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https://www.readbyqxmd.com/read/29784935/a-causal-mechanism-for-childhood-acute-lymphoblastic-leukaemia
#1
REVIEW
Mel Greaves
In this Review, I present evidence supporting a multifactorial causation of childhood acute lymphoblastic leukaemia (ALL), a major subtype of paediatric cancer. ALL evolves in two discrete steps. First, in utero initiation by fusion gene formation or hyperdiploidy generates a covert, pre-leukaemic clone. Second, in a small fraction of these cases, the postnatal acquisition of secondary genetic changes (primarily V(D)J recombination-activating protein (RAG) and activation-induced cytidine deaminase (AID)-driven copy number alterations in the case of ETS translocation variant 6 (ETV6)-runt-related transcription factor 1 (RUNX1)+ ALL) drives conversion to overt leukaemia...
May 21, 2018: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/29748040/cytogenetic-profile-of-moroccan-pediatric-acute-lymphoblastic-leukemia-analysis-of-155-cases-with-a-review-of-the-literature
#2
Zahra Takki Chebihi, Aziza Belkhayat, Elbekkay Chadli, Latifa Hilal, Hanaa Skhoun, Laila Hessissen, Mohamed El Khorassani, Maria El Kababri, Amina Kili, Mohammed Khattab, Youssef Bakri, Nadia Dakka
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common malignancy in children, with a peak incidence at 2 to 3 years of age and accounting for almost 30% of all cancers in this age group. It is well established that the identification of cytogenetic abnormalities is highly relevant for the prognosis of and therapeutic decisions in ALL. The purpose of the present study was to define the frequency of recurrent chromosomal abnormalities of ALL in Moroccan patients referred exclusively to the BIOLAB Laboratory of the Children's Hospital of Rabat during a 4-year period and compare our findings to the reported data...
April 25, 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29589281/treatment-outcome-of-children-with-acute-lymphoblastic-leukemia-the-tokyo-children-s-cancer-study-group-tccsg-study-l04-16
#3
Hiroyuki Takahashi, Ryosuke Kajiwara, Motohiro Kato, Daisuke Hasegawa, Daisuke Tomizawa, Yasushi Noguchi, Kazutoshi Koike, Daisuke Toyama, Hiromasa Yabe, Michiko Kajiwara, Junya Fujimura, Manabu Sotomatsu, Setsuo Ota, Miho Maeda, Hiroaki Goto, Yoko Kato, Tetsuya Mori, Takeshi Inukai, Hiroyuki Shimada, Keitaro Fukushima, Chitose Ogawa, Atsushi Makimoto, Takashi Fukushima, Kentaro Ohki, Katsuyoshi Koh, Nobutaka Kiyokawa, Atsushi Manabe, Akira Ohara
The survival rate of children with acute lymphoblastic leukemia (ALL) has increased to approximately 90% after substantial progress in risk-oriented treatment strategies. Between 2005 and 2013, the Tokyo Children's Cancer Study Group (TCCSG) conducted a risk-oriented, non-randomized study, L04-16. The principal aim of this study was to assemble background characteristics and treatment outcomes, and gather genetic information on leukemic cells under central diagnosis. This report outlines the background characteristics and treatment outcomes of 1033 children with ALL treated according to a TCCSG platform...
March 27, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29563506/a-multiple-myeloma-specific-capture-sequencing-platform-discovers-novel-translocations-and-frequent-risk-associated-point-mutations-in-igll5
#4
Brian S White, Irena Lanc, Julie O'Neal, Harshath Gupta, Robert S Fulton, Heather Schmidt, Catrina Fronick, Edward A Belter, Mark Fiala, Justin King, Greg J Ahmann, Mary DeRome, Elaine R Mardis, Ravi Vij, John F DiPersio, Joan Levy, Daniel Auclair, Michael H Tomasson
Multiple myeloma (MM) is a disease of copy number variants (CNVs), chromosomal translocations, and single-nucleotide variants (SNVs). To enable integrative studies across these diverse mutation types, we developed a capture-based sequencing platform to detect their occurrence in 465 genes altered in MM and used it to sequence 95 primary tumor-normal pairs to a mean depth of 104×. We detected cases of hyperdiploidy (23%), deletions of 1p (8%), 6q (21%), 8p (17%), 14q (16%), 16q (22%), and 17p (4%), and amplification of 1q (19%)...
