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Chromothripsis

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https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#1
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27888607/catastrophic-cellular-events-leading-to-complex-chromosomal-rearrangements-in-the-germline
#2
REVIEW
Maki Fukami, Hitohito Shima, Erina Suzuki, Tsutomu Ogata, Keiko Matsubara, Tsutomu Kamimaki
Although complex chromosomal rearrangements were thought to reflect the accumulation of DNA damage over time, recent studies have shown that such rearrangements frequently arise from "all-at-once" catastrophic cellular events. These events, designated chromothripsis, chromoanasynthesis, and chromoanagenesis, were first documented in the cancer genome and subsequently observed in the germline. These events likely result from micronucleus-mediated chromosomal shattering and subsequent random reassembly of DNA fragments, although several other mechanisms have also been proposed...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27880765/mechanisms-for-complex-chromosomal-insertions
#3
Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith, Ankita Patel, Rodger H Song, Weimin Bi, Sau Wai Cheung, Claudia M B Carvalho, Paweł Stankiewicz, James R Lupski
Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains. Little is known about the molecular mechanisms of their formation. We identified 16 individuals with complex insertions among 56,000 individuals tested at Baylor Genetics using clinical array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH)...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27825145/constitutional-chromoanagenesis-of-distal-13q-in-a-young-adult-with-recurrent-strokes
#4
Rachel D Burnside, April Harris, Darrow Speyer, W Scott Burgin, David Z Rose, Amarilis Sanchez-Valle
Constitutional chromoanagenesis events, which include chromoanasynthesis and chromothripsis and result in highly complex rearrangements, have been reported for only a few individuals. While rare, these phenomena have likely been underestimated in a constitutional setting as technologies that can accurately detect such complexity are relatively new to the mature field of clinical cytogenetics. G-banding is not likely to accurately identify chromoanasynthesis or chromothripsis, since the banding patterns of chromosomes are likely to be misidentified or oversimplified due to a much lower resolution...
November 9, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27781423/malignant-glioma-with-primitive-neuroectodermal-tumor-like-component-mg-pnet-novel-microarray-findings-in-a-pediatric-patient
#5
Jinglan Liu, Matthew P Keisling, Ayman Samkari, Gregory Halligan, Judy M Pascasio, Christos D Katsetos
Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male. Histologically, the PNET-like component showed morphological features akin to anaplastic medulloblastoma highlighted by widespread immunoreactivity for βIII-tubulin (TUBB3) and nonphosphorylated neurofilament protein, and to a lesser degree, Neu-N, synaptophysin, and CD99, whereas the gliomatous component was demarcated by glial fibrillary acidic protein (GFAP) labeling...
October 26, 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27770003/genomic-analysis-of-pancreatic-cancers-reveals-punctuated-evolution
#6
(no author information available yet)
Most pancreatic tumors display complex rearrangements linked to mitotic errors and chromothripsis.
October 21, 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27741277/chromothripsis-is-a-recurrent-genomic-abnormality-in-high-risk-myelodysplastic-syndromes
#7
María Abáigar, Cristina Robledo, Rocío Benito, Fernando Ramos, María Díez-Campelo, Lourdes Hermosín, Javier Sánchez-Del-Real, Jose M Alonso, Rebeca Cuello, Marta Megido, Juan N Rodríguez, Guillermo Martín-Núñez, Carlos Aguilar, Manuel Vargas, Ana A Martín, Juan L García, Alexander Kohlmann, M Consuelo Del Cañizo, Jesús M Hernández-Rivas
To explore novel genetic abnormalities occurring in myelodysplastic syndromes (MDS) through an integrative study combining array-based comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS/myeloproliferative neoplasms (MPN) patients. 301 patients diagnosed with MDS (n = 240) or MDS/MPN (n = 61) were studied at the time of diagnosis. A genome-wide analysis of DNA copy number abnormalities was performed. In addition, a mutational analysis of DNMT3A, TET2, RUNX1, TP53 and BCOR genes was performed by NGS in selected cases...
2016: PloS One
https://www.readbyqxmd.com/read/27636097/cancer-cells-that-survive-checkpoint-adaptation-contain-micronuclei-that-harbor-damaged-dna
#8
Cody W Lewis, Roy M Golsteyn
We have examined the relationship between checkpoint adaptation (mitosis with damaged DNA) and micronuclei. Micronuclei in cancer cells are linked to genomic change, and may induce chromothripsis (chromosome shattering). We measured the cytotoxicity of the cancer drug cisplatin in M059K (glioma fibroblasts, IC50 15 μM). Nearly 100% of M059K cells were positive for histone γH2AX staining after 48 h treatment with a cytotoxic concentration of cisplatin. The proportion of micronucleated cells, as confirmed by microscopy using DAPI and lamin A/C staining, increased from 24% to 48%, and the total micronuclei in surviving cells accumulated over time...
