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Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations

Chronic lymphocytic leukemia (CLL) with cytogenetics findings, such as complex karyotype and deletions of TP53 or ATM, is associated with adverse clinical outcomes. Additional chromosomal abnormalities further stratify patients into groups with diverse prognoses. Gain of 8q24 is one of the abnormali...

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Autores principales: Ondroušková, Eva, Bohúnová, Michaela, Závacká, Kristýna, Čech, Patrik, Šmuhařová, Petra, Boudný, Miroslav, Oršulová, Martina, Panovská, Anna, Radová, Lenka, Doubek, Michael, Plevová, Karla, Jarošová, Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263084/
https://www.ncbi.nlm.nih.gov/pubmed/35814434
http://dx.doi.org/10.3389/fonc.2022.859618
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author Ondroušková, Eva
Bohúnová, Michaela
Závacká, Kristýna
Čech, Patrik
Šmuhařová, Petra
Boudný, Miroslav
Oršulová, Martina
Panovská, Anna
Radová, Lenka
Doubek, Michael
Plevová, Karla
Jarošová, Marie
author_facet Ondroušková, Eva
Bohúnová, Michaela
Závacká, Kristýna
Čech, Patrik
Šmuhařová, Petra
Boudný, Miroslav
Oršulová, Martina
Panovská, Anna
Radová, Lenka
Doubek, Michael
Plevová, Karla
Jarošová, Marie
author_sort Ondroušková, Eva
collection PubMed
description Chronic lymphocytic leukemia (CLL) with cytogenetics findings, such as complex karyotype and deletions of TP53 or ATM, is associated with adverse clinical outcomes. Additional chromosomal abnormalities further stratify patients into groups with diverse prognoses. Gain of 8q24 is one of the abnormalities considered as prognostically unfavorable. In our study, we performed a FISH analysis in an initial cohort of 303 consecutive CLL patients and determined the frequency of +8q to be 6.3 %. Our analysis confirmed the association with TP53/ATM aberrations and CK, as the frequency of +8q reached 26.7 % in an extended delTP53/ATM+CK cohort. M-FISH analysis enabled the identification of partner chromosomes where the segment of the duplicated 8q arm was localized. More detailed mapping of the gained 8q region using the M-BAND method determined the smallest amplified region 8q23-8qter. We observed significantly shorter overall survival (OS; 9.0 years in +8q-positive vs. 10.6 years in +8q-negative; p=0.02) and detected slightly higher MYC mRNA/protein levels in +8q-positive vs. +8q-negative patients.
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spelling pubmed-92630842022-07-09 Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations Ondroušková, Eva Bohúnová, Michaela Závacká, Kristýna Čech, Patrik Šmuhařová, Petra Boudný, Miroslav Oršulová, Martina Panovská, Anna Radová, Lenka Doubek, Michael Plevová, Karla Jarošová, Marie Front Oncol Oncology Chronic lymphocytic leukemia (CLL) with cytogenetics findings, such as complex karyotype and deletions of TP53 or ATM, is associated with adverse clinical outcomes. Additional chromosomal abnormalities further stratify patients into groups with diverse prognoses. Gain of 8q24 is one of the abnormalities considered as prognostically unfavorable. In our study, we performed a FISH analysis in an initial cohort of 303 consecutive CLL patients and determined the frequency of +8q to be 6.3 %. Our analysis confirmed the association with TP53/ATM aberrations and CK, as the frequency of +8q reached 26.7 % in an extended delTP53/ATM+CK cohort. M-FISH analysis enabled the identification of partner chromosomes where the segment of the duplicated 8q arm was localized. More detailed mapping of the gained 8q region using the M-BAND method determined the smallest amplified region 8q23-8qter. We observed significantly shorter overall survival (OS; 9.0 years in +8q-positive vs. 10.6 years in +8q-negative; p=0.02) and detected slightly higher MYC mRNA/protein levels in +8q-positive vs. +8q-negative patients. Frontiers Media S.A. 2022-06-24 /pmc/articles/PMC9263084/ /pubmed/35814434 http://dx.doi.org/10.3389/fonc.2022.859618 Text en Copyright © 2022 Ondroušková, Bohúnová, Závacká, Čech, Šmuhařová, Boudný, Oršulová, Panovská, Radová, Doubek, Plevová and Jarošová https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Ondroušková, Eva
Bohúnová, Michaela
Závacká, Kristýna
Čech, Patrik
Šmuhařová, Petra
Boudný, Miroslav
Oršulová, Martina
Panovská, Anna
Radová, Lenka
Doubek, Michael
Plevová, Karla
Jarošová, Marie
Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
title Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
title_full Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
title_fullStr Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
title_full_unstemmed Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
title_short Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
title_sort duplication of 8q24 in chronic lymphocytic leukemia: cytogenetic and molecular biologic analysis of myc aberrations
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263084/
https://www.ncbi.nlm.nih.gov/pubmed/35814434
http://dx.doi.org/10.3389/fonc.2022.859618
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