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@article{1832343,
author = {Závacká, Kristýna and Plevová, Karla},
article_location = {Lausanne},
article_number = {November 2021},
doi = {http://dx.doi.org/10.3389/fonc.2021.771664},
keywords = {chromothripsis; chronic lymphocytic leukemia; complex chromosomal rearrangements; copy number alterations; genomic array; paired-end sequencing; oncogene amplification; tumor suppressor inactivation},
language = {eng},
issn = {2234-943X},
journal = {Frontiers in Oncology},
title = {Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability},
url = {https://www.frontiersin.org/articles/10.3389/fonc.2021.771664/full},
volume = {11},
year = {2021}
}
TY - JOUR
ID - 1832343
AU - Závacká, Kristýna - Plevová, Karla
PY - 2021
TI - Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
JF - Frontiers in Oncology
VL - 11
IS - November 2021
SP - 1-9
EP - 1-9
PB - Frontiers Media S.A.
SN - 2234943X
KW - chromothripsis
KW - chronic lymphocytic leukemia
KW - complex chromosomal rearrangements
KW - copy number alterations
KW - genomic array
KW - paired-end sequencing
KW - oncogene amplification
KW - tumor suppressor inactivation
UR - https://www.frontiersin.org/articles/10.3389/fonc.2021.771664/full
N2 - Chromothripsis represents a mechanism of massive chromosome shattering and reassembly leading to the formation of derivative chromosomes with abnormal functions and expression. It has been observed in many cancer types, importantly, including chronic lymphocytic leukemia (CLL). Due to the associated chromosomal rearrangements, it has a significant impact on the pathophysiology of the disease. Recent studies have suggested that chromothripsis may be more common than initially inferred, especially in CLL cases with adverse clinical outcome. Here, we review the main features of chromothripsis, the challenges of its assessment, and the potential benefit of its detection. We summarize recent findings of chromothripsis occurrence across hematological malignancies and address its causes and consequences in the context of CLL clinical features, as well as chromothripsis-related molecular abnormalities described in published CLL studies. Furthermore, we discuss the use of the current knowledge about genome functions associated with chromothripsis in the optimization of treatment strategies in CLL.
ER -
ZÁVACKÁ, Kristýna and Karla PLEVOVÁ. Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability. Online. \textit{Frontiers in Oncology}. Lausanne: Frontiers Media S.A., 2021, vol.~11, November 2021, p.~1-9. ISSN~2234-943X. Available from: https://dx.doi.org/10.3389/fonc.2021.771664. [citováno 2024-04-23]
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