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Frequency and Correlation of Common Genes Copy Number Alterations in Childhood Acute Lymphoblastic Leukemia with Prognosis

Hosein Pour Feizi, Abbasali ; Zeinali, Sirous ; Toporski, Jacek LU ; Sheervalilou, Roghayeh and Mehranfar, Sahar (2020) In Asian Pacific journal of cancer prevention : APJCP 21(12). p.3493-3500
Abstract

OBJECTIVE: It was shown by genomic profiling that despite no detectable chromosomal abnormalities a proportion of children with pre-B acute lymphoblastic leukemia harbors copy number alterations (CNA) of genes playing role in B-cell development and function. The aim of the study was to determine the frequency of CNA in pediatric acute lymphoblastic leukemia and correlate these findings with clinical outcome. METHODS: DNA extracted from peripheral blood or bone marrow at diagnosis/relapse of fifty newly diagnosed children with precursor B-cell acute lymphoblastic leukemia was analyzed for CNA with multiplex ligation-dependent probe amplification. RESULTS: The analysis revealed 76 CNA in 24 patients most frequently found in PAR1 (17%),... (More)

OBJECTIVE: It was shown by genomic profiling that despite no detectable chromosomal abnormalities a proportion of children with pre-B acute lymphoblastic leukemia harbors copy number alterations (CNA) of genes playing role in B-cell development and function. The aim of the study was to determine the frequency of CNA in pediatric acute lymphoblastic leukemia and correlate these findings with clinical outcome. METHODS: DNA extracted from peripheral blood or bone marrow at diagnosis/relapse of fifty newly diagnosed children with precursor B-cell acute lymphoblastic leukemia was analyzed for CNA with multiplex ligation-dependent probe amplification. RESULTS: The analysis revealed 76 CNA in 24 patients most frequently found in PAR1 (17%), CDKN2A/B (15.7%) and PAX5 (14.4%) genes. There were significant CNA co-occurrences between PAX5, CDKN2A/B, BTG1, ETV6, PAR1 or XP22 genes, (p <0.020) and the high-risk group. There was a significant correlation between EBF1, RB1, and IKZF1 alterations and bone marrow relapse. Patients with CNA in screened genes are more likely to succumb to their disease except for those with PAR1 or XP22 genes (p <0.050). CONCLUSION: The multiplex ligation-dependent probe amplification could be considered as an independent diagnostic tool allowing prompt identification of patients at high risk of treatment failure and, subsequently, a more adequate treatment approach.

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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CDKN2A/B, Childhood acute lymphoblastic leukemia (ALL), copy number alterations (CNA), multiplex ligation-dependent probe amplification (MLPA), PAX5
in
Asian Pacific journal of cancer prevention : APJCP
volume
21
issue
12
pages
8 pages
publisher
Asian Pacific Association for Cancer Education
external identifiers
  • pmid:33369444
  • scopus:85099114741
ISSN
1513-7368
DOI
10.31557/APJCP.2020.21.12.3493
language
English
LU publication?
yes
id
b6ca3c4a-246e-420a-93d4-16ce3611eecf
date added to LUP
2021-01-21 13:49:28
date last changed
2024-04-18 02:37:52
@article{b6ca3c4a-246e-420a-93d4-16ce3611eecf,
  abstract     = {{<p>OBJECTIVE: It was shown by genomic profiling that despite no detectable chromosomal abnormalities a proportion of children with pre-B acute lymphoblastic leukemia harbors copy number alterations (CNA) of genes playing role in B-cell development and function. The aim of the study was to determine the frequency of CNA in pediatric acute lymphoblastic leukemia and correlate these findings with clinical outcome. METHODS: DNA extracted from peripheral blood or bone marrow at diagnosis/relapse of fifty newly diagnosed children with precursor B-cell acute lymphoblastic leukemia was analyzed for CNA with multiplex ligation-dependent probe amplification. RESULTS: The analysis revealed 76 CNA in 24 patients most frequently found in PAR1 (17%), CDKN2A/B (15.7%) and PAX5 (14.4%) genes. There were significant CNA co-occurrences between PAX5, CDKN2A/B, BTG1, ETV6, PAR1 or XP22 genes, (p &lt;0.020) and the high-risk group. There was a significant correlation between EBF1, RB1, and IKZF1 alterations and bone marrow relapse. Patients with CNA in screened genes are more likely to succumb to their disease except for those with PAR1 or XP22 genes (p &lt;0.050). CONCLUSION: The multiplex ligation-dependent probe amplification could be considered as an independent diagnostic tool allowing prompt identification of patients at high risk of treatment failure and, subsequently, a more adequate treatment approach.</p>}},
  author       = {{Hosein Pour Feizi, Abbasali and Zeinali, Sirous and Toporski, Jacek and Sheervalilou, Roghayeh and Mehranfar, Sahar}},
  issn         = {{1513-7368}},
  keywords     = {{CDKN2A/B; Childhood acute lymphoblastic leukemia (ALL); copy number alterations (CNA); multiplex ligation-dependent probe amplification (MLPA); PAX5}},
  language     = {{eng}},
  number       = {{12}},
  pages        = {{3493--3500}},
  publisher    = {{Asian Pacific Association for Cancer Education}},
  series       = {{Asian Pacific journal of cancer prevention : APJCP}},
  title        = {{Frequency and Correlation of Common Genes Copy Number Alterations in Childhood Acute Lymphoblastic Leukemia with Prognosis}},
  url          = {{http://dx.doi.org/10.31557/APJCP.2020.21.12.3493}},
  doi          = {{10.31557/APJCP.2020.21.12.3493}},
  volume       = {{21}},
  year         = {{2020}},
}