September 16, 2016: Cell Cycle
https://www.readbyqxmd.com/read/27560999/tumor-touch-imprints-as-source-for-whole-genome-analysis-of-neuroblastoma-tumors
#9
Clemens Brunner, Bettina Brunner-Herglotz, Andrea Ziegler, Christian Frech, Gabriele Amann, Ruth Ladenstein, Inge M Ambros, Peter F Ambros
INTRODUCTION: Tumor touch imprints (TTIs) are routinely used for the molecular diagnosis of neuroblastomas by interphase fluorescence in-situ hybridization (I-FISH). However, in order to facilitate a comprehensive, up-to-date molecular diagnosis of neuroblastomas and to identify new markers to refine risk and therapy stratification methods, whole genome approaches are needed. We examined the applicability of an ultra-high density SNP array platform that identifies copy number changes of varying sizes down to a few exons for the detection of genomic changes in tumor DNA extracted from TTIs...
2016: PloS One
https://www.readbyqxmd.com/read/27542123/impaired-nuclear-functions-in-micronuclei-results-in-genome-instability-and-chromothripsis
#10
Mariona Terradas, Marta Martín, Anna Genescà
Micronuclei (MN) have generally been considered a consequence of DNA damage and, as such, have been used as markers of exposure to genotoxic agents. However, advances in DNA sequencing methods and the development of high-resolution microscopy with which to analyse chromosome dynamics in live cells have been fundamental in building a more refined view of the existing links between DNA damage and micronuclei. Here, we review recent progress indicating that defects of micronuclei affect basic nuclear functions, such as DNA repair and replication, generating massive damage in the chromatin of the MN...
November 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/27526110/systemic-chromosome-instability-in-shugoshin-1-mice-resulted-in-compromised-glutathione-pathway-activation-of-wnt-signaling-and-defects-in-immune-system-in-the-lung
#11
H Y Yamada, G Kumar, Y Zhang, E Rubin, S Lightfoot, W Dai, C V Rao
Mitotic error-mediated chromosome instability (CIN) can lead to aneuploidy, chromothripsis, DNA damage and/or whole chromosome gain/loss. CIN may prompt rapid accumulation of mutations and genomic alterations. Thus, CIN can promote carcinogenesis. This CIN process results from a mutation in certain genes or environmental challenge such as smoking, and is highly prevalent in various cancers, including lung cancer. A better understanding of the effects of CIN on carcinogenesis will lead to novel methods for cancer prevention and treatment...
August 15, 2016: Oncogenesis
https://www.readbyqxmd.com/read/27447440/concurrence-of-chromosome-6-chromothripsis-and-glioblastoma-metastasis
#12
Robert C Rennert, Reid R Hoshide, Jason W Signorelli, Deirdre Amaro, Jayson A Sack, Cameron W Brennan, Clark C Chen
The authors report an unusual case of a widely metastatic glioblastoma. DNA copy number microarray profile of the resected specimen revealed complex rearrangements found throughout chromosome 6, a phenomenon known as chromothripsis. Such chromothripsis pattern was not observed in 50 nonmetastatic glioblastoma specimens analyzed. Analysis of the 1000+ gliomas profiled by The Cancer Genome Atlas (TCGA) data set revealed one case of chromosome 6 chromothripsis resembling the case described here. This TCGA patient died within 6 months of undergoing tumor resection...
July 22, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27441494/genetic-progression-of-barrett-s-oesophagus-to-oesophageal-adenocarcinoma
#13
Eleanor M Gregson, Jan Bornschein, Rebecca C Fitzgerald
Barrett's oesophagus (BE) is the premalignant condition associated with the development of oesophageal adenocarcinoma (OAC). Diagnostically, p53 immunohistochemistry remains the only biomarker recommended clinically to aid histopathological diagnosis. The emerging mutational profile of BE is one of highly heterogeneous lesions at the genomic level with many mutations already occurring in non-dysplastic tissue. As well as point mutations, larger scale copy-number changes appear to have a key role in the progression to OAC and clinically applicable assays for the reliable detection of aneuploidy will be important to incorporate into future clinical management of patients...
August 9, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27426636/chromothripsis-in-two-patients-with-renal-cell-carcinoma-a-case-series
#14
Jonathan C Gullett, Iya Y Znoyko, Daynna J Wolff, Cynthia A Schandl
No abstract text is available yet for this article.
June 23, 2016: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/27342254/using-large-scale-genome-variation-cohorts-to-decipher-the-molecular-mechanism-of-cancer
#15
Nina Habermann, Balca R Mardin, Sergei Yakneen, Jan O Korbel
Characterizing genomic structural variations (SVs) in the human genome remains challenging, and there is a growing interest to understand somatic SVs occurring in cancer, a disease of the genome. A havoc-causing SV process known as chromothripsis scars the genome when localized chromosome shattering and repair occur in a one-off catastrophe. Recent efforts led to the development of a set of conceptual criteria for the inference of chromothripsis events in cancer genomes and to the development of experimental model systems for studying this striking DNA alteration process in vitro...
