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Hyperdiploidy

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https://www.readbyqxmd.com/read/27717146/hyperdiploidy-as-a-rare-event-that-accompanies-poor-prognosis-markers-in-cll
#1
Isabel González-Gascón Y Marín, Ana África Martín, María Hernández-Sanchez, Cristina Robledo, María Lourdes Hermosín, Natalia de Las Heras, Laura Lacalle, Josefina Galende, Felipe de Arriba, Ana Eugenia Rodríguez-Vicente, José-Ángel Hernández, Jesús María Hernández-Rivas
: The presence of chromosomal gains other than trisomy 12 in chronic lymphocytic leukaemia (CLL) is unusual. However, some patients may show gains on several chromosomes simultaneously suggesting a hyperdiploid karyotype. OBJECTIVE: The objective of this study was to analyse by FISH the frequency and prognostic impact of hyperdiploidy in CLL. METHOD: A review of 1359 consecutive cases diagnosed with CLL referred for FISH analysis to a unique institution was carried out...
September 26, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27698447/long-term-outcome-of-six-month-maintenance-chemotherapy-for-acute-lymphoblastic-leukemia-in-children
#2
M Kato, S Ishimaru, M Seki, K Yoshida, Y Shiraishi, K Chiba, N Kakiuchi, Y Sato, H Ueno, H Tanaka, T Inukai, D Tomizawa, D Hasegawa, T Osumi, Y Arakawa, T Aoki, M Okuya, K Kaizu, K Kato, Y Taneyama, H Goto, T Taki, M Takagi, M Sanada, K Koh, J Takita, S Miyano, S Ogawa, A Ohara, M Tsuchida, A Manabe
In the treatment of childhood acute lymphoblastic leukemia (ALL), excess shortening of maintenance therapy resulted in high relapse rate, as shown by our previous trial, TCCSG L92-13, in which maintenance therapy was terminated at one year from initiation of treatment. In this study, we aimed to confirm the long-term outcome of L92-13, and to identify who can or cannot be cured by shorter duration of maintenance therapy. To obtain sentinel cytogenetics information which had been missed before, we performed genetic analysis with genomic microarray and target intron-capture sequencing from diagnostic bone marrow smear...
October 4, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27696391/prognostic-impact-of-pretreatment-cytogenetics-in-adult-philadelphia-chromosome-negative-acute-lymphoblastic-leukemia-in-the-era-of-minimal-residual-disease
#3
Ghayas C Issa, Hagop M Kantarjian, C Cameron Yin, Wei Qiao, Farhad Ravandi, Deborah Thomas, Nicholas J Short, Koji Sasaki, Guillermo Garcia-Manero, Tapan M Kadia, Jorge E Cortes, Naval Daver, Gautam Borthakur, Nitin Jain, Marina Konopleva, Issa Khouri, Partow Kebriaei, Richard E Champlin, Sherry Pierce, Susan M O'Brien, Elias Jabbour
BACKGROUND: The introduction of novel prognostic factors such as minimal residual disease (MRD) and genomic profiling has led to the reevaluation of the role of cytogenetics and other conventional factors in risk stratification for acute lymphoblastic leukemia (ALL). METHODS: This study assessed the impact of baseline cytogenetics on the outcomes of 428 adult patients with Philadelphia chromosome-negative ALL who were receiving frontline chemotherapy. Three hundred thirty patients (77%) were treated with hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone-based regimens, and 98 (23%) were treated with the augmented Berlin-Frankfurt-Munster regimen...
October 3, 2016: Cancer
https://www.readbyqxmd.com/read/27683039/clonal-and-microclonal-mutational-heterogeneity-in-high-hyperdiploid-acute-lymphoblastic-leukemia
#4
Adam J de Smith, Juhi Ojha, Stephen S Francis, Erica Sanders, Alyson A Endicott, Helen M Hansen, Ivan Smirnov, Amanda M Termuhlen, Kyle M Walsh, Catherine Metayer, Joseph L Wiemels
High hyperdiploidy (HD), the most common cytogenetic subtype of B-cell acute lymphoblastic leukemia (B-ALL), is largely curable but significant treatment-related morbidity warrants investigating the biology and identifying novel drug targets. Targeted deep-sequencing of 538 cancer-relevant genes was performed in 57 HD-ALL patients lacking overt KRAS and NRAS hotspot mutations and lacking common B-ALL deletions to enrich for discovery of novel driver genes. One-third of patients harbored damaging mutations in epigenetic regulatory genes, including the putative novel driver DOT1L (n=4)...