March 21, 2018: Blood Cancer Journal
https://www.readbyqxmd.com/read/29528261/influence-of-il15-gene-variations-on-the-clinical-features-treatment-response-and-risk-of-developing-childhood-acute-lymphoblastic-leukemia-in-latvian-population
#5
Dmitrijs Rots, Madara Kreile, Sergejs Nikulshin, Zhanna Kovalova, Linda Gailite
Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Modern treatment protocols allow achievement of long-term event-free survival rates in up to 85% of cases, although the treatment response varies among different patient groups. It is hypothesized that treatment response is influenced by the IL15 gene variations, although research results are conflicting. To analyze IL15 gene variations influence treatment response, clinical course and the risk of developing ALL we performed a case-control and family-based study...
February 2018: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29489754/the-landscape-of-genomic-alterations-across-childhood-cancers
#6
Susanne N Gröbner, Barbara C Worst, Joachim Weischenfeldt, Ivo Buchhalter, Kortine Kleinheinz, Vasilisa A Rudneva, Pascal D Johann, Gnana Prakash Balasubramanian, Maia Segura-Wang, Sebastian Brabetz, Sebastian Bender, Barbara Hutter, Dominik Sturm, Elke Pfaff, Daniel Hübschmann, Gideon Zipprich, Michael Heinold, Jürgen Eils, Christian Lawerenz, Serap Erkek, Sander Lambo, Sebastian Waszak, Claudia Blattmann, Arndt Borkhardt, Michaela Kuhlen, Angelika Eggert, Simone Fulda, Manfred Gessler, Jenny Wegert, Roland Kappler, Daniel Baumhoer, Stefan Burdach, Renate Kirschner-Schwabe, Udo Kontny, Andreas E Kulozik, Dietmar Lohmann, Simone Hettmer, Cornelia Eckert, Stefan Bielack, Michaela Nathrath, Charlotte Niemeyer, Günther H Richter, Johannes Schulte, Reiner Siebert, Frank Westermann, Jan J Molenaar, Gilles Vassal, Hendrik Witt, Birgit Burkhardt, Christian P Kratz, Olaf Witt, Cornelis M van Tilburg, Christof M Kramm, Gudrun Fleischhack, Uta Dirksen, Stefan Rutkowski, Michael Frühwald, Katja von Hoff, Stephan Wolf, Thomas Klingebiel, Ewa Koscielniak, Pablo Landgraf, Jan Koster, Adam C Resnick, Jinghui Zhang, Yanling Liu, Xin Zhou, Angela J Waanders, Danny A Zwijnenburg, Pichai Raman, Benedikt Brors, Ursula D Weber, Paul A Northcott, Kristian W Pajtler, Marcel Kool, Rosario M Piro, Jan O Korbel, Matthias Schlesner, Roland Eils, David T W Jones, Peter Lichter, Lukas Chavez, Marc Zapatka, Stefan M Pfister
Pan-cancer analyses that examine commonalities and differences among various cancer types have emerged as a powerful way to obtain novel insights into cancer biology. Here we present a comprehensive analysis of genetic alterations in a pan-cancer cohort including 961 tumours from children, adolescents, and young adults, comprising 24 distinct molecular types of cancer. Using a standardized workflow, we identified marked differences in terms of mutation frequency and significantly mutated genes in comparison to previously analysed adult cancers...
March 15, 2018: Nature
https://www.readbyqxmd.com/read/29382495/-cytopathologic-features-of-childhood-acute-leukemia-at-the-hospital-de-especialidades-pedi%C3%A3-tricas-chiapas-mexico
#7
José Luis Lepe-Zúñiga, Francisco Javier Jerónimo-López, Jorge Gregorio Hernández-Orantes
BACKGROUND: Childhood acute leukemia cytological features are unknown in Chiapas, Mexico. Defining these features is important because this is a relatively isolated population with high consanguinity index, and these aspects could determine differences in responses to treatment and outcome. METHODS: Eighty-one childhood acute leukemia cases treated at the Hospital de Especialidades Pediátricas in Chiapas were characterized by morphology, immunophenotype, genotype, initial risk assignment and status at the time of the study...
