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https://www.readbyqxmd.com/read/29334300/the-impact-of-early-molecular-response-in-children-and-adolescents-with-chronic-myeloid-leukemia-treated-with-imatinib-a-single-center-study-from-china
#1
Haigang Shao, Zhao Zeng, Jiannong Cen, Jun Zhang, Shuxiao Bai, Chunxiao Wu, Yanlei Gong, Yong Wang, Huiying Qiu, Suning Chen, Jinlan Pan
Chronic myeloid leukemia (CML) is rare among children and adolescents. The early molecular response (EMR) is an important prognostic significance for adult CML patients. This study explored the impact of EMR on the prognosis in 40 children and adolescents with CML-CP treated with imatinib (IM). Our results showed that a high proportion of patients failed to achieve the BCR-ABL1/ABL1 International Scale (IS) ≤ 10% at 3 months. Children with a BCR-ABL1/ABL1 ≤ 10% at 3 months and <1% at 6 months increased the rate of achieving complete cytogenetic response (CCyR) and/or major molecular response (MMR) at 12 months compared to those with BCR-ABL1/ABL1 > 10%...
January 15, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29333840/-giant-retroperitoneal-lipoblastoma-case-report
#2
Nicolás I Rosière, Alejandra G Falcioni, Daniel Navacchia, Daniel Giambini
Lipoblastoma is part of tumors derived from adipose tissue. It is a benign neoplasm that can be localized or diffuse, affecting children in early childhood and usually located in the trunk and extremities. These tumors are uncommon in the pediatric age, but when one of them is present, it is a challenge that we must resolve quickly due to the risk of malignancy that involves other similar neoplastic lesions. The preoperative diagnosis is difficult, because the imaging methods do not provide specific information that allows us to differentiate them from other tumors, such as liposarcomas...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#3
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29331774/the-synergy-of-vitamin-c-with-decitabine-activates-tet2-in-leukemic-cells-and-significantly-improves-overall-survival-in-elderly-patients-with-acute-myeloid-leukemia
#4
Huihui Zhao, Huayuan Zhu, Jiayu Huang, Yu Zhu, Ming Hong, Han Zhu, Jingjing Zhang, Shan Li, Lijia Yang, Yun Lian, Shuai Wang, Jianping Mao, Yaoyu Chen, Jianyong Li, Sixuan Qian
BACKGROUND: Decitabine is widely used in the treatment of acute myeloid leukemia (AML) in elderly patients. Low-dose Vitamin C has also been indicated to induce DNA demethylation at the cellular level. However, little is known whether low-dose Vitamin C has a synergistic effect with decitabine in clinic. METHODS: The effect of combined low-dose Vitamin C and decitabine on cell proliferation, the cell cycle, apoptosis and the expression level and activity of TET2 was investigated in HL60 and NB4 human leukemic cells...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29330757/-myelodysplastic-syndrome-acute-leukemia-and-stem-cell-transplantation
#5
REVIEW
M Schmalzing, M Aringer, M Bornhäuser, J Atta
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders. They are characterized by inefficient hematopoiesis leading to peripheral cytopenia of one or more lineages and a variable risk of transformation into acute myeloid leukemia. They may either arise de novo as well as following exposition to environmental toxins, previous radiotherapy or chemotherapy or in the context of autoinflammatory diseases and related therapy. Characteristic cytogenetic abnormalities, along with the numbers of hematopoietic lineages affected and bone marrow blasts, enable an assessment of the risk of leukemic transformation...
October 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29330722/location-of-low-copy-genes-in-chromosomes-of-brachiaria-spp
#6
Thaís Furtado Nani, James C Schnable, Jacob D Washburn, Patrice Albert, Welison Andrade Pereira, Fausto Souza Sobrinho, James A Birchler, Vânia Helena Techio
Repetitive DNA sequences have been widely used in cytogenetic analyses. The use of gene sequences with a low-copy-number, however, is little explored especially in plants. To date, the karyotype details in Brachiaria spp. are limited to the location of rDNA sites. The challenge lies in developing new probes based on incomplete sequencing data for the genus or complete sequencing of related species, since there are no model species with a sequenced genome in Brachiaria spp. The present study aimed at the physical location of conserved genes in chromosomes of Brachiaria ruziziensis, Brachiaria brizantha, and Brachiaria decumbens using RNAseq data, as well as sequences of Setaria italica and Sorghum bicolor through the fluorescent in situ hybridization technique...
