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Genetics on leukemia

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https://www.readbyqxmd.com/read/30540863/-high-hyperdiploid-acute-lymphoblastic-leukemia-is-a-highly-curable-subtype-of-childhood-leukemia
#1
Ágnes Vojcek, László Pajor
Acute lymphoblastic leukemia (ALL) is the most frequent malignancy in children. In Hungary 60-70 new cases are diagnosed annually. The survival rate is 85-90% in developed countries with current treatment protocols. The most common genetic category of childhood ALL is the high hyperdiploid subtype (HHD) with chromosome numbers of 51 to 67. It accounts for approximately 25% of all cases. The prognosis is very good, though relapse occurs in ~15% of cases and there are data on the heterogeneity of this subgroup as well...
December 12, 2018: Magyar Onkologia
https://www.readbyqxmd.com/read/30538114/gata2-deficiency-and-human-hematopoietic-development-modeled-using-induced-pluripotent-stem-cells
#2
Moonjung Jung, Stefan Cordes, Jizhong Zou, Shiqin J Yu, Xavi Guitart, So Gun Hong, Vinh Dang, Elaine Kang, Flavia S Donaires, Sergio A Hassan, Maher Albitar, Amy P Hsu, Steven M Holland, Dennis D Hickstein, Danielle Townsley, Cynthia E Dunbar, Thomas Winkler
GATA2 deficiency is an inherited or sporadic genetic disorder characterized by distinct cellular deficiency, bone marrow failure, various infections, lymphedema, pulmonary alveolar proteinosis, and predisposition to myeloid malignancies resulting from heterozygous loss-of-function mutations in the GATA2 gene. How heterozygous GATA2 mutations affect human hematopoietic development or cause characteristic cellular deficiency and eventual hypoplastic myelodysplastic syndrome or leukemia is not fully understood...
December 11, 2018: Blood Advances
https://www.readbyqxmd.com/read/30537151/effects-of-gst-variants-on-the-risk-odds-of-hematological-malignancy-a-meta-analysis
#3
Minjie Li, Meifang Zheng, Hongyun Chen, Haiqing Yu
BACKGROUND: Whether glutathione S-transferases (GST) polymorphisms influence the risk odds of hematological malignancy remains controversial. Therefore, we performed this meta-analysis to better analyze correlations between GST polymorphisms and hematological malignancy. METHODS: Literature retrieve was conducted in PubMed, MEDLINE, and Embase. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. RESULTS: Sixty-two studies were enrolled for analyses...
December 9, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/30534535/the-notch-pathway-and-its-mutations-in-mature-b-cell-malignancies
#4
REVIEW
Francesca Arruga, Tiziana Vaisitti, Silvia Deaglio
The systematic application of next-generation sequencing to large cohorts of oncologic samples has opened a Pandora's box full of known and novel genetic lesions implicated in different steps of cancer development and progression. Narrowing down to B cell malignancies, many previously unrecognized genes emerged as recurrently mutated. The challenge now is to determine how the mutation in a given gene affects the biology of the disease, paving the way to functional genomics studies. Mutations in NOTCH family members are shared by several disorders of the B series, even if with variable frequencies and mutational patterns...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/30533396/a-pharmacogenetic-study-of-vdr-fok1-and-tyms-polymorphisms-and-their-association-with-glucocorticoid-induced-osteonecrosis-in-egyptian-children-with-acute-lymphoblastic-leukemia
#5
Dina ElHarouni, Dina Yassin, Nesreen Ali, Seham Gohar, Iman Zaky, Hassan Adwan, Iman Sidhom
Purpose: Osteonecrosis is a significant toxicity resulting from the treatment of pediatric Acute Lymphoblastic Leukemia (ALL). This study aimed to investigate the relationship between vitamin D receptor fok1 (VDR fok1) and thymidylate synthase (TYMS) gene polymorphisms with the glucocorticoid (GC) induced osteonecrosis (ON) in Egyptian pediatric ALL patients. In addition, to identify the possible association of genetic polymorphisms with other factors such as gender and ALL subtypes. Patients and Methods: A retrospective case-control study was conducted on 102 pediatric ALL patients under the age of 18 who were treated at Children Cancer Hospital Egypt according to St Jude SR/HR total XV protocol...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/30530780/-phf6-and-dnmt3a-mutations-are-enriched-in-distinct-subgroups-of-mixed-phenotype-acute-leukemia-with-t-lineage-differentiation
