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https://www.readbyqxmd.com/read/29158114/early-relapse-for-multiple-myeloma-patients-undergoing-single-autologous-stem-cell-therapy-a-single-center-experience
#1
Holly Lee, Peter Duggan, Ahsan Chaudhry, Paola Neri, Jason Tay, Fariborz Rashid-Kolvear, Nizar J Bahlis, Victor H Jimenez-Zepeda
INTRODUCTION: Multiple myeloma is a heterogeneous disease with diverse clinical courses and patient outcomes. Although the introduction of novel agents has improved the overall survival (OS) of multiple myeloma patients, reports have highlighted that a subset of patients persists who experience early relapse (ER) and whose prognosis is significantly poorer than that of patients with a longer therapy response. METHODS: The purpose of the present study was to understand the effect of ER on OS and identify other predictors of OS...
November 1, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29158064/mirna-223-functions-as-both-prognostic-biomarker-and-tumor-suppressor-in-mantle-cell-lymphoma-through-targeting-sox11
#2
REVIEW
Keshu Zhou, Xiaoyan Feng, Yanying Wang, Yanyan Liu, Long Tian, Wenli Zuo, Shuhua Yi, Xudong Wei, Yongping Song, Lugui Qiu
Mantle cell lymphoma (MCL) is an aggressive lymphoid malignance characterized by cytogenetic aberration of t(11;14), although it is not the prerequisite. Until now, the pathogenesis of MCL remains not fully interpreted. Our current study showed that miR-223 was down-regulated in purified CD19+ lymphocytes from MCL patients (n=21) compared with that of normal donors (n=20). In addition, patients with high-risk mantle international prognostic index, elevated LDH, performance status>2 were more likely to have much lower miR-223 expression...
November 17, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/29156680/vemurafenib-resistance-via-de-novo-rbm-genes-mutations-and-chromosome-5-aberrations-is-overcome-by-combined-therapy-with-palbociclib-in-thyroid-carcinoma-with-braf-v600e
#3
Zeus A Antonello, Nancy Hsu, Manoj Bhasin, Giovanni Roti, Mukta Joshi, Paul Van Hummelen, Emily Ye, Agnes S Lo, S Ananth Karumanchi, Christine R Bryke, Carmelo Nucera
Purpose: Papillary thyroid carcinoma (PTC) is the most frequent endocrine tumor. BRAF(V600E) represents the PTC hallmark and is targeted with selective inhibitors (e.g. vemurafenib). Although there have been promising results in clinical trials using these inhibitors, most patients develop resistance and progress. Tumor clonal diversity is proposed as one mechanism underlying drug resistance. Here we have investigated mechanisms of primary and secondary resistance to vemurafenib in BRAF(WT/V600E)-positive PTC patient-derived cells with P16(-/-) (CDKN2A(-/-))...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156200/do-cytogenetics-affect-the-post-remission-strategy-for-older-patients-with-aml-in-cr1
#4
REVIEW
James M Foran
Data have shown that intensified cytarabine in consolidation for treatment of acute myeloid leukemia (AML) does not equally benefit patients older than 60 years, and older patients experience significantly more neurotoxicity than younger patients. In addition, older patients are more likely to have abnormal or unfavorable cytogenetics, which also tend to confer limited efficacy with intensified cytarabine. This poses a treatment dilemma as to the best post remission therapy to treat older patients. This review explores some of the consolidation treatment strategies and options available for the older AML patient...
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29155042/imaging-flow-cytometry-to-assess-chromosomal-abnormalities-in-chronic-lymphocytic-leukaemia
#5
Henry Hui, Kathryn A Fuller, Hun Chuah, James Liang, Hasib Siddiqi, Dejan Radeski, Wendy N Erber
Chronic Lymphocytic Leukaemia (CLL), the most common leukaemia in the Western world, has a characteristic phenotype and prognosis largely defined by the presence of cytogenetic aberrations. The gold standard for detecting these cytogenetic abnormalities is interphase fluorescence in situ hybridisation (FISH) performed on cell smears or tissue sections on glass slides. Fluorescently labelled DNA probes bind to specific chromosomal regions and the signal detected by fluorescent microscopy. Generally only 200 cells are assessed and the limit of sensitivity is 3% positive cells...
