with isolated del(5q)' criteria, 11 (1%) of whom had an additional cytogenetic abnormality...
April 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28415558/family-with-sequence-similarity-13c-fam13c-overexpression-is-an-independent-prognostic-marker-in-prostate-cancer
#3
Christoph Burdelski, Laura Borcherding, Martina Kluth, Claudia Hube-Magg, Nathaniel Melling, Ronald Simon, Christina Möller-Koop, Philipp Weigand, Sarah Minner, Alexander Haese, Hans Uwe Michl, Maria Christina Tsourlakis, Frank Jacobsen, Andrea Hinsch, Corinna Wittmer, Patrick Lebok, Stefan Steurer, Jakob R Izbicki, Guido Sauter, Till Krech, Franziska Büscheck, Till Clauditz, Thorsten Schlomm, Waldemar Wilczak
FAM13C, a gene with unknown function is included in several mRNA signatures for prostate cancer aggressiveness. To understand the impact of FAM13C on prognosis and its relationship to molecularly defined subsets, we analyzed FAM13C expression by immunohistochemistry on a tissue microarray containing 12,400 prostate cancer specimens. Results were compared to phenotype, ERG status, genomic deletions of 3p, 5q, 6q and PTEN, and biochemical recurrence. FAM13C was detectable in cell nuclei of cancerous and non-neoplastic prostate cells...
March 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413448/genetic-and-epigenetic-characterization-of-the-tumors-in-a-patient-with-a-tongue-primary-tumor-a-recurrence-and-a-pharyngoesophageal-second-primary-tumor
#4
Ilda P Ribeiro, Francisco Marques, Leonor Barroso, Jorge Miguéis, Francisco Caramelo, André Santos, Maria J Julião, Joana B Melo, Isabel M Carreira
BACKGROUND: The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, and the overall survival is lower when compared with patients with a single or first tumor. Identifying biomarkers that predict the risk of relapse and the response to treatment is an emerging clinical issue. CASE PRESENTATION: A Caucasian 49-years-old man was treated with chemotherapy followed by chemoradiotherapy for a primary left side tongue tumor, achieving a complete response...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28388552/myelodysplastic-syndromes-advantages-of-a-combined-cytogenetic-and-molecular-diagnostic-workup
#5
Elena Ciabatti, Angelo Valetto, Veronica Bertini, Maria Immacolata Ferreri, Alice Guazzelli, Susanna Grassi, Francesca Guerrini, Iacopo Petrini, Maria Rita Metelli, Maria Adelaide Caligo, Simona Rossi, Sara Galimberti
In this study we present a new diagnostic workup for the myelodysplastic syndromes (MDS) including FISH, aCGH, and somatic mutation assays in addition to the conventional cytogenetics (CC). We analyzed 61 patients by CC, FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations. Moreover, we quantified WT1 and RPS14 gene expression levels, in order to find their possible adjunctive value and their possible clinical impact. CC analysis showed 32% of patients with at least one aberration...
March 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28386122/epistasis-between-tifab-and-mir-146a-neighboring-genes-in-del-5q-myelodysplastic-syndrome
#6
M E Varney, K Choi, L Bolanos, S Christie, J Fang, H L Grimes, J P Maciejewski, J-I Inoue, D T Starczynowski
No abstract text is available yet for this article.
April 7, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28382840/strong-expression-and-amplification-of-igf1r-in-pleuropulmonary-blastomas
#7
Christian Vokuhl, Laura de Leon-Escapini, Ivo Leuschner
Pleuropulmonary blastoma (PPB) is a rare malignant intrathoracic tumor primarily affecting children under 5 years of age. PPBs are histologically divided into 3 subtypes: Type I PPBs are composed of multiple cysts, and type III is a solid lesion with a variable morphologic appearance. Type II has a mixed morphology consisting of cystic and solid areas. The genetics of PPB are poorly understood. We analyzed 16 cases of the Kiel Paediatric Tumor Registry with the diagnosis of PPB by comparative genomic hybridization and confirmed some genetic changes by fluorescence in situ hybridization...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28374540/antibacterial-and-anti-tubercular-evaluation-of-dihydronaphthalenone-indole-hybrid-analogues
#8
V Praveen Kumar, J Renjitha, Ct Fathimath Salfeena, K T Ashitha, Rangappa S Keri, Sunil Varughese, B S Sasidhar
A new series of indole appended dihydronaphthalenone hybrid analogues (5a-t) have been synthesized through the Lewis acid catalyzed Michael addition of indoles to the arylidene/hetero arylidene ketones. All the synthesized derivatives are well characterized through the (1) H-NMR, (13) C-NMR, HRMS spectroscopic techniques, compound 5r was further confirmed through single crystal X-ray analysis and screened for antibacterial and anti-tubercular activities. Among the synthesized compounds, the minimum inhibition concentration of 5l (against E...