#6
Wenbin Xiao, Maheetha Bharadwaj, Max Levine, Noushin Farnhoud, Friederike Pastore, Bartlomiej M Getta, Anne Hultquist, Christopher Famulare, Juan S Medina, Minal A Patel, Qi Gao, Natasha Lewis, Janine Pichardo, Jeeyeon Baik, Brian Shaffer, Sergio Giralt, Raajit Rampal, Sean Devlin, Robert Cimera, Yanming Zhang, Maria E Arcila, Elli Papaemmanuil, Ross L Levine, Mikhail Roshal
The genetic aberrations that drive mixed phenotype acute leukemia (MPAL) remain largely unknown, with the exception of a small subset of MPALs harboring BCR -ABL1 and MLL translocations. We performed clinicopathologic and genetic evaluation of 52 presumptive MPAL cases at Memorial Sloan Kettering Cancer Center. Only 29 out of 52 (56%) cases were confirmed to be bona fide MPAL according to the 2016 World Heath Organization classification. We identified PHF6 and DNMT3A mutations as the most common recurrent mutations in MPAL, each occurring in 6 out of 26 (23%) cases...
December 11, 2018: Blood Advances
https://www.readbyqxmd.com/read/30516079/the-magnitude-of-improvement-in-progression-free-survival-with-targeted-therapy-in-relapsed-refractory-chronic-lymphocytic-leukemia-based-on-prognostic-risk-category-a-systematic-review-and-meta-analysis
#7
Stefano Molica, Diana Giannarelli, Rosanna Mirabelli, Luciano Levato, Tait D Shanafelt
Chronic lymphocytic leukemia (CLL) guidelines highlight the relevance of cytogenetic and molecular testing to identify patients with high-risk genetic features. However, at the moment, only 17p del/TP53 mutation are universally recognized parameters influencing choice of therapy. We conducted a systematic review and meta-analysis assessing the magnitude of improvement in progression-free survival (PFS) with B-cell receptor (BCR) (i.e. ibrutinib and idelalisib) or BCL2 (i.e. venetoclax) pathway inhibitors based on the presence or absence of 17p deletion/TP53 mutations, 11q deletion and IGHV mutational status in relapsed/refractory (R/R) CLL patients...
December 5, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/30504323/using-genomics-to-define-pediatric-blood-cancers-and-inform-practice
#8
REVIEW
Rachel E Rau, Mignon L Loh
Over the past decade, there has been exponential growth in the number of genome sequencing studies performed across a spectrum of human diseases as sequencing technologies and analytic pipelines improve and costs decline. Pediatric hematologic malignancies have been no exception, with a multitude of next generation sequencing studies conducted on large cohorts of patients in recent years. These efforts have defined the mutational landscape of a number of leukemia subtypes and also identified germ-line genetic variants biologically and clinically relevant to pediatric leukemias...
November 30, 2018: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/30502911/lymphocyte-proliferation-and-apoptosis-of-lymphocyte-subpopulations-in-bovine-leukemia-virus-infected-dairy-cows-with-high-and-low-proviral-load
#9
María Victoria Nieto Farias, Fernando Nogueira Souza, Pamela Anahí Lendez, Lucía Martínez-Cuesta, Kamila Reis Santos, Alice Maria Melville Paiva Della Libera, María Carolina Ceriani, Guillermina Laura Dolcini
Bovine leukemia virus (BLV) is one of the most important virus in dairy cattle. The infection behavior follows what we call the iceberg phenomenon: 60% of infected animals do not show clinical signs; 30% develop persistent lymphocytosis (PL); and the remaining 10%, die due to lymphosarcoma. BLV transmission depends on infected cell exchange and thus, proviral load is determinant. Understanding the mechanisms by which cattle governs the control of viral dissemination will be desirable for designing effective therapeutic or preventive strategies for BLV...