September 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/27614666/genomic-copy-number-analysis-of-her2-equivocal-breast-cancers
#5
Katherine B Geiersbach, Carlynn Willmore-Payne, Alexandra V Pasi, Christian N Paxton, Theresa L Werner, Xinjie Xu, Carl T Wittwer, H Evin Gulbahce, Erinn Downs-Kelly
OBJECTIVES: Guidelines for HER2 testing define an equivocal range for HER2 using two approved testing methods, immunohistochemistry (IHC) and in situ hybridization (ISH). We investigated genome-wide copy number alterations in this subgroup. METHODS: Ten breast cancers with equivocal HER2 status by both IHC and ISH were analyzed by single-nucleotide polymorphism cytogenomic microarray (SNP array). DNA ploidy analysis by flow cytometry was performed on nine cases with sufficient material remaining...
October 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27560110/clinical-impact-of-minimal-residual-disease-in-children-with-different-subtypes-of-acute-lymphoblastic-leukemia-treated-with-response-adapted-therapy
#6
C-H Pui, D Pei, S C Raimondi, E Coustan-Smith, S Jeha, C Cheng, W P Bowman, J T Sandlund, R C Ribeiro, J E Rubnitz, H Inaba, T A Gruber, W H Leung, J J Yang, J R Downing, W E Evans, M V Relling, D Campana
To determine the clinical significance of minimal residual disease (MRD) in patients with prognostically relevant subtypes of childhood acute lymphoblastic leukemia (ALL), we analyzed data from 488 patients treated in St Jude Total Therapy Study XV with treatment intensity based mainly on MRD levels measured during remission induction. MRD levels on day 19 predicted treatment outcome for patients with hyperdiploid >50 ALL, NCI standard-risk B-ALL or T-cell ALL, while MRD levels on day 46 were prognostic for patients with NCI standard-risk or high-risk B-ALL...
August 18, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27508939/baseline-characteristics-chromosomal-alterations-and-treatment-affecting-prognosis-of-deletion-17p-in-newly-diagnosed-myeloma
#7
Maximilian Merz, Thomas Hielscher, Anja Seckinger, Dirk Hose, Elias K Mai, Marc S Raab, Hartmut Goldschmidt, Anna Jauch, Jens Hillengass
Deletion 17p13, del(17p), is associated with poor outcome in myeloma but some patients show long-term survival. With the current study we intended to identify factors impacting outcome of such high risk patients. We analyzed 110 newly diagnosed, symptomatic patients with del(17p) detected by fluorescence in situ hybridization (FISH) in CD138-purified myeloma cells to identify prognostic factors for survival. Age >65 years, ISS III and elevated LDH negatively impacted survival. Patients with subclonal (10-60% of plasma cells) del(17p) had longer progression-free survival (PFS) than patients with del(17p) in >60% of plasma cells (26 vs...
August 10, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27463364/treatment-of-children-with-acute-lymphoblastic-leukemia-with-risk-group-based-intensification-and-omission-of-cranial-irradiation-a-korean-study-of-295-patients
#8
Jae Wook Lee, Seong-Koo Kim, Pil-Sang Jang, Dae-Chul Jeong, Nack-Gyun Chung, Bin Cho, Hack-Ki Kim
BACKGROUND: Recent studies indicate 70-80% event-free survival (EFS) for pediatric acute lymphoblastic leukemia (ALL). In this study, we report the outcome of 295 children and adolescents treated at our institution, with stratification into four risk groups, and omission of cranial irradiation in all patients. PROCEDURE: Patients were diagnosed from January 2005 to December 2011 and classified and treated as low, standard, high, and very high risk groups. A delayed intensification phase was given twice for high and very high risk groups...