January 12, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29330561/salvage-therapy-post-pomalidomide-based-regimen-in-relapsed-refractory-myeloma
#7
Guillemette Fouquet, Lionel Karlin, Margaret Macro, Denis Caillot, Murielle Roussel, Bertrand Arnulf, Brigitte Pegourie, Marie Odile Petillon, Claire Mathiot, Cyrille Hulin, Brigitte Kolb, Anne-Marie Stoppa, Sabine Brechiniac, Philippe Rodon, Mamoun Dib, Mourad Tiab, Valentine Richez, Carla Araujo, Marc Wetterwald, Laurent Garderet, Bruno Royer, Aurore Perrot, Lotfi Benboubker, Olivier Decaux, Martine Escoffre-Barbe, Jean Paul Fermand, Philippe Moreau, Hervé Avet-Loiseau, Michel Attal, Thierry Facon, Xavier Leleu
The combination of pomalidomide and low-dose dexamethasone (Pom-Dex) has proved effective and safe in patients with end-stage relapsed/refractory multiple myeloma (RRMM), otherwise characterized by a very poor outcome. MM remains an incurable disease with unavoidable relapses, and the outcome after pomalidomide is still dismal. However, some patients demonstrate prolonged survival even beyond pomalidomide therapy.We sought to analyze the treatment of RRMM patients following Pom-Dex therapy and the response and survival after this next treatment line...
January 12, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29330221/minimal-measurable-residual-disease-in-aml-consensus-document-from-eln-mrd-working-party
#8
Gerrit J Schuurhuis, Michael Heuser, Sylvie Freeman, Marie-Christine Béné, Francesco Buccisano, Jacqueline Cloos, David Grimwade, Torsten Haferlach, Robert K Hills, Christopher S Hourigan, Jeffrey L Jorgensen, Wolfgang Kern, Francis Lacombe, Luca Maurillo, Claude Preudhomme, Bert A van der Reijden, Christian Thiede, Adriano Venditti, Paresh Vyas, Brent L Wood, Roland B Walter, Konstanze Döhner, Gail J Roboz, Gert J Ossenkoppele
Measurable residual disease (MRD, previously termed minimal residual disease) is an independent, post-diagnosis, prognostic indicator in acute myeloid leukemia (AML) that is important for risk stratification and treatment planning, in conjunction with other well-established clinical, cytogenetic, and molecular data assessed at diagnosis. MRD can be evaluated using a variety of multi-parameter flow cytometry (MFC) and molecular protocols but, to date, these approaches have not been qualitatively or quantitatively standardized, making their use in clinical practice challenging...
January 12, 2018: Blood
https://www.readbyqxmd.com/read/29330206/evolution-of-cytogenetically-normal-acute-myeloid-leukemia-during-therapy-and-relapse-an-exome-sequencing-study-of-50-patients
#9
Philipp A Greif, Luise Hartmann, Sebastian Vosberg, Sophie Stief, Raphael Mattes, Ines Hellmann, Klaus H Metzeler, Tobias Herold, Stefanos Bamopoulos, Paul Kerbs, Vindi Jurinovic, Daniela Schumacher, Friederike Pastore, Kathrin Bräundl, Evelyn Zellmeier, Bianka Ksienzyk, Nikola Konstandin, Stephanie Schneider, Alexander Graf, Stefan Krebs, Helmut Blum, Martin Neumann, Claudia Baldus, Stefan K Bohlander, Stephan Wolf, Dennis Goerlich, Wolfgang E Berdel, Bernhard J Woermann, Wolfgang Hiddemann, Karsten Spiekermann
PURPOSE: To study mechanisms of therapy-resistance and disease progression, we analyzed the evolution of cytogenetically normal acute myeloid leukemia (CN-AML) based on somatic alterations. EXPERIMENTAL DESIGN: We performed exome-sequencing of matched diagnosis, remission and relapse samples from 50 CN-AML patients treated with intensive chemotherapy. Mutation patterns were correlated with clinical parameters. RESULTS: Evolutionary patterns correlated with clinical outcome...