November 15, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/29155023/therapy-related-myeloid-neoplasm-in-an-18-year-old-boy-with-b-lymphoblastic-leukemia
#6
Xin Qing, Eduard Panosyan, ChangjunYue, Ping Ji, Moran Gotesman, Samuel French, Junchao Cai
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Acute myeloid leukemia or myelodysplastic syndrome during the course of ALL is a rare entity. Some of these cases are therapy-related while the others occur due to lineage switch. The correct diagnosis relies on comparing the immunophenotypes and cytogenetic/molecular alterations of the myeloid neoplasm and the ALL. We present the clinical, pathologic and cytogenetic features of a case of an 18-year-old male with prior treatment for B-lymphoblastic leukemia (B-ALL) who developed therapy-related myeloid neoplasm (t-MN) 4-5years after his initial diagnosis of B-ALL...
November 16, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29154021/diagnosis-of-fanconi-anaemia-by-ionising-radiation-or-mitomycin-c-induced-micronuclei
#7
Flavia Zita Francies, Rosalind Wainwright, Janet Poole, Kim De Leeneer, Ilse Coene, Greet Wieme, Hélène A Poirel, Bénédicte Brichard, Stephanie Vermeulen, Anne Vral, Jacobus Slabbert, Kathleen Claes, Ans Baeyens
Fanconi Anaemia (FA) is an autosomal recessive disorder characterised by defects in DNA repair, associated with chromosomal instability and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (MMC). The FA repair pathway involves complex DNA repair mechanisms crucial for genomic stability. Deficiencies in DNA repair genes give rise to chromosomal radiosensitivity. FA patients have shown increased clinical radiosensitivity by exhibiting adverse normal tissue side-effects. The study aimed to investigate chromosomal radiosensitivity of homozygous and heterozygous carriers of FA mutations using three micronucleus (MN) assays...
November 8, 2017: DNA Repair
https://www.readbyqxmd.com/read/29153093/next-generation-sequencing-and-molecular-cytogenetic-characterization-of-etv6-lyn-fusion-due-to-chromosomes-1-8-and-12-rearrangement-in-acute-myeloid-leukemia
#8
Edmond S K Ma, Thomas S K Wan, Chun Hang Au, Dona N Ho, Shing Yan Ma, Margaret H L Ng, Tsun Leung Chan
In a newly diagnosed patient with acute myeloid leukemia (AML) and complex cytogenetics and negative for gene mutations associated with myeloid neoplasms, RNA sequencing by next-generation sequencing (NGS) through a large cancer-related gene panel showed ETV6-LYN leukemic fusion transcript. Breakpoint analysis of the NGS reads showed fusion of exon 5 of the ETV6 gene to exon 8 of the LYN gene. Metaphase fluorescence in situ hybridization (FISH) inferred a four-break rearrangement of three chromosomes, namely 1, 8 and 12...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153092/is-intrachromosomal-amplification-of-chromosome-21-iamp21-always-intrachromosomal
#9
Karen D Tsuchiya, Billy Davis, Rebecca A Gardner
Recurrent chromosomal abnormalities in childhood B-cell acute lymphoblastic leukemia (B-ALL) provide prognostic information that is useful in determining treatment stratification. iAMP21 is a more recently recognized cytogenetic entity of B-ALL that was originally described as multiple copies of the RUNX1 gene on a structurally abnormal chromosome 21. Subsequent studies elucidated a common region of highest-level amplification that includes RUNX1. Fluorescence in situ hybridization (FISH) is the most common method used to identify iAMP21, which is defined as the presence of five or more total copies of RUNX1, with three or more extra RUNX1 signals on a single abnormal chromosome 21...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153091/detection-of-complex-genomic-signatures-associated-with-risk-in-plasma-cell-disorders
#10
Nadine K Berry, Amanda Dixon-McIver, Rodney J Scott, Philip Rowlings, Anoop K Enjeti
Plasma cell disorders (PCD) range from benign to highly malignant disease. The ability to detect risk-stratifying aberrations based on cytogenetic and molecular genetic assays plays an increasing role in therapeutic decision making. In this study, 58 patients were chosen for screening by comparative genomic hybridisation microarray (aCGH) to identify the new high-risk prognostic markers of chromothripsis and chromoanasynthesis. All patients had an unequivocal clinical diagnosis of a plasma cell disorder (plasma cell myeloma (PCM)(n = 51) or monoclonal gammopathy of undetermined significance (MGUS)(n = 7)) and an abnormal FISH result...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29151902/coexistence-of-p210-bcr-abl-and-cbf%C3%AE-myh11-fusion-genes-in-myeloid-leukemia-a-report-of-4-cases
#11
Yuan-Yuan Wang, Wen-Jing Ding, Feng Jiang, Zi-Xing Chen, Jian-Nong Cen, Xiao-Fei Qi, Jian-Ying Liang, Dan-Dan Liu, Jin-Lan Pan, Su-Ning Chen
