DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved

DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved

The landscape of chromosomal aberrations in the tumor cells of the patients with B-ALL is diverse and can influence the outcome of the disease. Molecular karyotyping at the onset of the disease using chromosomal microarray (CMA) is advisable to identify additional molecular factors associated with t...

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Bibliographic Details
Main Authors: Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichnikova
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
acute B-lymphoblastic leukemia (B-ALL)
copy number alterations (CNAs)
copy neutral loss of heterozygosity (cnLOH)
molecular karyotype
genes
Online Access:https://www.mdpi.com/1422-0067/24/24/17602
Description
Summary:The landscape of chromosomal aberrations in the tumor cells of the patients with B-ALL is diverse and can influence the outcome of the disease. Molecular karyotyping at the onset of the disease using chromosomal microarray (CMA) is advisable to identify additional molecular factors associated with the prognosis of the disease. Molecular karyotyping data for 36 patients with Ph-negative B-ALL who received therapy according to the ALL-2016 protocol are presented. We analyzed copy number alterations and their prognostic significance for <i>CDKN2A</i>/<i>B</i>, <i>DMRTA</i>, <i>DOCK8</i>, <i>TP53</i>, <i>SMARCA2</i>, <i>PAX5</i>, <i>XPA</i>, <i>FOXE1</i>, <i>HEMGN</i>, <i>USP45</i>, <i>RUNX1</i>, <i>NF1</i>, <i>IGF2BP1</i>, <i>ERG</i>, <i>TMPRSS2</i>, <i>CRLF2</i>, <i>FGFR3</i>, <i>FLNB</i>, <i>IKZF1</i>, <i>RUNX2</i>, <i>ARID1B</i>, <i>CIP2A</i>, <i>PIK3CA</i>, <i>ATM</i>, <i>RB1</i>, <i>BIRC3</i>, <i>MYC</i>, <i>IKZF3</i>, <i>ETV6</i>, <i>ZNF384</i>, <i>PTPRJ</i>, <i>CCL20</i>, <i>PAX3</i>, <i>MTCH2</i>, <i>TCF3</i>, <i>IKZF2</i>, <i>BTG1</i>, <i>BTG2</i>, <i>RAG1</i>, <i>RAG2</i>, <i>ELK3</i>, <i>SH2B3</i>, <i>EP300</i>, <i>MAP2K2</i>, <i>EBI3</i>, <i>MEF2D</i>, <i>MEF2C</i>, <i>CEBPA</i>, and <i>TBLXR1</i> genes, choosing t(4;11) and t(7;14) as reference events. Of the 36 patients, only 5 (13.8%) had a normal molecular karyotype, and 31 (86.2%) were found to have various molecular karyotype abnormalities—104 deletions, 90 duplications or amplifications, 29 cases of cnLOH and 7 biallelic/homozygous deletions. We found that 11q22-23 duplication involving the <i>BIRC3</i>, <i>ATM</i> and <i>MLL</i> genes was the most adverse prognostic event in the study cohort.
ISSN:1661-6596
1422-0067

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