J 2021

Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability

ZÁVACKÁ, Kristýna and Karla PLEVOVÁ

Basic 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
Name: Analýza českých genomů pro teranostiku
MUNI/A/1595/2020, interní kód MU
Name: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit VIII (Acronym: VýDiTeHeMa VIII)
Investor: Masaryk University
MUNI/IGA/1640/2020, interní kód MU
Name: Exploring clonal evolution and causes of modern targeted therapy failure in CLL
Investor: Masaryk University
NU21-08-00237, research and development project
Name: Pokročilé sekvenační metody pro analýzu strukturních přestaveb nádorového genomu
Investor: Ministry of Health of the CR, Advanced sequencing methods for deciphering structural variants in cancer genome, Subprogram 1 - standard