keyword
MENU ▼
Read by QxMD icon Read
search

Cll genetics

keyword
https://www.readbyqxmd.com/read/28694085/baseline-characteristics-predicting-very-good-outcome-of-allogeneic-hematopoietic-cell-transplantation-in-young-patients-with-high-cytogenetic-risk-chronic-lymphocytic-leukemia%C3%A2-a-retrospective-analysis-from-the-chronic-malignancies-working-party-of-the-ebmt
#1
Michel van Gelder, Dimitris Ziagkos, Liesbeth de Wreede, Anja van Biezen, Peter Dreger, Martin Gramatzki, Matthias Stelljes, Niels Smedegaard Andersen, Nicolaas Schaap, Antonin Vitek, Dietrich Beelen, Vesa Lindström, Jürgen Finke, Jacob Passweg, Matthias Eder, Maciej Machaczka, Julio Delgado, William Krüger, Luděk Raida, Gerard Socié, Pavel Jindra, Boris Afanasyev, Eva Wagner, Yves Chalandon, Anja Henseler, Stefan Schoenland, Nicolaus Kröger, Johannes Schetelig
BACKGROUND: Patients with genetically high-risk relapsed/refractory chronic lymphocytic leukemia have shorter median progression-free survival (PFS) with kinase- and BCL2-inhibitors (KI, BCL2i). Allogeneic hematopoietic stem cell transplantation (alloHCT) may result in sustained PFS, especially in younger patients because of its age-dependent non-relapse mortality (NRM) risk, but outcome data are lacking for this population. PATIENTS AND METHODS: Risk factors for 2-year NRM and 8-year PFS were identified in patients < 50 years in an updated European Society for Blood and Marrow Transplantation registry cohort (n = 197; median follow-up, 90...
June 17, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28680761/the-splenic-marginal-zone-shapes-the-phenotype-of-leukemia-b-cells-and-facilitates-their-niche-specific-retention-and-survival
#2
Vanessa Stache, Lydia Verlaat, Marcel Gätjen, Kristina Heinig, Jörg Westermann, Armin Rehm, Uta E Höpken
Microenvironmental regulation in lymphoid tissues is essential for the development of chronic lymphocytic leukemia. We identified cellular and molecular factors provided by the splenic marginal zone (MZ), which alter the migratory and adhesive behavior of leukemic cells. We used the Cxcr5(-/-)Eµ-Tcl1 leukemia mouse model, in which tumor cells are excluded from B cell follicles and instead accumulate within the MZ. Genes involved in MZ B cell development and genes encoding for adhesion molecules were upregulated in MZ-localized Cxcr5(-/-)Eµ-Tcl1 cells...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28679620/integrated-single-cell-genetic-and-transcriptional-analysis-suggests-novel-drivers-of-chronic-lymphocytic-leukemia
#3
Lili Wang, Jean Fan, Joshua M Francis, George Georghiou, Sarah Hergert, Shuqiang Li, Rutendo Gambe, Chensheng W Zhou, Chunxiao Yang, Sheng Xiao, Paola Dal Cin, Michaela Bowden, Dylan Kotliar, Sachet A Shukla, Jennifer R Brown, Donna Neuberg, Dario R Alessi, Cheng-Zhong Zhang, Peter V Kharchenko, Kenneth J Livak, Catherine J Wu
Intra-tumoral genetic heterogeneity has been characterized across cancers by genome sequencing of bulk tumors, including chronic lymphocytic leukemia (CLL). In order to more accurately identify subclones, define phylogenetic relationships, and probe genotype-phenotype relationships, we developed methods for targeted mutation detection in DNA and RNA isolated from thousands of single cells from five CLL samples. By clearly resolving phylogenic relationships, we uncovered mutated LCP1 and WNK1 as novel CLL drivers, supported by functional evidence demonstrating their impact on CLL pathways...