November 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27393278/prognostic-impact-of-runx1-and-etv6-gene-copy-number-on-pediatric-b-cell-precursor-acute-lymphoblastic-leukemia-with-or-without-hyperdiploidy
#9
Nuket Yurur Kutlay, Esra Pekpak, Sule Altıner, Talia Ileri, Arzu Nedime Vicdan, Handan Dinçaslan, Elif Unal Ince, Fatma Ajlan Tukun
The ETV6/RUNX1 fusion gene is a valuable prognostic marker that is frequently observed in B-cell precursor acute lymphoblastic leukemia (B-cell ALL). However, the clinical significance of copy number aberrations in these genes remains unclear. In this study, the effects of various aberrations inETV6 and RUNX1 gene copy number on disease prognosis were evaluated in 21 pediatric patients diagnosed with B-cell ALL with/without t(12;21). The prognostic significance of changes in gene copy number of ETV6 or RUNX1 in the presence or absence of hyperdiploidy, trisomy 21, and t(12;21) translocation were also evaluated...
September 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27382557/a-retrospective-analysis-of-cytogenetic-alterations-in-patients-with-newly-diagnosed-multiple-myeloma-a-single-center-study-in-korea
#10
Shuhua Li, Hyeon-Ho Lim, Kwang-Sook Woo, Sung-Hyun Kim, Jin-Yeong Han
BACKGROUND: The accurate identification of cytogenetic abnormalities in multiple myeloma (MM) has become more important over recent years for the development of new diagnostic and prognostic markers. In this study, we retrospectively analyzed the cytogenetic aberrations in MM cases as an initial assessment in a single institute. METHODS: We reviewed the cytogenetic results from 222 patients who were newly diagnosed with MM between January 2000 and December 2015...
June 2016: Blood Research
https://www.readbyqxmd.com/read/27341996/chromosomal-aberrations-in-childhood-acute-lymphoblastic-leukemia-15-year-single-center-experience
#11
Marie Jarosova, Jana Volejnikova, Ilona Porizkova, Milena Holzerova, Dagmar Pospisilova, Zbynek Novak, Jana Vrbkova, Vladimir Mihal
Genetic analysis of leukemic cells significantly impacts prognosis and treatment stratification in childhood acute lymphoblastic leukemia (ALL). Our retrospective single center study of 86 children with ALL enrolled into three consecutive treatment protocols (ALL-BFM 90, ALL-BFM 95 and ALL IC-BFM 2002) between 1991 and 2007 demonstrates the importance of conventional cytogenetics and fluorescence in situ hybridization (FISH). Cytogenetic and FISH examinations were performed successfully in 82/86 (95.3%) patients and chromosomal changes were detected in 78 of the 82 (95...
July 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27229005/integration-of-genetic-and-clinical-risk-factors-improves-prognostication-in-relapsed-childhood-b-cell-precursor-acute-lymphoblastic-leukemia
#12
Julie A E Irving, Amir Enshaei, Catriona A Parker, Rosemary Sutton, Roland P Kuiper, Amy Erhorn, Lynne Minto, Nicola C Venn, Tamara Law, Jiangyan Yu, Claire Schwab, Rosanna Davies, Elizabeth Matheson, Alysia Davies, Edwin Sonneveld, Monique L den Boer, Sharon B Love, Christine J Harrison, Peter M Hoogerbrugge, Tamas Revesz, Vaskar Saha, Anthony V Moorman
Somatic genetic abnormalities are initiators and drivers of disease and have proven clinical utility at initial diagnosis. However, the genetic landscape and its clinical utility at relapse are less well understood and have not been studied comprehensively. We analyzed cytogenetic data from 427 children with relapsed B-cell precursor ALL treated on the international trial, ALLR3. Also we screened 238 patients with a marrow relapse for selected copy number alterations (CNAs) and mutations. Cytogenetic risk groups were predictive of outcome postrelapse and survival rates at 5 years for patients with good, intermediate-, and high-risk cytogenetics were 68%, 47%, and 26%, respectively (P < ...