January 12, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29329524/uncovering-the-evolutionary-history-of-neo-xy-sex-chromosomes-in-the-grasshopper-ronderosia-bergii-orthoptera-melanoplinae-through-satellite-dna-analysis
#10
Octavio M Palacios-Gimenez, Diogo Milani, Bernardo Lemos, Elio R Castillo, Dardo A Martí, Erica Ramos, Cesar Martins, Diogo C Cabral-de-Mello
BACKGROUND: Neo-sex chromosome systems arose independently multiple times in evolution, presenting the remarkable characteristic of repetitive DNAs accumulation. Among grasshoppers, occurrence of neo-XY was repeatedly noticed in Melanoplinae. Here we analyzed the most abundant tandem repeats of R. bergii (2n = 22, neo-XY♂) using deep Illumina sequencing and graph-based clustering in order to address the neo-sex chromosomes evolution. RESULTS: The analyses revealed ten families of satDNAs comprising about ~1% of the male genome, which occupied mainly C-positive regions of autosomes...
January 8, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29327808/the-rocky-road-to-personalized-medicine-in-acute-myeloid-leukaemia
#11
REVIEW
Bryan Brinda, Irum Khan, Brian Parkin, Heiko Konig
Acute myeloid leukaemia (AML) is a malignant disorder of the myeloid blood lineage characterized by impaired differentiation and increased proliferation of hematopoietic precursor cells. Recent technological advances have led to an improved understanding of AML biology but also uncovered the enormous cytogenetic and molecular heterogeneity of the disease. Despite this heterogeneity, AML is mostly managed by a 'one-size-fits-all' approach consisting of intensive, highly toxic induction and consolidation chemotherapy...
January 12, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29327715/de-novo-pure-erythroid-leukemia-refining-the-clinicopathologic-and-cytogenetic-characteristics-of-a-rare-entity
#12
Erica F Reinig, Patricia T Greipp, April Chiu, Matthew T Howard, Kaaren K Reichard
Per the revised fourth edition World Health Organization classification of acute myeloid leukemia, pure erythroid leukemia is now the sole type of acute erythroid leukemia. The diagnosis of this rare entity is often challenging and the cytologic overlap with non-neoplastic (eg, megaloblastic anemia) and neoplastic entities (eg, other types of acute leukemia and non-hematopoietic malignancies) warrants a significant degree of clinical, laboratory, immunophenotypic, and genetic investigation. Given the limited number of reports of this rare and diagnostically challenging entity, we report detailed clinicopathologic characteristics from 15 patients, the largest series thus far, of primary de novo pure erythroid leukemia to provide further diagnostic insights into this entity and reveal strategies for making the diagnosis...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29327260/lifetime-study-in-mice-after-acute-low-dose-ionizing-radiation-a-multifactorial-study-with-special-focus-on-cataract-risk
#13
Claudia Dalke, Frauke Neff, Savneet Kaur Bains, Scott Bright, Deborah Lord, Peter Reitmeir, Ute Rößler, Daniel Samaga, Kristian Unger, Herbert Braselmann, Florian Wagner, Matthias Greiter, Maria Gomolka, Sabine Hornhardt, Sarah Kunze, Stefan J Kempf, Lillian Garrett, Sabine M Hölter, Wolfgang Wurst, Michael Rosemann, Omid Azimzadeh, Soile Tapio, Michaela Aubele, Fabian Theis, Christoph Hoeschen, Predrag Slijepcevic, Munira Kadhim, Michael Atkinson, Horst Zitzelsberger, Ulrike Kulka, Jochen Graw
Because of the increasing application of ionizing radiation in medicine, quantitative data on effects of low-dose radiation are needed to optimize radiation protection, particularly with respect to cataract development. Using mice as mammalian animal model, we applied a single dose of 0, 0.063, 0.125 and 0.5 Gy at 10 weeks of age, determined lens opacities for up to 2 years and compared it with overall survival, cytogenetic alterations and cancer development. The highest dose was significantly associated with increased body weight and reduced survival rate...