July 5, 2017: Genome Research
https://www.readbyqxmd.com/read/28666010/dysregulation-of-h-aca-ribonucleoprotein-components-in-chronic-lymphocytic-leukemia
#4
Patricia Carolina Dos Santos, Julieta Panero, Carmen Stanganelli, Virginia Palau Nagore, Flavia Stella, Raimundo Bezares, Irma Slavutsky
Telomeres are protective repeats of TTAGGG sequences located at the end of human chromosomes. They are essential to maintain chromosomal integrity and genome stability. Telomerase is a ribonucleoprotein complex containing an internal RNA template (hTR) and a catalytic subunit (hTERT). The human hTR gene consists of three major domains; among them the H/ACA domain is essential for telomere biogenesis. H/ACA ribonucleoprotein (RNP) complex is composed of four evolutionary conserved proteins, including dyskerin (encoded by DKC1 gene), NOP10, NHP2 and GAR1...
2017: PloS One
https://www.readbyqxmd.com/read/28644154/acute-promyelocytic-leukemia-and-chronic-lymphocytic-leukemia-concomitant-presentation-of-two-molecularly-distinct-entities
#5
Jingdong Su, Diana Veillon, Rodney Shackelford, James Cotelingam, Hazem El-Osta, Glenn Mills, Reinhold Munker, Srinivas Devarakonda
Acute myeloid leukemia (AML) developing in patients with chronic lymphocytic leukemia (CLL) is very uncommon and usually associated with prior treatment. Acute promyelocytic leukemia (APL) accounts for a very small proportion of treatment-associated AML. So far, there has been only one reported case of APL occurring post radiation for prostate cancer in a patient with CLL. We report herein the first case of APL and CLL presenting concomitantly in an untreated patient. Evaluation of peripheral blood and bone marrow aspirate with immunohistochemistry, flow cytometry, and FISH to confirm two morphologically, molecularly and genetically distinct leukemic populations characteristic of APL and CLL is required...
May 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28641468/association-between-immunoglobulin-heavy-chain-variable-region-mutational-status-and-isolated-favorable-baseline-genomic-aberrations-in-chronic-lymphocytic-leukemia
#6
Jose D Sandoval-Sus, Julio C Chavez, Samir Dalia, Syeda Mahrukh Hussnain Naqvi, Chetasi Talati, Lisa Nodzon, Mohamed A Kharfan-Dabaja, Javier Pinilla-Ibarz
Immunoglobulin heavy-chain variable region (IGHV) mutational status and karyotype abnormalities are important prognostic factors in chronic lymphocytic leukemia (CLL). The goal was to assess the impact of IGHV in CLL patients with isolated favorable genetic aberrations (del13q, trisomy 12, or negative fluorescence in situ hybridization [FISH]). We studied 273 CLL patients with both IGHV mutational status and cytogenetic information: 145 with isolated del13q 49 with sole trisomy 12 and 79 with negative FISH...
June 22, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28603911/cd11c-expression-in-chronic-lymphocytic-leukemia-revisited-related-with-complications-and-survival
#7
E G Umit, M Baysal, Y Durmus, A M Demir
INTRODUCTION: Chronic lymphocytic leukemia (CLL) is a disorder of mature but dysfunctional monoclonal B cells. Microenvironment, antigenic stimulation and genetical mutations are demonstrated in etiopathogenesis. We aimed to evaluate the expression of CD11c in patients with CLL and its possible clinical significance. METHODS: Data of 259 patients with CLL between 2010 and 2016 in Trakya University Faculty of Medicine, including age at diagnosis, sex, whole blood count, stage, percentage of CLL cells in bone marrow, line of treatments, development of Richter's transformation and secondary tumors, autoimmune complications, IgG level, prognostic cytogenetic analysis, and length of survival were recorded from files...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28600336/diagnosis-and-classification-of-hematologic-malignancies-on-the-basis-of-genetics
#8
Justin Taylor, Wenbin Xiao, Omar Abdel-Wahab
Genomic analysis has greatly influenced the diagnosis and clinical management of patients affected by diverse forms of hematologic malignancies. Here we review how genetic alterations define subclasses of patients with acute leukemias, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), non-Hodgkin lymphomas and classical Hodgkin lymphoma. These include new subtypes of acute myeloid leukemia defined by mutations in RUNX1 or BCR-ABL1 translocations as well as a constellation of somatic structural DNA alterations in acute lymphoblastic leukemia...