April 4, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28374162/peripheral-blood-cytogenetics-allows-treatment-monitoring-and-early-identification-of-treatment-failure-to-lenalidomide-in-mds-patients-results-of-the-le-mon-5-trial
#9
Friederike Braulke, Xenia Schulz, Ulrich Germing, Esther Schuler, Uwe Platzbecker, Florian Nolte, Wolf-Karsten Hofmann, Aristoteles Giagounidis, Katharina Götze, Michael Lübbert, Richard F Schlenk, Julie Schanz, Ulrike Bacher, Arnold Ganser, Guntram Büsche, Anne Letsch, Philippe Schafhausen, Gesine Bug, Tim H Brümmendorf, Rainer Haas, Lorenz Trümper, Katayoon Shirneshan, Detlef Haase
Transfusion-dependent patients with low- or intermediate-1-risk myelodysplastic syndrome, <5% bone marrow (BM) blasts and isolated 5q-deletion received lenalidomide within the German MDS study group phase-II clinical trial LE-MON-5 (EudraCT:2008-001866-10) of the University of Duesseldorf, Germany. Cytogenetic monitoring was performed by chromosome banding analyses (CBA) of BM cells and fluorescence in situ hybridization (FISH) analyses of peripheral blood (PB) mononuclear CD34+ cells using extended probe panels...
April 3, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28351365/basal-like-breast-cancer-molecular-profiles-clinical-features-and-survival-outcomes
#10
Heloisa H Milioli, Inna Tishchenko, Carlos Riveros, Regina Berretta, Pablo Moscato
BACKGROUND: Basal-like constitutes an important molecular subtype of breast cancer characterised by an aggressive behaviour and a limited therapy response. The outcome of patients within this subtype is, however, divergent. Some individuals show an increased risk of dying in the first five years, and others a long-term survival of over ten years after the diagnosis. In this study, we aim at identifying markers associated with basal-like patients' survival and characterising subgroups with distinct disease outcome...
March 28, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28350519/outcome-of-lower-risk-patients-with-myelodysplastic-syndromes-without-5q-deletion-after-failure-of-erythropoiesis-stimulating-agents
#11
Sophie Park, Jean-François Hamel, Andrea Toma, Charikleia Kelaidi, Sylvain Thépot, Maria Diez Campelo, Valeria Santini, Mikkael A Sekeres, Enrico Balleari, Jennifer Kaivers, Rosa Sapena, Katharina Götze, Catharina Müller-Thomas, Odile Beyne-Rauzy, Aspasia Stamatoullas, Ioannis Kotsianidis, Rami Komrokji, David P Steensma, Jaime Fensterl, Gail J Roboz, Teresa Bernal, Fernando Ramos, Marisa Calabuig, Agnès Guerci-Bresler, Dominique Bordessoule, Pascale Cony-Makhoul, Stéphane Cheze, Eric Wattel, Christian Rose, Norbert Vey, Daniela Gioia, Dario Ferrero, Gianluca Gaidano, Giovanni Cametti, Fabrizio Pane, Alessandro Sanna, Ulrich Germing, Guillermo F Sanz, François Dreyfus, Pierre Fenaux
Purpose Most anemic patients with non-deleted 5q lower-risk myelodysplastic syndromes (MDS) are treated with erythropoiesis-stimulating agents (ESAs), with a response rate of approximately 50%. Second-line treatments, including hypomethylating agents (HMAs), lenalidomide (LEN), and investigational drugs, may be used after ESA failure in some countries, but their effect on disease progression and overall survival (OS) is unknown. Here, we analyzed outcome after ESA failure and the effect of second-line treatments...
March 28, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28338652/3q26-2-evi1-rearrangement-is-associated-with-poor-prognosis-in-classical-philadelphia-chromosome-negative-myeloproliferative-neoplasms
#12
Zhihong Hu, L Jeffrey Medeiros, Wei Wang, Zi Chen, Guilin Tang, Parsa Hodjat, Su Yang, Lianghua Fang, Yan Li, Srdan Verstovsek, Shimin Hu
Classical Philadelphia chromosome-negative myeloproliferative neoplasms are a group of closely related myeloid disorders with different histologic features and clinical presentations at an early stage, but all later develop into a similar fibrotic stage with variable risk of acute transformation. The significance of 3q26.2/EVI1 rearrangement has been well recognized in acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28324772/new-proposals-of-the-who-working-group-2016-for-the-diagnosis-of-myelodysplastic-syndromes-mds-characteristics-of-refined-mds-types
#13
Corinna Strupp, Kathrin Nachtkamp, Barbara Hildebrandt, Aristoteles Giagounidis, Rainer Haas, Norbert Gattermann, John M Bennett, Carlo Aul, Ulrich Germing
Based on centrally diagnosed 3528 patients in the Düsseldorf registry, we validated the new proposals for the classification of the MDS by the WHO working group: 256 patients were diagnosed as MDSSLD (7,3%), 978 MDSMLD (27,7%), 227 MDS RS SLD (6,4%); 321 MDS RS MLD (9,1%), 159 MDS del(5q) (4,5%), 481 MDSEB 1 (13,6%), 620 MDSEB 2 (17,6%), and 148 MDS-U (4,2%). 352 patients (16,9% of the non blastic types) changed the category, mainly moving from RCMD to MDS RS MLD, RCUD and RCMD to MDS del(5q). Median survival times of the refined groups differed from more than 60 months in the MDSSLD (RS) groups, 37 months in the MDSMLD (RS) groups, 79 months of the MDS del(5q) group and 21 and 11 months in the MDSEB 1 and 2 groups, respectively...