March 2017: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29375670/chromothripsis-18-in-multiple-myeloma-patient-with-rapid-extramedullary-relapse
#8
Jan Smetana, Jan Oppelt, Martin Štork, Luděk Pour, Petr Kuglík
Background: Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation: In our case, we report a 62 year female patient with rapid progression of multiple myeloma (MM) into extramedullary disease and short overall survival (OS = 23 months)...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29214761/clinicopathological-characteristics-of-hyperdiploidy-with-high-risk-cytogenetics-in-multiple-myeloma
#9
Naery Yang, Yeung Chul Mun, Chu Myong Seong, Hee Jin Huh, Jungwon Huh
In multiple myeloma (MM), hyperdiploidy (HD) is known to impart longer overall survival. However, it is unclear whether coexistent HD ameliorates the adverse effects of known high-risk cytogenetics in MM patients. To address this issue, we investigated the clinicopathological characteristics of HD with high-risk cytogenetics in MM. Ninety-seven patients with MM were included in the study. For metaphase cytogenetics (MC), unstimulated cells from bone marrow aspirates were cultured for either 24 or 48 hours. To detect HD by interphase fluorescence in situ hybridization (iFISH), we assessed trisomies of chromosomes 5, 7, 9, 11, 15, and 17...
March 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29125853/whole-genome-dna-methylation-characteristics-in-pediatric-precursor-b-cell-acute-lymphoblastic-leukemia-bcp-all
#10
Radosław Chaber, Artur Gurgul, Grażyna Wróbel, Olga Haus, Anna Tomoń, Jerzy Kowalczyk, Tomasz Szmatoła, Igor Jasielczuk, Blanka Rybka, Renata Ryczan-Krawczyk, Ewa Duszeńko, Sylwia Stąpor, Krzysztof Ciebiera, Sylwia Paszek, Natalia Potocka, Christopher J Arthur, Izabela Zawlik
In addition to genetic alterations, epigenetic abnormalities have been shown to underlie the pathogenesis of acute lymphoblastic leukemia (ALL)-the most common pediatric cancer. The purpose of this study was to characterize the whole genome DNA methylation profile in children with precursor B-cell ALL (BCP ALL) and to compare this profile with methylation observed in normal bone marrow samples. Additional efforts were made to correlate the observed methylation patterns with selected clinical features. We assessed DNA methylation from bone marrow samples obtained from 38 children with BCP ALL at the time of diagnosis along with 4 samples of normal bone marrow cells as controls using Infinium MethylationEPIC BeadChip Array...
2017: PloS One
https://www.readbyqxmd.com/read/28853218/mutational-status-of-nras-kras-and-ptpn11-genes-is-associated-with-genetic-cytogenetic-features-in-children-with-b-precursor-acute-lymphoblastic-leukemia
#11
Der-Cherng Liang, Shih-Hsiang Chen, Hsi-Che Liu, Chao-Ping Yang, Ting-Chi Yeh, Tang-Her Jaing, Iou-Jih Hung, Jen-Yin Hou, Tung-Huei Lin, Chun-Hui Lin, Lee-Yung Shih
BACKGROUND: We aimed to investigate the frequencies and the association with genetic/cytogenetic abnormalities as well as prognostic relevance of RAS pathway mutations in Taiwanese children with B-precursor acute lymphoblastic leukemia (ALL), the largest cohort in Asians. PROCEDURE: Between 1995 and 2012, marrow samples at diagnosis from 535 children were studied for NRAS, KRAS, and PTPN11 mutations. The mutational status of each gene was correlated with the clinico-hematological features, recurrent genetic abnormalities, and outcomes for those treated with TPOG-ALL-2002 protocol (n = 346)...
February 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28830801/presence-of-fluorescent-in-situ-hybridization-abnormalities-is-associated-with-plasma-cell-burden-in-light-chain-amyloidosis
#12
Lindsay Hammons, Ruta Brazauskas, Marcelo Pasquini, Mehdi Hamadani, Parameswaran Hari, Anita D'Souza
OBJECTIVE/BACKGROUND: To assess abnormalities found on CD138-enriched fluorescent in situ hybridization (FISH) studies on pretreated bone marrow in systemic amyloid light-chain (AL) amyloidosis and correlate findings between these abnormalities with organ involvement and 1-year survival. METHODS: We reviewed 107 patients with systemic AL to identify the impact of a diagnostic FISH study done on plasma cell clones in our institution between January 2010 and January 2015; 77 had pretreatment testing performed...