January 11, 2018: Radiation and Environmental Biophysics
https://www.readbyqxmd.com/read/29326799/molecular-heterogeneity-in-acute-promyelocytic-leukemia-a-single-center-experience-from-india
#14
Nikhil Rabade, Goutham Raval, Shruti Chaudhary, P G Subramanian, Rohan Kodgule, Swapnali Joshi, Prashant Tembhare, Syed K Hasan, Hasmukh Jain, Manju Sengar, Gaurav Narula, Shripad Banavali, Pratibha Amare Kadam, Dhanalaxmi Shetty, Sumeet Gujral, Nikhil Patkar
Atypical breakpoints and variant APL cases involving alternative chromosomal aberrations are seen in a small subset of acute promyelocytic leukemia (APL) patients. Over seven different partner genes for RARA have been described. Although rare, these variants prove to be a diagnostic challenge and require a combination of advanced cytogenetic and molecular techniques for accurate characterization. Heterogeneity occurs not only at the molecular level but also at clinico-pathological level influencing treatment response and outcome...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29326119/association-of-mutations-with-morphologic-dysplasia-in-de-novo-acute-myeloid-leukemia-without-2016-who-classification-defined-cytogenetic-abnormalities
#15
Olga K Weinberg, Christopher J Gibson, Traci M Blonquist, Donna Neuberg, Olga Pozdnyakova, Frank Kuo, Benjamin L Ebert, Robert P Hasserjian
Despite improvements in our understanding of the molecular basis of acute myeloid leukemia, the association between genetic mutations with morphologic dysplasia remains unclear. In this study, we evaluated and scored dysplasia in bone marrow specimens from 168 patients with de novo acute myeloid leukemia; none of these patients had 2016 WHO Classification-defined cytogenetic abnormalities. We then performed targeted sequencing of diagnostic bone marrow aspirates for recurrent mutations associated with myeloid malignancies...
January 11, 2018: Haematologica
https://www.readbyqxmd.com/read/29325829/allogeneic-stem-cell-transplantation-for-advanced-myelodysplastic-syndrome-comparison-of-outcomes-between-cd34-selected-or-unmodified-hematopoietic-stem-cells-transplants
#16
Roni Tamari, Betul Oran, Patrick Hilden, Molly Maloy, Piyanuch Kongtim, Esperanza B Papadopoulos, Gabriela Rondon, Ann A Jakubowski, Borje S Andersson, Sean M Devlin, Sairah Ahmed, Uday R Popat, Doris Ponce, Julianne Chen, Craig Sauter, James W Young, Marcos de Lima, Miguel-Angel Perales, Richard J O'Reilly, Sergio A Giralt, Richard E Champlin, Hugo Castro-Malaspina
PURPOSE: To compare transplant outcomes in patients with advanced myelodysplastic syndrome (MDS) after CD34+ selected or unmodified allografts. PATIENTS AND METHODS: This analysis included initially 181 patients; 60 underwent CD34+ selected transplant and 121 had an unmodified transplant. Due to significant differences in disease characteristics, the analysis was limited to patients who had <10% blasts prior to transplant (N=145). Two groups were defined: (1) low risk: good and intermediate risk cytogenetics (CD34+, N=39; unmodified, N=46), and (2) high risk: poor and very poor risk cytogenetic (CD34+, N=19; unmodified, N=41)...