June 9, 2017: Blood
https://www.readbyqxmd.com/read/28584254/whole-genome-sequencing-of-chronic-lymphocytic-leukemia-reveals-distinct-differences-in-the-mutational-landscape-between-ighv-mut-and-ighv-unmut-subgroups
#9
A Burns, R Alsolami, J Becq, A Timbs, D Bruce, P Robbe, D Vavoulis, M Cabes, H Dreau, J Taylor, S J L Knight, R Mansson, D Bentley, R Beekman, J I Martín-Subero, E Campo, R S Houlston, K E Ridout, A Schuh
Chronic lymphocytic leukemia (CLL) consists of two biologically and clinically distinct subtypes defined by the abundance of somatic hypermutation (SHM) affecting the Ig variable heavy chain locus (IgHV). The molecular mechanisms underlying these subtypes are incompletely understood. Here, we present a comprehensive whole genome sequencing (WGS) analysis of somatically acquired genetic events from 46 CLL patients, including a systematic comparison of coding and non-coding SNVs, CNVs and structural variants, regions of kataegis and mutation signatures between IgHV(mut) and IgHV(unmut) subtypes...
June 6, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28583051/monoclonal-b-cell-lymphocytosis-in-blood-donors-in-turkey
#10
Münci Yağcı, Zeynep Arzu Yegin, İdil Yenicesu, Elif Suyanı, Bahar Uncu Ulu, Kamil İnci, Zeynep Çetin, Zeynep Yılmaz, Nevruz Kurşunoğlu, Zübeyde Nur Özkurt
OBJECTIVES: Monoclonal B-cell lymphocytosis (MBL) is a precursor state of chronic lymphocytic leukemia (CLL) with peripheral lymphocytosis below 5 × 10(9)/l. The diagnostic criteria exclude the presence of lymphadenopathy, organomegaly, infections, autoimmune diseases or any sign of a lymphoproliferative disorder. This prospective study was designed in order to evaluate the frequency of MBL in blood donors in Turkey. METHODS: The diagnosis of MBL was identified by flow cytometry method based on the International Familial CLL Consortium Report...
June 5, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28580304/significance-of-inactivated-genes-in-leukemia-pathogenesis-and-prognosis
#11
REVIEW
Nazanin Heidari, Saeid Abroun, Jessika Bertacchini, Tina Vosoughi, Fakher Rahim, Najmaldin Saki
Epigenetic and genetic alterations are two mechanisms participating in leukemia, which can inactivate genes involved in leukemia pathogenesis or progression. The purpose of this review was to introduce various inactivated genes and evaluate their possible role in leukemia pathogenesis and prognosis. By searching the mesh words "Gene, Silencing AND Leukemia" in PubMed website, relevant English articles dealt with human subjects as of 2000 were included in this study. Gene inactivation in leukemia is largely mediated by promoter's hypermethylation of gene involving in cellular functions such as cell cycle, apoptosis, and gene transcription...
2017: Cell Journal
https://www.readbyqxmd.com/read/28578024/hexamerization-enhanced-cd20-antibody-mediates-complement-dependent-cytotoxicity-in-serum-genetically-deficient-in-c9
#12
Ronald P Taylor, Margaret A Lindorfer, Erika M Cook, Frank J Beurskens, Janine Schuurman, Paul W H I Parren, Clive S Zent, Karl R VanDerMeid, Richard Burack, Masashi Mizuno, B Paul Morgan
We examined complement-dependent cytotoxicity (CDC) by hexamer formation-enhanced CD20 mAb Hx-7D8 of patient-derived chronic lymphocytic leukemia (CLL) cells that are relatively resistant to CDC. CDC was analyzed in normal human serum (NHS) and serum from an individual genetically deficient for C9. Hx-7D8 was able to kill up to 80% of CLL cells in complete absence of C9. We conclude that the narrow C5b-8 pores formed without C9 are sufficient for CDC due to efficient antibody-mediated hexamer formation. In the absence of C9, we observed transient intracellular increases of Ca(2+) during CDC (as assessed with FLUO-4) that were extended in time...
