Detailed Information on Publication Record
2021
Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
ZÁVACKÁ, Kristýna and Karla PLEVOVÁBasic information
Original name
Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
Authors
ZÁVACKÁ, Kristýna (203 Czech Republic, belonging to the institution) and Karla PLEVOVÁ (203 Czech Republic, guarantor, belonging to the institution)
Edition
Frontiers in Oncology, Lausanne, Frontiers Media S.A. 2021, 2234-943X
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
30204 Oncology
Country of publisher
Switzerland
Confidentiality degree
není předmětem státního či obchodního tajemství
References:
Impact factor
Impact factor: 5.738
RIV identification code
RIV/00216224:14110/21:00120226
Organization unit
Faculty of Medicine
UT WoS
000729014900001
Keywords in English
chromothripsis; chronic lymphocytic leukemia; complex chromosomal rearrangements; copy number alterations; genomic array; paired-end sequencing; oncogene amplification; tumor suppressor inactivation
Tags
International impact, Reviewed
Změněno: 8/2/2022 14:03, Mgr. Tereza Miškechová
Abstract
V originále
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.
Links
EF16_026/0008448, research and development project |
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MUNI/A/1595/2020, interní kód MU |
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MUNI/IGA/1640/2020, interní kód MU |
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NU21-08-00237, research and development project |
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