August 18, 2016: Blood
https://www.readbyqxmd.com/read/27161658/genome-wide-single-nucleotide-polymorphism-array-analysis-improves-prognostication-of-acute-lymphoblastic-leukemia-lymphoma
#13
Yunhong Wang, Sue Miller, Diane Roulston, Dale Bixby, Lina Shao
Chromosomal abnormalities are important for the risk stratification of acute lymphoblastic leukemia/lymphoma (ALL). However, approximately 30% of pediatric and 50% of adult patients lack abnormalities with clinical relevance by traditional cytogenetic analysis. We integrated cytogenetic, fluorescence in situ hybridization, and whole-genome single-nucleotide polymorphism array results from 60 consecutive clinical ALL cases. By cytogenetic and/or fluorescence in situ hybridization analyses, recurring abnormalities with clinical relevance were observed in 33 B-cell ALL (B-ALL), including t(9;22), hyperdiploidy, KMT2A translocation, ETV6-RUNX1, intrachromosomal amplification of chromosome 21, near haploidy or low hypodiploidy, and t(8;22)...
July 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27157252/genomewide-profiling-of-copy-number-alteration-in-monoclonal-gammopathy-of-undetermined-significance
#14
Aneta Mikulasova, Jan Smetana, Marketa Wayhelova, Helena Janyskova, Viera Sandecka, Zuzana Kufova, Martina Almasi, Jiri Jarkovsky, Evzen Gregora, Petr Kessler, Marek Wrobel, Brian A Walker, Christopher P Wardell, Gareth J Morgan, Roman Hajek, Petr Kuglik
Monoclonal gammopathy of undetermined significance (MGUS) is a benign condition with an approximate 1% annual risk of symptomatic plasma cell disorder development, mostly to multiple myeloma (MM). We performed genomewide screening of copy-number alterations (CNAs) in 90 MGUS and 33 MM patients using high-density DNA microarrays. We identified CNAs in a smaller proportion of MGUS (65.6%) than in MM (100.0%, P = 1.31 × 10(-5) ) and showed median number of CNAs is lower in MGUS (3, range 0-22) than in MM (13, range 4-38, P = 1...
December 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27012075/-the-prognostic-impact-of-chromosomal-aberrations-in-tumor-tissue-biopsies-from-patients-with-diffuse-large-b-cell-lymphoma
#15
Ibrahim Fahoum, Mira Ziv, Hanna Bar-El, Dina Attias, Tamar Tadmor
INTRODUCTION: Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin's lymphoma (NHL), and constitutes 30-40% of all cases in adults. DLBCL is heterogeneous in terms of its clinical course, and related molecular and genetic features. In the current era of appropriate chemo-immunotherapy, approximately 50%-60% of patients are cured after treatment. DLBCL is characterized by numerous chromosomal changes which are encountered in a high proportion of cases. OBJECTIVE: To examine whether the identification of chromosomal changes at time of diagnosis has prognostic significance in DLBCL...
January 2016: Harefuah
https://www.readbyqxmd.com/read/27002115/treatment-of-multiple-myeloma-with-high-risk-cytogenetics-a-consensus-of-the-international-myeloma-working-group
#16
Pieter Sonneveld, Hervé Avet-Loiseau, Sagar Lonial, Saad Usmani, David Siegel, Kenneth C Anderson, Wee-Joo Chng, Philippe Moreau, Michel Attal, Robert A Kyle, Jo Caers, Jens Hillengass, Jesús San Miguel, Niels W C J van de Donk, Hermann Einsele, Joan Bladé, Brian G M Durie, Hartmut Goldschmidt, María-Victoria Mateos, Antonio Palumbo, Robert Orlowski
The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were identified that confer poor prognosis. The prognosis of patients showing these abnormalities may vary with the choice of therapy. Treatment strategies have shown promise for HR cytogenetic diseases, such as proteasome inhibition in combination with lenalidomide/pomalidomide, double autologous stem cell transplant plus bortezomib, or combination of immunotherapy with lenalidomide or pomalidomide...