Numerous acquired molecular and cytogenetic abnormalities are strongly associated with hematological malignancies. The breakpoint cluster region-ABL proto-oncogene 1 (BCR-ABL) rearrangement leads to a p210 chimeric protein in typical chronic myeloid leukemia (CML), whereas 17-25% of patients with acute lymphocytic leukemia and 0.9-3% patients with de novo acute myeloid leukemia (AML) carry a p190(BCR-ABL) fusion protein. Cases of patients with AML/CML carrying two specific primary molecular changes, BCR-ABL and core binding factor-β-myosin heavy chain 11 (CBFβ-MYH11) fusion genes have been rarely reported...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29151814/de-novo-acute-lymphoblastic-leukemia-like-disease-of-high-grade-b-cell-lymphoma-with-myc-and-bcl2-and-or-bcl6-rearrangements-a-case-report-and-literature-review
#12
Akiko Uchida, Yasushi Isobe, Yu Uemura, Yuji Nishio, Hirotaka Sakai, Masayuki Kato, Kaori Otsubo, Masahiro Hoshikawa, Masayuki Takagi, Ikuo Miura
Background: B-cell lymphomas harboring the 8q24/MYC plus 18q21/BCL2 translocations are now referred to as high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (HGBL-MBR). Although HGBL-MBR is frequently found in cases with diffuse large B-cell lymphoma or Burkitt lymphoma-like B-cell lymphoma, acute lymphoblastic leukemia (ALL)-like disease of HGBL-MBR (AL-HGBL-MBR) has been reported incidentally. Case presentation: A 69-year-old Japanese woman developed remittent fever and increasing systemic bone pain...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/29150050/cytogenetic-changes-in-the-bhopal-population-exposed-to-methyl-isocyanate-mic-in-1984-then-and-30-years-later
#13
Bani Bandana Ganguly, Shouvik Mandal
Following the 1984 Bhopal methyl isocyanate (MIC) gas disaster, genetic alterations were sporadically reported on small cohorts. However, the outcome of the multi-center cytogenetic screening conducted at that time remains unknown and no follow-up studies on the long-term effects of MIC exposure have been published. The present work examines genetic changes in the exposed population,with the aim of identifying any long-term effects of MIC. G-Banded metaphases were studied in lymphocytes of 130 individuals. Chromosomal aberrations (CA) were broadly grouped as abnormal cells (Abc), aberrations (Abn), and aberration/abnormal cell (Abn/Abc)...
December 2017: Mutation Research
https://www.readbyqxmd.com/read/29150047/cytogenetic-damage-in-peripheral-blood-lymphocytes-of-children-exposed-to-pesticides-in-agricultural-areas-of-the-department-of-cordoba-colombia
#14
Javier Alonso Ruiz-Guzmán, Pamela Gómez-Corrales, Ángel Cruz-Esquivel, José Luis Marrugo-Negrete
Pesticides offer benefits, like optimization of agricultural production and disease control; however, these toxic substances can contaminate the environment and pose risks to human health. The aim of this study was to assess pesticide exposure and frequency of cytogenetic damage in infant populations in agricultural areas of the department of Córdoba, Colombia. Urine and peripheral blood samples were taken from children living in the villages of La Ceibita (municipality of Cereté), Cabuya (municipality of San Carlos), Aguas Negras (municipality of Montería), Pelayito (municipality of San Pelayo), and the city of Monteria (control group)...
December 2017: Mutation Research
https://www.readbyqxmd.com/read/29148893/reduced-intensity-delayed-intensification-in-standard-risk-pediatric-acute-lymphoblastic-leukemia-defined-by-undetectable-minimal-residual-disease-results-of-an-international-randomized-trial-aieop-bfm-all-2000
#15
Martin Schrappe, Kirsten Bleckmann, Martin Zimmermann, Andrea Biondi, Anja Möricke, Franco Locatelli, Gunnar Cario, Carmelo Rizzari, Andishe Attarbaschi, Maria Grazia Valsecchi, Claus R Bartram, Elena Barisone, Felix Niggli, Charlotte Niemeyer, Anna Maria Testi, Georg Mann, Ottavio Ziino, Beat Schäfer, Renate Panzer-Grümayer, Rita Beier, Rosanna Parasole, Gudrun Göhring, Wolf-Dieter Ludwig, Fiorina Casale, Paul-Gerhardt Schlegel, Giuseppe Basso, Valentino Conter
Purpose Delayed intensification (DI) is an integral part of treatment of childhood acute lymphoblastic leukemia (ALL), but it is associated with relevant toxicity. Therefore, standard-risk patients of trial AIEOP-BFM ALL 2000 (Combination Chemotherapy Based on Risk of Relapse in Treating Young Patients With ALL) were investigated with the specific aim to reduce treatment intensity. Patients and Methods Between July 2000 and July 2006, 1,164 patients (1 to 17 years of age) with standard-risk ALL (defined as the absence of high-risk cytogenetics and undetectable minimal residual disease on days 33 and 78) were randomly assigned to either experimental reduced-intensity DI (protocol III; P-III) or standard DI (protocol II; P-II)...