December 2018: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/30499168/hypomethylating-agents-in-combination-with-venetoclax-for-acute-myeloid-leukemia-update-on-clinical-trial-data-and-practical-considerations-for-use
#10
Matthew Mei, Ibrahim Aldoss, Guido Marcucci, Vinod Pullarkat
One of the most promising developments in therapy for acute myeloid leukemia (AML) in recent years has been the combination of hypomethylating agents (HMA, either decitabine or 5-azacytidine) with the Bcl-2 inhibitor venetoclax (VEN). Although both classes of drugs have single-agent activity in AML, the combination has resulted in high rates of complete remission both in the frontline and relapsed settings suggesting synergy between these two agents. Recent data have suggested that complete remission (CR) + CR with incomplete count recovery rate may exceed 70% for frontline VEN-HMA...
November 30, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/30497985/constitutional-chromosome-rearrangements-that-mimic-the-2017-world-health-organization-acute-myeloid-leukemia-with-recurrent-genetic-abnormalities-a-study-of-three-cases-and-review-of-the-literature
#11
Jess F Peterson, Beth A Pitel, Stephanie A Smoley, James B Smadbeck, Sarah H Johnson, George Vasmatzis, Kathryn E Pearce, Rong He, Katalin Kelemen, Hamid A B Al-Mondhiry, Nicholas E Lamparella, Nicole L Hoppman, Hutton M Kearney, Linda B Baughn, Rhett P Ketterling, Patricia T Greipp
OBJECTIVES: To identify and characterize constitutional chromosomal rearrangements that mimic recurrent genetic abnormalities in acute myeloid leukemia (AML). METHODS: Bone marrow and blood chromosome studies were reviewed to identify constitutional rearrangements that resemble those designated by the 2017 revised World Health Organization (WHO) "AML with recurrent genetic abnormalities". Mate-pair sequencing (MPseq) was performed on cases with constitutional chromosome mimics of recurrent AML abnormalities to further define the rearrangement breakpoints...
November 20, 2018: Cancer Genetics
https://www.readbyqxmd.com/read/30489176/expression-of-survivin-and-its-splice-variants-in-pediatric-acute-lymphoblastic-leukemia
#12
Efsun Eren-Keleş, Halil Gürhan Karabulut, Hasan Fatih Çakmaklı, Başak Adaklı, Serdar Kenan Köse, Handan Uğur-Dinçaslan, Gülsan Yavuz, Mehmet Ertem, Ajlan Tükün
AIMS: Survivin is involved in the inhibition of apoptosis and the regulation of cell division. In addition to wild-type survivin (survivin-wt), at least four splice variants with differential functions (ΔEx3 and 3B antiapoptotic, and 2α and 2B proapoptotic) have been identified. Survivin is highly expressed in several cancers, including hematological malignancies. Although acute lymphoblastic leukemia (ALL) is the most frequent malignancy in children, studies that investigated survivin expression in ALL are limited, and there is no study on 3B and 2α expression in ALL...
November 29, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30487223/transcriptional-landscape-of-b-cell-precursor-acute-lymphoblastic-leukemia-based-on-an-international-study-of-1-223-cases
#13
Jian-Feng Li, Yu-Ting Dai, Henrik Lilljebjörn, Shu-Hong Shen, Bo-Wen Cui, Ling Bai, Yuan-Fang Liu, Mao-Xiang Qian, Yasuo Kubota, Hitoshi Kiyoi, Itaru Matsumura, Yasushi Miyazaki, Linda Olsson, Ah Moy Tan, Hany Ariffin, Jing Chen, Junko Takita, Takahiko Yasuda, Hiroyuki Mano, Bertil Johansson, Jun J Yang, Allen Eng-Juh Yeoh, Fumihiko Hayakawa, Zhu Chen, Ching-Hon Pui, Thoas Fioretos, Sai-Juan Chen, Jin-Yan Huang
Most B cell precursor acute lymphoblastic leukemia (BCP ALL) can be classified into known major genetic subtypes, while a substantial proportion of BCP ALL remains poorly characterized in relation to its underlying genomic abnormalities. We therefore initiated a large-scale international study to reanalyze and delineate the transcriptome landscape of 1,223 BCP ALL cases using RNA sequencing. Fourteen BCP ALL gene expression subgroups (G1 to G14) were identified. Apart from extending eight previously described subgroups (G1 to G8 associated with MEF2D fusions, TCF3-PBX1 fusions, ETV6-RUNX1 -positive/ ETV6-RUNX1 -like, DUX4 fusions, ZNF384 fusions, BCR-ABL1 /Ph-like, high hyperdiploidy, and KMT2A fusions), we defined six additional gene expression subgroups: G9 was associated with both PAX5 and CRLF2 fusions; G10 and G11 with mutations in PAX5 (p...