August 16, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28819864/molecular-processes-involved-in-b-cell-acute-lymphoblastic-leukaemia
#13
REVIEW
Camille Malouf, Katrin Ottersbach
B cell leukaemia is one of the most frequent malignancies in the paediatric population, but also affects a significant proportion of adults in developed countries. The majority of infant and paediatric cases initiate the process of leukaemogenesis during foetal development (in utero) through the formation of a chromosomal translocation or the acquisition/deletion of genetic material (hyperdiploidy or hypodiploidy, respectively). This first genetic insult is the major determinant for the prognosis and therapeutic outcome of patients...
February 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28811744/cytogenetic-profile-and-flt3-gene-mutations-of-childhood-acute-lymphoblastic-leukemia
#14
Nawaf Alkhayat, Yasser Elborai, Omer Al Sharif, Mohammad Al Shahrani, Omar Alsuhaibani, Mohammed Awad, Hatem Elghezal, Inesse Ben-Abdallah Bouhajar, Mona Alfaraj, Eman Al Mussaed, Fahad Alabbas, Ghaleb Elyamany
BACKGROUND: Childhood acute lymphoblastic leukemia (ALL) is characterized by recurrent genetic aberrations. The identification of those abnormalities is clinically important because they are considered significant risk-stratifying markers. AIMS: There are insufficient data of cytogenetic profiles in Saudi Arabian patients with childhood ALL leukemia. We have examined a cohort of 110 cases of ALL to determine the cytogenetic profiles and prevalence of FLT3 mutations and analysis of the more frequently observed abnormalities and its correlations to other biologic factors and patient outcomes and to compare our results with previously published results...
2017: Clinical Medicine Insights. Oncology
https://www.readbyqxmd.com/read/28736295/digital-multiplex-ligation-dependent-probe-amplification-for-detection-of-key-copy-number-alterations-in-t-and-b-cell-lymphoblastic-leukemia
#15
Anne Benard-Slagter, Ilse Zondervan, Karel de Groot, Farzaneh Ghazavi, Virinder Sarhadi, Pieter Van Vlierberghe, Barbara De Moerloose, Claire Schwab, Kim Vettenranta, Christine J Harrison, Sakari Knuutila, Jan Schouten, Tim Lammens, Suvi Savola
Recurrent and clonal genetic alterations are characteristic of different subtypes of T- and B-cell lymphoblastic leukemia (ALL), and several subtypes are strong independent predictors of patient outcome. A next-generation sequencing-based multiplex ligation-dependent probe amplification variant (digitalMLPA) has been developed enabling simultaneous detection of copy number alterations (CNAs) of up to 1000 target sequences. This novel digitalMLPA assay was designed and optimized to detect CNAs of 56 key target genes and regions in ALL...
July 19, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28606225/-clinical-characteristics-and-prognostic-analysis-of-children-and-adolescents-over-10-years-of-age-with-acute-lymphoblastic-leukemia
#16
Jun Wu, Ai-Dong Lu, Le-Ping Zhang
OBJECTIVE: To explore the clinical characteristics and prognosis of children and adolescents over 10 years of age with acute lymphoblastic leukemia (ALL). METHODS: A total of 86 newly diagnosed ALL children and adolescents over 10 years of age (62 cases of B-ALL and 24 cases of T-ALL) were enrolled. Clinical characteristics, therapeutic effect and prognostic factors were retrospectively analyzed. Event-free survival (EFS) and overall survival (OS) rates were estimated by the Kaplan-Meier method...
June 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28578457/non-seminomatous-mediastinal-germ-cell-tumor-and-acute-megakaryoblastic-leukemia
#17
REVIEW
Sarbajit Mukherjee, Sami Ibrahimi, Sonia John, Mohammed Muqeet Adnan, Teresa Scordino, Mohammad O Khalil, Mohamad Cherry
The association between mediastinal germ cell tumors (MGCT) and acute megakaryoblastic (M7) leukemia has been known for many years. We hereby present this review to better characterize the coexistence of these entities as well as the salient features, the treatment options, and the overall prognosis. A search of PUBMED, Medline, and EMBASE databases via OVID engine for primary articles and case reports under keywords "germ cell tumors" and "acute myeloid leukemia" revealed a total of 26 cases in English that reported MGCT and M7 leukemia...