February 27, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28294297/cryptic-5q-deletion-in-a-patient-with-myelodysplastic-syndrome
#14
Ruth Medlock, Sharon Barrans, Catherine Cargo, Richard Kelly
No abstract text is available yet for this article.
May 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28282546/overexpression-of-the-a-disintegrin-and-metalloproteinase-adam15-is-linked-to-a-small-but-highly-aggressive-subset-of-prostate-cancers
#15
Christoph Burdelski, Michael Fitzner, Claudia Hube-Magg, Martina Kluth, Asmus Heumann, Ronald Simon, Till Krech, Till Clauditz, Franziska Büscheck, Stefan Steurer, Corinna Wittmer, Andrea Hinsch, Andreas M Luebke, Frank Jacobsen, Sarah Minner, Maria Christina Tsourlakis, Burkhard Beyer, Thomas Steuber, Imke Thederan, Guido Sauter, Jakob Izbicki, Thorsten Schlomm, Waldemar Wilczak
The A Disintegrin and Metalloproteinase (ADAM) family of endopeptidases plays a role in many solid cancers and includes promising targets for anticancer therapies. Deregulation of ADAM15 has been linked to tumor aggressiveness and cell line studies suggest that ADAM15 overexpression may also be implicated in prostate cancer. To evaluate the impact of ADAM15 expression and its relationship with key genomic alterations, a tissue microarray containing 12,427 prostate cancers was analyzed by immunohistochemistry...
April 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28281318/intracranial-myxoid-mesenchymal-tumors-with-ewsr1-creb-family-gene-fusions-myxoid-variant-of-angiomatoid-fibrous-histiocytoma-or-novel-entity
#16
Tejus A Bale, Angelica Oviedo, Harry Kozakewich, Caterina Giannini, Phani K Davineni, Keith Ligon, Sanda Alexandrescu
Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of genes was recently described, and it resembles the myxoid variant of angiomatoid fibrous histiocytoma. We present three pediatric patients with intracranial EWSR1-rearranged myxoid mesenchymal neoplasm and provide a molecular genetic characterization of these tumors. Clinical histories and imaging results were reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS) were performed...
March 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28279041/-clinical-analyses-of-50-cases-of-myelodysplastic-syndrome-with-deletion-of-chromosome-5q
#17
Y He, X Du, J Y Weng, C X Deng, S X Geng, Z S Lu, M M Li, P J Liao, C W Luo, S J Wu, L Y Zhong
No abstract text is available yet for this article.
February 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28278708/myelodysplastic-syndrome-with-concomitant-del-5q-and-jak2-v617f-mutation-transformed-to-acute-myeloid-leukemia-with-an-additional-chromosomal-abnormality-after-a-long-term-treatment-with-lenalidomide
#18
https://www.readbyqxmd.com/read/28261852/acute-leukemia-with-a-pure-erythroid-phenotype-underrecognized-morphologic-and-cytogenetic-signatures-universally-associated-with-primary-refractory-disease-and-a-dismal-clinical-outcome
#19
David C Park, Neval Ozkaya, Scott B Lovitch
AIMS: Pure erythroid leukemia (PEL) is a very rare and aggressive subtype of acute myeloid leukemia defined by the World Health Organization (WHO) as a neoplastic proliferation of immature cells committed exclusively to the erythroid lineage comprising >80% of bone marrow cells and not meeting criteria of other well-defined myeloid neoplasms. The aim of this study was to describe the clinicopathologic features of acute leukemias with a pure erythroid phenotype (ALPEP) irrespective of their WHO classification and determine if ALPEP represents a distinct clinicopathologic entity...
March 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28260960/clinical-hematological-and-cytogenetic-profile-of-adult-myelodysplastic-syndrome-in-a-tertiary-care-center
#20
Santhosh Narayanan
BACKGROUND: Myelodysplastic syndrome (MDS), a disorder of clonal hematopoiesis, is an important clinical entity, but most of the studies available are conducted among the Western population. Its etiological factors and clinicohematological profile in the Indian population are quite diverse. The information regarding its prognostic factors and cytogenetics is very scarce. OBJECTIVES: (1) To assess the clinicohematological profile, cytogenetics, prognostic factors, and outcome of MDS and (2) to study its progression to acute myeloid leukemia (AML) in the selected patients over the study period...
2017: Journal of Blood Medicine
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