November 28, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/30487125/birc3-expression-predicts-cll-progression-and-defines-treatment-sensitivity-via-enhanced-nf-%C3%AE%C2%BAb-nuclear-translocation
#14
Daniela Asslaber, Nathalie Wacht, Michael Leisch, Yuan Qi, Nicole Maeding, Clemens Hufnagl, Bettina Jansko, Nadja Zaborsky, Andreas Villunger, Tanja N Hartmann, Richard Greil, Alexander Egle
PURPOSE: Chronic lymphocytic leukemia (CLL) pathophysiology is characterized by a complex crosstalk of tumor cells with the microenvironment. In this regard, NF-kB signaling is considered as important signaling axis, with a variety of key molecules aberrantly expressed or genetically altered in CLL patients. One of these molecules is BIRC3 (cIAP2), a central regulator of non-canonical NF-kB signaling that serves as pathway brake in the absence of microenvironmental signals. However, the contribution of BIRC3 expression to CLL progression and potential therapeutic implications is unknown...
November 28, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/30479831/a-novel-antibody-tcr-abtcr-platform-combines-fab-based-antigen-recognition-with-gamma-delta-tcr-signaling-to-facilitate-t-cell-cytotoxicity-with-low-cytokine-release
#15
Yiyang Xu, Zhiyuan Yang, Lucas H Horan, Pengbo Zhang, Lianxing Liu, Bryan Zimdahl, Shon Green, Jingwei Lu, Javier F Morales, David M Barrett, Stephan A Grupp, Vivien W Chan, Hong Liu, Cheng Liu
The clinical use of genetically modified T-cell therapies has led to unprecedented response rates in leukemia and lymphoma patients treated with anti-CD19 chimeric antigen receptor (CAR)-T. Despite this clinical success, FDA-approved T-cell therapies are currently limited to B-cell malignancies, and challenges remain with managing cytokine-related toxicities. We have designed a novel antibody-T-cell receptor (AbTCR) platform where we combined the Fab domain of an antibody with the γ and δ chains of the TCR as the effector domain...
2018: Cell Discovery
https://www.readbyqxmd.com/read/30479191/involvement-of-mirna-polymorphism-in-mucositis-development-in-childhood-acute-lymphoblastic-leukemia-treatment
#16
Ángela Gutierrez-Camino, Maitane Umerez, Elixabet Lopez-Lopez, Borja Santos-Zorrozua, Idoia Martin-Guerrero, Nagore García de Andoin, Sastre Ana, Aurora Navajas, Itziar Astigarraga, Africa Garcia-Orad
AIM: Mucositis, linked to methotrexate, daunorubicin or cyclophosphamide, is a frequent childhood acute lymphoblastic leukemia (ALL) therapy side effect. miRNAs regulate the expression of pharmacokinetic/pharmacodynamic pathway genes. SNPs in miRNAs could affect their levels or function, and affect their pharmacokinetic/pharmacodynamic pathway target genes. Our aim was to determine the association between miRNA genetic variants targeting mucositis-related genes and mucositis-developing risk...
