Results 121 to 130 of about 946 (139)

Chromoanagenesis Is Frequently Associated With Highly Complex Karyotypes, Extensive Clonal Heterogeneity, and Treatment Refractoriness in Acute Myeloid Leukemia

American journal of hematology/oncology
Chromoanagenesis (CAG) encompasses a spectrum of catastrophic genomic events, including chromothripsis, chromoanasynthesis, and chromoplexy. We studied CAG in 410 patients with a diagnosis of acute myeloid leukemia (AML), 292 newly diagnosed (ND), and ...
Qing Wei, Shi-Min Hu, S. Loghavi, Gokce A. Toruner, F. Ravandi-Kashani, Zhenya Tang, Shaoying Li, Jie Xu, Naval G. Daver, L. Medeiros, Gui-Lin Tang   +10 more
semanticscholar   +1 more source

Ergodic Manipulation of Genome Chaos: Innovative Strategies against Malignant Progression.

Current Cancer Drug Targets
Genome instability is a key driver of malignant progression in cancer and is char-acterized by chromoanagenesis, including spontaneous events, such as chromothripsis, chromoanasynthesis, and chromoplexy. These genome catastrophes create the heterogeneity
Sergey Shityakov, V. Kravtsov
semanticscholar   +1 more source

Unraveling complex karyotype clonal architecture: co-existing double TP53 mutations alongside DNMT3A, TET2, and NF1 mutations - a case study.

Cancer Genetics
Complex chromosomal changes in Acute Myeloid Leukemia (AML) are highly heterogeneous, with disease progression shaped by both the number and nature of abnormalities.
S. Abunaser, Anurita Pais, Manu Venkatesan, Uzma Zaidi, Cigdem Ozturk   +4 more
semanticscholar   +1 more source

Genotype–Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing

American Journal of Medical Genetics. Part A
Molecular characterization of balanced complex chromosomal rearrangements (CCR) aids in understanding the pathophysiological mechanism and corresponding genotype–phenotype correlations. The present case describes a male child with intellectual disability,
F. Sheth, J. Shah, M. Muranjan, Thomas Liehr, Niklas Padutsch, Srikant Mane, S. Ng, Peining Li, Manisha Desai, Heny Kansara, J. Sheth, Harsh Sheth   +11 more
semanticscholar   +1 more source

Abstract 1989: Systematic discovery and classification of structural variant drivers across >8,000 TCGA whole genomes.

Cancer Research
Structural variants (SVs)—large-scale genomic deletions, duplications, inversions, and translocations—can promote tumorigenesis by activating proto-oncogenes, disrupting tumor suppressors, generating oncogenic fusions, rewiring gene regulation, and ...
Antonia Kowalewski, Xavi Loinaz, H. Park, V. N. Swamy, David I. Heiman, Samantha Van Seters, Saveliy Belkin, Sam Wiseman, Chunyang Bao, A. Cherniack, L. A. Corchete Sánchez, B. Danysh, Zachary Everton, Ryul Kim, Gang-Hee Lee, Won Chul Lee, David Lehotzky, Ron Solan, Chip Stewart, Tomono Haruna, Gengchao Wang, R. Beroukhim, Y. Ju, Esther Rheinbay, G. Getz   +24 more
semanticscholar   +1 more source

Fluorescence in situ hybridization‐negative intra‐articular myxoid liposarcoma with complex rearrangements involving EWSR1::DDIT3 detected using nanopore sequencing

Pathology international (Print)
Myxoid liposarcoma (MLPS) is a rare sarcoma, typically arising in deep soft tissues during the fourth to fifth decades of life. Histologically, MLPS is composed of uniform oval cells within a background of myxoid stroma and chicken‐wire capillaries ...
Naohiro Makise, Jason Lin, Hajime Kageyama, Naoki Takeda, Mariko Oikawa, Takahiro Sugiyama, Hidetada Kawana, A. Araki, Hideyuki Kinoshita, H. Kamoda, Y. Hagiwara, Akihiko Yoshida, T. Yonemoto, Masahito Kawazu, M. Itami   +14 more
semanticscholar   +1 more source

Rôles des mutations somatiques dans STAG2, TP53 et CDKN2A et de la chromoplexie dans l'oncogenèse du sarcome d'Ewing

Le sarcome d'Ewing est le second cancer pédiatrique des os et tissus mous le plus fréquent. Il est caractérisé par la présence d'une translocation chromosomique fusionnant un gène de la famille FET à un facteur de transcription de la famille des ETS. Dans 85% des cas, la t(11;22)(q24;q12) fusionnant les gènes EWSR1 et FLI1 est observée, et dans 10% des
openaire   +1 more source

Abstract PR005: A toolbox for the use of cfDNA in pediatric cancer patients

Cancer Research
Testing of circulating tumor derived cell-free DNA (ctDNA) in liquid biopsies has many promising applications in adult cancers. Pediatric cancers are characterized by heterogeneous genetic aberrations that involve chromosomal copy number alterations ...
G. Tytgat, L. V. van Zogchel, N. Lak, Nina U. Gelineau, Julia Sprokkerieft, Alexandra Letunovska, M. M. van den Heuvel, H. Merks, L. Looijenga, M. Bos, Z. van Gestel-Fadaie, C. Ellen van der Schoot   +11 more
semanticscholar   +1 more source

Reconstructing Catastrophic Chromothripsis Events Using Multiomic Data Reveals Their Functional Impact in Multiple Myeloma

Blood
Introduction: Complex structural variants (SVs) are important markers of high-risk disease in multiple myeloma, and include chromoplexy, templated insertions, and chromothripsis.Despite being able to identify these events in whole genome sequencing ...
Enze Liu, Nathan Becker, Parvathi Sudha, A. Mikulasova, R. Abonour, Brian A. Walker   +5 more
semanticscholar   +1 more source

How Chaotic Is Genome Chaos?

Cancers, 2021
James A Shapiro
exaly