July 2016: Comptes Rendus Biologies
https://www.readbyqxmd.com/read/27282254/genomic-disruption-of-the-histone-methyltransferase-setd2-in-chronic-lymphocytic-leukaemia
#16
H Parker, M J J Rose-Zerilli, M Larrayoz, R Clifford, J Edelmann, S Blakemore, J Gibson, J Wang, V Ljungström, T K Wojdacz, T Chaplin, A Roghanian, Z Davis, A Parker, E Tausch, S Ntoufa, S Ramos, P Robbe, R Alsolami, A J Steele, G Packham, A E Rodríguez-Vicente, L Brown, F McNicholl, F Forconi, A Pettitt, P Hillmen, M Dyer, M S Cragg, C Chelala, C C Oakes, R Rosenquist, K Stamatopoulos, S Stilgenbauer, S Knight, A Schuh, D G Oscier, J C Strefford
Histone methyltransferases (HMTs) are important epigenetic regulators of gene transcription and are disrupted at the genomic level in a spectrum of human tumours including haematological malignancies. Using high-resolution single nucleotide polymorphism (SNP) arrays, we identified recurrent deletions of the SETD2 locus in 3% (8/261) of chronic lymphocytic leukaemia (CLL) patients. Further validation in two independent cohorts showed that SETD2 deletions were associated with loss of TP53, genomic complexity and chromothripsis...
November 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27255164/genomewide-copy-number-analysis-of-m%C3%A3-llerian-adenosarcoma-identified-chromosomal-instability-in-the-aggressive-subgroup
#17
Jen-Chieh Lee, Tzu-Pin Lu, Chun A Changou, Cher-Wei Liang, Hsien-Neng Huang, Alexandra Lauria, Hsuan-Ying Huang, Chin-Yao Lin, Ying-Cheng Chiang, Ben Davidson, Ming-Chieh Lin, Kuan-Ting Kuo
Müllerian adenosarcomas are malignant gynecologic neoplasms. Advanced staging and sarcomatous overgrowth predict poor prognosis. Because the genomic landscape remains poorly understood, we conducted this study to characterize the genomewide copy number variations in adenosarcomas. Sixteen tumors, including eight with and eight without sarcomatous overgrowth, were subjected to a molecular inversion probe array analysis. Copy number variations, particularly losses, were significantly higher in cases with sarcomatous overgrowth...
September 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27216161/heterogeneity-of-a-constitutional-complex-chromosomal-rearrangement-in-2q
#18
Javier Del Rey, Mónica Santos, Antonio González-Meneses, Montserrat Milà, Carme Fuster
Complex chromosome rearrangements (CCRs) are unusual structural chromosome alterations found in humans, and to date only a few have been characterized molecularly. New mechanisms, such as chromothripsis, have been proposed to explain the presence of the CCRs in cancer cells and in patients with congenital disorders and/or mental retardation. The aim of the present study was the molecular characterization of a constitutional CCR in a girl with multiple congenital disorders and intellectual disability in order to determine the genotype-phenotype relation and to clarify whether the CCR could have been caused by chromosomal catastrophic events...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27208973/chromothripsis-and-epigenomics-complete-causality-criteria-for-cannabis-and-addiction-connected-carcinogenicity-congenital-toxicity-and-heritable-genotoxicity
#19
REVIEW
Albert Stuart Reece, Gary Kenneth Hulse
The recent demonstration that massive scale chromosomal shattering or pulverization can occur abruptly due to errors induced by interference with the microtubule machinery of the mitotic spindle followed by haphazard chromosomal annealing, together with sophisticated insights from epigenetics, provide profound mechanistic insights into some of the most perplexing classical observations of addiction medicine, including cancerogenesis, the younger and aggressive onset of addiction-related carcinogenesis, the heritability of addictive neurocircuitry and cancers, and foetal malformations...
July 2016: Mutation Research
https://www.readbyqxmd.com/read/27185889/ctlpscanner-a-web-server-for-chromothripsis-like-pattern-detection
#20
Jian Yang, Jixiang Liu, Liang Ouyang, Yi Chen, Bo Liu, Haoyang Cai
Chromothripsis is a recently observed phenomenon in cancer cells in which one or several chromosomes shatter into pieces with subsequent inaccurate reassembly and clonal propagation. This type of event generates a potentially vast number of mutations within a relatively short-time period, and has been considered as a new paradigm in cancer development. Despite recent advances, much work is still required to better understand the molecular mechanisms of this phenomenon, and thus an easy-to-use tool is in urgent need for automatically detecting and annotating chromothripsis...
July 8, 2016: Nucleic Acids Research
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