May 31, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28570130/an-integrative-computational-approach-to-evaluate-genetic-markers-for-chronic-lymphocytic-leukemia
#13
Yu Zheng, Xiaoyang Li, Lydia C Manor, Hongbao Cao, Qiusheng Chen
Recent studies reported hundreds of genes linked to chronic lymphocytic leukemia (CLL). However, many of these candidate genes were lack of replication and results were not always consistent. Here, we proposed a computational workflow to curate and evaluate CLL-related genes. The method integrates large-scale literature knowledge data, gene expression data, and related pathways/network information for quantitative marker evaluation. Pathway Enrichment, Sub-Network Enrichment, and Gene-Gene Interaction analysis were conducted to study the pathogenic profile of the candidate genes, with four metrics proposed and validated for each gene...
June 1, 2017: Journal of Computational Biology: a Journal of Computational Molecular Cell Biology
https://www.readbyqxmd.com/read/28536495/serum-ldh-level-may-predict-outcome-of-chronic-lymphocytic-leukemia-patients-with-a-17p-deletion-a-retrospective-analysis-of-prognostic-factors-in-china
#14
Heng Li, Wenjie Xiong, Huimin Liu, Shuhua Yi, Zhen Yu, Wei Liu, Rui Lyu, Tingyu Wang, Dehui Zou, Zengjun Li, Lugui Qiu
OBJECTIVE: This study aims to evaluate the natural history of patients with chronic lymphocytic leukemia (CLL) and a 17p deletion (17p-) and identify the predictive factors within this subgroup. METHODS: The sample of patients with CLL were analyzed by fluorescencein situ hybridization for deletions in chromosome bands 11q22, 13q14 and 17p13; trisomy of bands 12q13; and translocation involving band 14q32. The data from 456 patients with or without a 17p- were retrospectively collected and analyzed...
April 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/28536306/chronic-lymphocytic-leukemia-with-mutated-ighv4-34-receptors-shared-and-distinct-immunogenetic-features-and-clinical-outcomes
#15
Aliki Xochelli, Panagiotis Baliakas, Ioannis Kavakiotis, Andreas Agathangelidis, Lesley-Ann Sutton, Eva Minga, Stavroula Ntoufa, Eugen Tausch, Xiao-Jie Yan, Tait D Shanafelt, Karla Plevova, Myriam Boudjogra, Davide Rossi, Zadie Davis, Alba Navarro, Yorick Sandberg, Fie Juhl Vojdeman, Lydia Scarfò, Niki Stavroyianni, Andrey Sudarikov, Silvio Veronese, Tatiana Tzenou, Teodora Karan Djurasevic, Mark A Catherwood, Dirk Kienle, Maria Chatzouli, Monica Facco, Jasmin Bahlo, Christiane Pott, Lone Bredo Pedersen, Larry Mansouri, Karin E Smedby, Charles C Chu, Véronique Giudicelli, Marie-Paule Lefranc, Panagiotis Panagiotidis, Gunnar Juliusson, Achilles Anagnostopoulos, Ioannis Vlahavas, Darko Antic, Livio Trentin, Marco Montillo, Carsten U Niemann, Hartmut Dohner, Anton W Langerak, Sarka Pospisilova, Michael Hallek, Elias Campo, Nicholas- Chiorazzi, Nikos Maglaveras, David Oscier, Gianluca Gaidano, Diane F Jelinek, Stephan Stilgenbauer, Ioanna Chouvarda, Nikos Darzentas, Chrysoula Belessi, Frédéric Davi, Anastasia Hadzidimitriou, Richard Rosenquist, Paolo Ghia, Kostas Stamatopoulos
We sought to investigate if B cell receptor immunoglobulin (BcR IG) stereotypy is associated with particular clinicobiological features amongst chronic lymphocytic leukemia (CLL) patients expressing mutated BcR IG (M-CLL) encoded by the IGHV4-34 gene, and also ascertain whether these associations could refine prognostication.<br /> <p>Experimental Design: In a series of 19,907 CLL cases with available immunogenetic information, we identified 339 IGHV4-34 expressing cases assigned to one of the four largest stereotyped M-CLL subsets, namely subsets #4, #16, #29 and #201, and investigated in detail their clinicobiological characteristics and disease outcomes...