November 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29147592/unusual-presentation-of-a-small-cell-variant-of-anaplastic-large-cell-lymphoma-case-when-a-septic-picture-is-not-sepsis
#16
Zhou Yu, Yifan Pang, Linda Wang, Daniel E Ezekwudo, Foluso Ogunleye, Susanna S Gaikazian, Mark Micale, James Huang, Ann Marie Blenc, Ishmael Jaiyesimi
We report a case of a small-cell variant of anaplastic large-cell lymphoma, with an unusual clinical presentation mimicking sepsis and a fulminant clinic course, in a 48-year-old Caucasian female. In this report, we discuss the diagnostic challenge, histopathologic features, and unique cytogenetic features of this case, in order to raise awareness of this rare presentation and emphasize the importance of meticulous peripheral smear examination and early bone marrow evaluation.
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29147589/%C3%AE-%C3%AE-t-cell-acute-lymphoblastic-leukemia-lymphoma-discussion-of-two-pediatric-cases-and-its-distinction-from-other-mature-%C3%AE-%C3%AE-t-cell-malignancies
#17
Eric X Wei, Vasiliki Leventaki, John K Choi, Susana C Raimondi, Elizabeth M Azzato, Sheila A Shurtleff, Menchu G Ong, Diana M Veillon, James D Cotelingam, Rodney E Shackelford
Gamma delta (γδ) T-cell antigen receptor (TCR) expression and its related T-cell differentiation are not commonly reported in T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Here we report two pediatric T-ALL cases and present their clinical features, histology, immunophenotypes, cytogenetics, and molecular diagnostic findings. The first patient is a two-year-old girl with leukocytosis, circulating lymphoblasts, and a cryptic insertion of a short-arm segment at 10p12 into the long-arm segment of 11q23 resulting in an MLL and AF10 fusion transcript, which may be the first reported in γδ T-ALL...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29145861/hybrid-de-novo-genome-assembly-and-centromere-characterization-of-the-gray-mouse-lemur-microcebus-murinus
#18
Peter A Larsen, R Alan Harris, Yue Liu, Shwetha C Murali, C Ryan Campbell, Adam D Brown, Beth A Sullivan, Jennifer Shelton, Susan J Brown, Muthuswamy Raveendran, Olga Dudchenko, Ido Machol, Neva C Durand, Muhammad S Shamim, Erez Lieberman Aiden, Donna M Muzny, Richard A Gibbs, Anne D Yoder, Jeffrey Rogers, Kim C Worley
BACKGROUND: The de novo assembly of repeat-rich mammalian genomes using only high-throughput short read sequencing data typically results in highly fragmented genome assemblies that limit downstream applications. Here, we present an iterative approach to hybrid de novo genome assembly that incorporates datasets stemming from multiple genomic technologies and methods. We used this approach to improve the gray mouse lemur (Microcebus murinus) genome from early draft status to a near chromosome-scale assembly...
November 16, 2017: BMC Biology
https://www.readbyqxmd.com/read/29144072/relapse-and-cytogenetic-evolution-in-myeloid-neoplasms
#19
Natalie Ertz-Archambault, Katalin Kelemen
Based on the current WHO Classification of Myeloid Neoplasms, cytogenetic findings play a central role in the diagnostic classification of the myeloid malignancies. Cytogenetic abnormalities detected at primary diagnosis may change over time. Karyotype changes can be characterized as cytogenetic evolution, cytogenetic regression or a combination of both. While the exact mechanism of cytogenetic evolution is not completely understood, the process of cytogenetic evolution is not random, but follows different, and often disease-specific patterns during progression and relapse of myeloid neoplasms...
December 2017: Panminerva Medica
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#20
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
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