January 8, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29321824/high-frequency-of-cd34-cd38-low-immature-leukemia-cells-is-correlated-with-unfavorable-prognosis-in-acute-myeloid-leukemia
#17
Adriana Plesa, Charles Dumontet, Eve Mattei, Ines Tagoug, Sandrine Hayette, Pierre Sujobert, Isabelle Tigaud, Marie Pierre Pages, Youcef Chelghoum, Fiorenza Baracco, Helene Labussierre, Sophie Ducastelle, Etienne Paubelle, Franck Emmanuel Nicolini, Mohamed Elhamri, Lydia Campos, Claudiu Plesa, Stéphane Morisset, Gilles Salles, Yves Bertrand, Mauricette Michallet, Xavier Thomas
AIM: To evaluate the importance of the CD34+CD38- cell population when compared to the CD34+CD38+/low and CD34+CD38+/high leukemic cell sub-populations and to determine its correlations with leukemia characteristics and known prognostic factors, as well as with response to therapy and survival. METHODS: Two hundred bone marrow samples were obtained at diagnosis from 200 consecutive patients with newly diagnosed acute myeloid leukemia (AML) were studied between September 2008 and December 2010 at our Institution (Hematology Department, Lyon, France)...
December 26, 2017: World Journal of Stem Cells
https://www.readbyqxmd.com/read/29321554/mutations-in-dnmt3a-u2af1-and-ezh2-identify-intermediate-risk-acute-myeloid-leukemia-patients-with-poor-outcome-after-cr1
#18
Caner Saygin, Cassandra Hirsch, Bartlomiej Przychodzen, Mikkael A Sekeres, Betty K Hamilton, Matt Kalaycio, Hetty E Carraway, Aaron T Gerds, Sudipto Mukherjee, Aziz Nazha, Ronald Sobecks, Christopher Goebel, Donna Abounader, Jaroslaw P Maciejewski, Anjali S Advani
Intermediate-risk acute myeloid leukemia (IR-AML) is a clinically heterogeneous disease, for which optimal post-remission therapy is debated. The utility of next-generation sequencing information in decision making for IR-AML has yet to be elucidated. We retrospectively studied 100 IR-AML patients, defined by European Leukemia Net classification, who had mutational information at diagnosis, received intensive chemotherapy and achieved complete remission (CR) at Cleveland Clinic (CC). The Cancer Genome Atlas (TCGA) data were used for validation...
January 10, 2018: Blood Cancer Journal
https://www.readbyqxmd.com/read/29316456/disease-characteristics-and-clinical-outcomes-in-patients-aged-less-than-40-with-chronic-lymphocytic-leukemia
#19
Bartlomiej M Getta, Sean Devlin, Jae H Park, Martin S Tallman, Ellin Berman
Outcomes in very young CLL patients (age ≤40) are not well characterized. We compared 71 consecutive patients aged ≤40 with 142 "older" matched patients >40 from our institution and used SEER database as an independent comparison group. Patients in the two age groups were diagnosed at similar Rai stage. At diagnosis, very young patients had a similar rate of adverse cytogenetics, IGHV mutation and ZAP70 expression and had lower beta-2-microglobulin and a lower incidence of second malignancies. There was no difference between the groups with respect to incidence of autoimmune manifestations, family history of lymphoma, time to initiation of CLL therapy, response to therapy, or Richter's transformation...
January 3, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29314186/aggressive-nk-cell-leukaemia-and-extranodal-nk-t-cell-lymphoma-are-two-distinct-diseases-that-differ-in-their-clinical-presentation-and-cytogenetic-findings
#20
Ching-Fen Yang, Chih-Yi Hsu, Donald Ming-Tak Ho
AIMS: Distinguishing between aggressive NK-cell leukaemia (ANKCL) and extranodal NK/T-cell lymphoma (ENKTCL) with secondary bone marrow involvement is challenging, as they are rare bone marrow NK/T-cell neoplasms and share similar features. METHODS AND RESULTS: We studied bone marrow NK/T-cell neoplasms by classifying them into those with no extramedullary mass (group 1, 8 cases) and those with extramedullary mass (group 2, 13 cases). Both groups showed similar clinical presentations and pathological features...
January 4, 2018: Histopathology
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