May 23, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28517553/ifi16-reduced-expression-is-correlated-with-unfavorable-outcome-in-chronic-lymphocytic-leukemia
#16
Pier Paolo Piccaluga, Claudio Agostinelli, Simona Righi, Maria Ciccone, Maria Carla Re, Giuseppina Musumeci, Erica Diani, Caterina Signoretto, Isabella Bon, Ottavio Piccin, Antonio Cuneo, Claudio Tripodo, Cristina Ponti, Donato Zipeto, Santo Landolfo, Davide Gibellini
Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Its clinical course is typically indolent; however, based on a series of pathobiological, clinical, genetic, and phenotypic parameters, patient survival varies from less than 5 to more than 20 years. In this paper, we show for the first time that the expression of the interferon-inducible DNA sensor IFI16, a member of the PYHIN protein family involved in proliferation inhibition and apoptosis regulation, is associated with the clinical outcome in CLL...
June 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28494631/learning-from-the-failures-of-drug-discovery-in-b-cell-non-hodgkin-lymphomas-and-perspectives-for-the-future-chronic-lymphocytic-leukemia-and-diffuse-large-b-cell-lymphoma-as-two-ends-of-a-spectrum-in-drug-development
#17
REVIEW
Boris Kubuschok, Martin Trepel
Despite substantial recent advances, there is still an unmet need for better therapies in B-cell non Hodgkin lymphomas (B-NHL), especially in relapsed or refractory disease. Many novel targeted drugs have been developed based on a better molecular understanding of B-NHL. Areas covered: This article focuses on chronic lymphocytic leukemia (CLL) as a representative for indolent lymphomas and paradigmatic for the tremendous progress in treating B-NHL on the one hand and diffuse large B-cell lymphoma (DLBCL) as a representative for aggressive lymphomas and paradigmatic for many unsolved problems in lymphoma treatment or the other hand...
July 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28446054/pharmacotherapy-of-relapsed-refractory-chronic-lymphocytic-leukemia
#18
Abdallah Abou Zahr, Prithviraj Bose, Michael J Keating
The treatment of relapsed/refractory (RR) CLL has been revolutionized by the advent of the new oral inhibitors of B-cell receptor (BCR) signaling and the pro-survival protein, B-cell lymphoma 2 (BCL2). Additionally, new and more potent monoclonal antibodies against CD20 have replaced/may replace rituximab in many settings. Areas covered: Herein, we review the entire therapeutic landscape of RR CLL, with particular attention to the new small-molecule kinase inhibitors and BH3-mimetics. We discuss preclinical data with these agents in CLL, cover available efficacy and safety information, and examine potential resistance mechanisms and possible rational combinations to circumvent them...
June 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28444740/chronic-lymphocytic-leukaemia-genomics-and-the-precision-medicine-era
#19
REVIEW
Hussein Ghamlouch, Florence Nguyen-Khac, Olivier A Bernard
Massive genomic analyses have underscored the diversity of chronic lymphocytic leukaemia (CLL) between patients. Genetic heterogeneity of tumour clones within a patient may fuel tumour evolution. Several recurrently deregulated intra-cellular pathways are candidates for targeted therapies that are very promising and are dramatically changing clinical patients' perspectives. In this review we present an overview of the genetic and epigenetic features of CLL and their clinical and biological implications.
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28424416/loss-of-thyroid-hormone-receptor-interactor-13-inhibits-cell-proliferation-and-survival-in-human-chronic-lymphocytic-leukemia
#20
Keshu Zhou, Wentao Zhang, Qing Zhang, Ruirui Gui, Huifang Zhao, Xiaofei Chai, Yufu Li, Xudong Wei, Yongping Song
BACKGROUND: The genetic regulation of apoptosis and cell proliferation plays a role in the growth of chronic lymphocytic leukemia (CLL), the most common form of leukemia in the Western hemisphere. Although thyroid hormone receptor interactors (TRIPs) are known to play roles in cell cycle, the potential involvement of the novel family member TRIP13 in CLL has not yet been investigated. METHODS: Quantitative PCR (qPCR) was used to detect expression of TRIP13 in 36 CLL patients and 33 healthy donors CD19+ B cells...
April 11, 2017: Oncotarget
keyword
keyword
30579
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"