June 16, 2016: Blood
https://www.readbyqxmd.com/read/26855057/acute-lymphoblastic-leukemia-in-the-context-of-rasopathies
#17
Hélène Cavé, Aurélie Caye, Marion Strullu, Nathalie Aladjidi, Cédric Vignal, Alice Ferster, Françoise Méchinaud, Carine Domenech, Filomena Pierri, Audrey Contet, Valère Cacheux, Julie Irving, Christian Kratz, Jacqueline Clavel, Alain Verloes
Noonan syndrome is associated with a range of malignancies including acute lymphoblastic leukemia (ALL). However, little information is available regarding the frequency, natural history, characteristics and prognosis of ALL in Noonan syndrome or RASopathies in general. Cross-referencing data from a large prospective cohort of 1176 patients having a molecularly confirmed RASopathy with data from the French childhood cancer registry allowed us to identify ALL in 6 (0.5%) patients including 4/778 (0.5%) with a germline PTPN11 mutation and 2/94 (2...
March 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26847577/frequency-of-chromosome-17-polysomy-in-relation-to-cep17-copy-number-in-a-large-breast-cancer-cohort
#18
Vladimira Koudelakova, Radek Trojanec, Jana Vrbkova, Sandra Donevska, Katerina Bouchalova, Zdenek Kolar, Lakshman Varanasi, Marian Hajduch
Eligibility to anti-HER2 therapy for breast tumors strictly depends on demonstrating HER2 overexpression (by immunohistochemistry) or HER2 gene amplification by in situ hybridization (ISH), usually defined by the ratio of HER2 gene to chromosome 17 centromere (CEP17) copies. However, the CEP17 copy number increase (CNI) has been proven responsible for misleading HER2 FISH results and recent small cohort studies suggest that chromosome 17 polysomy is actually very rare. Here we investigated by FISH the frequency of true chromosome 17 polysomy in a consecutive cohort of 5,477 invasive breast cancer patients...
May 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/26773847/patterns-and-frequencies-of-acquired-and-constitutional-uniparental-isodisomies-in-pediatric-and-adult-b-cell-precursor-acute-lymphoblastic-leukemia
#19
Kristina B Lundin, Linda Olsson, Setareh Safavi, Andrea Biloglav, Kajsa Paulsson, Bertil Johansson
Single nucleotide polymorphism (SNP) arrays are increasingly being used in clinical routine for genetic analysis of pediatric B-cell precursor acute lymphoblastic leukemias (BCP ALL). Because constitutional DNA is not readily available as a control at the time of diagnosis, it is important to be able to distinguish between acquired and constitutional aberrations in a diagnostic setting. In the present study we focused on uniparental isodisomies (UPIDs). SNP array analyses of 143 pediatric and 38 adult B-cell precursor acute lymphoblastic leukemias and matched remission samples revealed acquired whole chromosome or segmental UPIDs (wUPIDs, sUPIDs) in 32 cases (18%), without any age- or gender-related frequency differences...
May 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/26709890/identification-of-patient-subgroups-with-markedly-disparate-rates-of-mycn-amplification-in-neuroblastoma-a-report-from-the-international-neuroblastoma-risk-group-project
#20
Daria Thompson, Kieuhoa T Vo, Wendy B London, Matthias Fischer, Peter F Ambros, Akira Nakagawara, Garrett M Brodeur, Katherine K Matthay, Steven G DuBois
BACKGROUND: MYCN gene amplification (MNA) is a hallmark of aggressive neuroblastoma. This study was performed to determine univariate and multivariate predictors of tumor MNA. METHODS: Data from the International Neuroblastoma Risk Group were analyzed for a subset of 7102 patients with known MYCN status. Chi-square testing and logistic regression were used to identify univariate and multivariate predictors of MYCN status. Recursive partitioning was used to identify groups of patients with maximal differences in rates of MNA...
March 15, 2016: Cancer
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