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

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...

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Autores principales:	Kristyna Zavacka, Karla Plevova
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	chromothripsis chronic lymphocytic leukemia complex chromosomal rearrangements copy number alterations genomic array paired-end sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/4374ef7ff7ac4271b02f42a6e28a0dd0
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spelling	oai:doaj.org-article:4374ef7ff7ac4271b02f42a6e28a0dd02021-12-01T06:55:33ZChromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability2234-943X10.3389/fonc.2021.771664https://doaj.org/article/4374ef7ff7ac4271b02f42a6e28a0dd02021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.771664/fullhttps://doaj.org/toc/2234-943XChromothripsis 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.Kristyna ZavackaKristyna ZavackaKarla PlevovaKarla PlevovaKarla PlevovaFrontiers Media S.A.articlechromothripsischronic lymphocytic leukemiacomplex chromosomal rearrangementscopy number alterationsgenomic arraypaired-end sequencingNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	chromothripsis chronic lymphocytic leukemia complex chromosomal rearrangements copy number alterations genomic array paired-end sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	chromothripsis chronic lymphocytic leukemia complex chromosomal rearrangements copy number alterations genomic array paired-end sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Kristyna Zavacka Kristyna Zavacka Karla Plevova Karla Plevova Karla Plevova Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
description	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.
format	article
author	Kristyna Zavacka Kristyna Zavacka Karla Plevova Karla Plevova Karla Plevova
author_facet	Kristyna Zavacka Kristyna Zavacka Karla Plevova Karla Plevova Karla Plevova
author_sort	Kristyna Zavacka
title	Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
title_short	Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
title_full	Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
title_fullStr	Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
title_full_unstemmed	Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
title_sort	chromothripsis in chronic lymphocytic leukemia: a driving force of genome instability
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/4374ef7ff7ac4271b02f42a6e28a0dd0
work_keys_str_mv	AT kristynazavacka chromothripsisinchroniclymphocyticleukemiaadrivingforceofgenomeinstability AT kristynazavacka chromothripsisinchroniclymphocyticleukemiaadrivingforceofgenomeinstability AT karlaplevova chromothripsisinchroniclymphocyticleukemiaadrivingforceofgenomeinstability AT karlaplevova chromothripsisinchroniclymphocyticleukemiaadrivingforceofgenomeinstability AT karlaplevova chromothripsisinchroniclymphocyticleukemiaadrivingforceofgenomeinstability
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Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability

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