September 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28550183/the-spectrum-of-somatic-mutations-in-monoclonal-gammopathy-of-undetermined-significance-indicates-a-less-complex-genomic-landscape-than-that-in-multiple-myeloma
#18
Aneta Mikulasova, Christopher P Wardell, Alexander Murison, Eileen M Boyle, Graham H Jackson, Jan Smetana, Zuzana Kufova, Ludek Pour, Viera Sandecka, Martina Almasi, Pavla Vsianska, Evzen Gregora, Petr Kuglik, Roman Hajek, Faith E Davies, Gareth J Morgan, Brian A Walker
Monoclonal gammopathy of undetermined significance is a pre-malignant precursor of multiple myeloma with a 1% risk of progression per year. Although targeted analyses have shown the presence of specific genetic abnormalities such as IGH translocations, RB1 deletion, 1q gain, hyperdiploidy or RAS gene mutations, little is known about the molecular mechanism of malignant transformation. We performed whole exome sequencing together with comparative genomic hybridization plus single nucleotide polymorphism array analysis in 33 flow-cytometry-separated abnormal plasma cell samples from patients with monoclonal gammopathy of undetermined significance to describe somatic gene mutations and chromosome changes at the genome-wide level...
September 2017: Haematologica
https://www.readbyqxmd.com/read/28500740/children-with-low-risk-acute-lymphoblastic-leukemia-are-at-highest-risk-of-second-cancers
#19
Stine N Nielsen, Frank Eriksson, Susanne Rosthoej, Mette K Andersen, Erik Forestier, Henrik Hasle, Lisa L Hjalgrim, Ann Aasberg, Jonas Abrahamsson, Mats Heyman, Ólafur G Jónsson, Kaie Pruunsild, Goda E Vaitkeviciené, Kim Vettenranta, Kjeld Schmiegelow
BACKGROUND: The improved survival rates for childhood acute lymphoblastic leukemia (ALL) may be jeopardized by the development of a second cancer, which has been associated with thiopurine therapy. PROCEDURE: We retrospectively analyzed three sequential Nordic Society of Paediatric Haematology and Oncology's protocols characterized by increasing intensity of thiopurine-based maintenance therapy. We explored the risk of second cancer in relation to protocols, risk group, thiopurine methyltransferase (TPMT) activity, ALL high hyperdiploidy (HeH), and t(12;21)[ETV6/RUNX1]...
October 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28436581/pediatric-acute-lymphoblastic-leukemia-with-t-1-19-tcf3-pbx1-in-taiwan
#20
MULTICENTER STUDY
Hsiu-Ju Yen, Shih-Hsiang Chen, Tsung-Yen Chang, Chao-Ping Yang, Dong-Tsamn Lin, Iou-Jih Hung, Kai-Hsin Lin, Jiann-Shiuh Chen, Chih-Cheng Hsiao, Tai-Tsung Chang, Te-Kao Chang, Ching-Tien Peng, Ming-Tsan Lin, Tang-Her Jaing, Hsi-Che Liu, Shiann-Tarng Jou, Meng-Yao Lu, Chao-Neng Cheng, Jiunn-Ming Sheen, Shyh-Shin Chiou, Giun-Yi Hung, Kang-Hsi Wu, Ting-Chi Yeh, Shih-Chung Wang, Rong-Long Chen, Hsiu-Hao Chang, Yung-Li Yang, Shu-Huey Chen, Shin-Nan Cheng, Yu-Hsiang Chang, Bow-Wen Chen, Yuh-Lin Hsieh, Fang-Liang Huang, Wan-Ling Ho, Jinn-Li Wang, Chia-Yau Chang, Yu-Hua Chao, Pei-Chin Lin, Yu-Chieh Chen, Yu-Mei Liao, Tung-Huei Lin, Lee-Yung Shih, Der-Cherng Liang
BACKGROUND: In childhood acute lymphoblastic leukemia (ALL), t(1;19)(q23;p13.3) with TCF3-PBX1 fusion is one of the most frequent translocations. Historically, it has been associated with poor prognosis. Intensive treatment, however, has improved its outcome. We determined the outcome of children with this genotype treated with contemporary intensive chemotherapy in Taiwan. PROCEDURE: In Taiwan Pediatric Oncology Group 2002 ALL studies, genotypes were determined by cytogenetic analysis and/or reverse transcriptase polymerase chain reaction assay...
October 2017: Pediatric Blood & Cancer
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