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 

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

JOURNAL=Frontiers in Oncology

VOLUME=12

YEAR=2022

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.859618

DOI=10.3389/fonc.2022.859618

ISSN=2234-943X

ABSTRACT=<p>Chronic lymphocytic leukemia (CLL) with cytogenetics findings, such as complex karyotype and deletions of <italic>TP53</italic> or <italic>ATM</italic>, 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 <italic>TP53/ATM</italic> aberrations and CK, as the frequency of +8q reached 26.7 % in an extended del<italic>TP53/ATM</italic>+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.</p>