December 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/30476680/characterization-of-acute-myeloid-leukemia-with-del-9q-impact-of-the-genes-in-the-minimally-deleted-region
#17
Isabel S Naarmann-de Vries, Yvonne Sackmann, Felicitas Klein, Antje Ostareck-Lederer, Dirk H Ostareck, Edgar Jost, Gerhard Ehninger, Tim H Brümmendorf, Gernot Marx, Christoph Röllig, Christian Thiede, Martina Crysandt
Acute myeloid leukemia is an aggressive disease that arises from clonal expansion of malignant hematopoietic precursor cells of the bone marrow. Deletions on the long arm of chromosome 9 (del(9q)) are observed in 2% of acute myeloid leukemia patients. Our deletion analysis in a cohort of 31 del(9q) acute myeloid leukemia patients further supports the importance of a minimally deleted region composed of seven genes potentially involved in leukemogenesis: GKAP1, KIF27, C9ORF64, HNRNPK, RMI1, SLC28A3 and NTRK2...
November 17, 2018: Leukemia Research
https://www.readbyqxmd.com/read/30472492/inhibition-of-the-stat5-pim-kinase-axis-enhances-cytotoxic-effects-of-proteasome-inhibitors-on-flt3-itd-positive-aml-cells-by-cooperatively-inhibiting-the-mtorc1-4ebp1-s6k-mcl-1-pathway
#18
Ayako Nogami, Keigo Okada, Shinya Ishida, Hiroki Akiyama, Yoshihiro Umezawa, Osamu Miura
FLT3-ITD and FLT3-TKD are the most frequent tyrosine kinase mutations in acute myeloid leukemia (AML), with the former conferring a poor prognosis. We have recently revealed that FLT3-ITD confers resistance to the PI3K/AKT pathway inhibitors by protecting the mTORC1/4EBP1/Mcl-1 pathway through Pim kinases induced by STAT5 activation in AML. The proteasome inhibitor bortezomib has recently been reported as a promising agent for treatment of AML. Here, we show that the proteasome inhibitor bortezomib as well as carfilzomib induces apoptosis through the intrinsic pathway more conspicuously in cells transformed by FLT3-TKD than FLT3-ITD...
November 22, 2018: Translational Oncology
https://www.readbyqxmd.com/read/30468556/diverse-roles-of-the-e2-e3-hybrid-enzyme-ube2o-in-the-regulation-of-protein-ubiquitination-cellular-functions-and-disease-onset
#19
REVIEW
Kifayat Ullah, Emmanuel Zubia, Mahesh Narayan, Jing Yang, Guoqiang Xu
The ubiquitin-proteasome system is an important regulatory machinery involved in proteostasis and cellular signaling. Proteins are ubiquitinated via the concerted action of E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin ligases. Although most of the studies to date focus on the significance of E3 ubiquitin ligases in disease development and therapeutic treatment, recent discoveries suggest that E2 ubiquitin-conjugating enzymes might also be potential drug targets. The ubiquitin-conjugating enzyme E2 O (UBE2O), an E3-independent E2 (i...
November 23, 2018: FEBS Journal
https://www.readbyqxmd.com/read/30467200/trypsin-encoding-prss1-prss2-variation-influence-the-risk-of-asparaginase-associated-pancreatitis-in-children-with-acute-lymphoblastic-leukemia-a-ponte-di-legno-toxicity-working-group-report
#20
Benjamin O Wolthers, Thomas L Frandsen, Chirag J Patel, Rachid Abaji, Andishe Attarbaschi, Shlomit Barzilai, Antonella Colombini, Gabriele Escherich, Marie Grosjean, Maja Krajinovic, Eric Larsen, Der-Cherng Liang, Anja Möricke, Kirsten K Rasmussen, Sujith Samarasinghe, Lewis B Silverman, Inge M van der Sluis, Martin Stanulla, Morten Tulstrup, Rachita Yadav, Wenjian Yang, Ester Zapotocka, Ramneek Gupta, Kjeld Schmiegelow
Asparaginase-associated pancreatitis is a life-threatening toxicity to childhood acute lymphoblastic leukemia treatment. To elucidate genetic predisposition and asparaginase-associated pancreatitis pathogenesis, ten acute lymphoblastic leukemia trial groups contributed remission samples from patients aged 1.0-17.9 years and treated from 2000-2016. Cases were defined (n=244) by at least two of the following criteria: i) abdominal pain, ii) pancreatic enzymes >3 x upper normal limit, iii) imaging compatible with asparaginase-associated pancreatitis...
November 22, 2018: Haematologica
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