scholarly journals Sister chromatid cohesion defects are associated with chromosomal copy number heterogeneity in high hyperdiploid childhood acute lymphoblastic leukemia

2020 ◽  
Author(s):  
Larissa H. Moura‐Castro ◽  
Pablo Peña‐Martínez ◽  
Anders Castor ◽  
Roman Galeev ◽  
Jonas Larsson ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Sister Chromatid ◽  
Copy Number ◽  
Lymphoblastic Leukemia ◽  
Sister Chromatid Cohesion ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Chromatid Cohesion ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy

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

2020 ◽  
Vol 21 (12) ◽  
pp. 3493-3500
Author(s):  
Abbasali Hosein Pour feizi ◽  
Sirous Zeinali ◽  
Jacek Toporski ◽  
Roghayeh Sheervalilou ◽  
Sahar Mehranfar
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Copy Number ◽  
Lymphoblastic Leukemia ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Copy Number Alterations

scholarly journals Genome-wide copy number profiling reveals molecular evolution from diagnosis to relapse in childhood acute lymphoblastic leukemia

Blood ◽  
2008 ◽  
Vol 112 (10) ◽  
pp. 4178-4183 ◽  
Author(s):  
Jun J. Yang ◽  
Deepa Bhojwani ◽  
Wenjian Yang ◽  
Xiangjun Cai ◽  
Gabriele Stocco ◽  
...  
Keyword(s):  
Gene Expression ◽  
Acute Lymphoblastic Leukemia ◽  
Molecular Evolution ◽  
Copy Number ◽  
Germ Line ◽  
Lymphoblastic Leukemia ◽  
Global Gene Expression ◽  
Disease Recurrence ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Copy Number Changes

Abstract The underlying pathways that lead to relapse in childhood acute lymphoblastic leukemia (ALL) are unknown. To comprehensively characterize the molecular evolution of relapsed childhood B-precursor ALL, we used human 500K single-nucleotide polymorphism arrays to identify somatic copy number alterations (CNAs) in 20 diagnosis/relapse pairs relative to germ line. We identified 758 CNAs, 66.4% of which were less than 1 Mb, and deletions outnumbered amplifications by approximately 2.5:1. Although CNAs persisting from diagnosis to relapse were observed in all 20 cases, 17 patients exhibited differential CNA patterns from diagnosis to relapse. Of the 396 CNAs observed in 20 relapse samples, only 69 (17.4%) were novel (absent in the matched diagnosis samples). EBF1 and IKZF1 deletions were particularly frequent in this relapsed ALL cohort (25.0% and 35.0%, respectively), suggesting their role in disease recurrence. In addition, we noted concordance in global gene expression and DNA copy number changes (P = 2.2 × 10−16). Finally, relapse-specific focal deletion of MSH6 and, consequently, reduced gene expression were found in 2 of 20 cases. In an independent cohort of children with ALL, reduced expression of MSH6 was associated with resistance to mercaptopurine and prednisone, thereby providing a plausible mechanism by which this acquired deletion contributes to drug resistance at relapse.

scholarly journals Modification of topoisomerase genes copy number in newly diagnosed childhood acute lymphoblastic leukemia

Leukemia ◽  
2003 ◽  
Vol 17 (3) ◽  
pp. 532-540 ◽  
Author(s):  
E Guérin ◽  
N Entz-Werlé ◽  
D Eyer ◽  
E Pencreac'h ◽  
A Schneider ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Copy Number ◽  
Lymphoblastic Leukemia ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Newly Diagnosed

Copy number alterations in childhood acute lymphoblastic leukemia and their association with minimal residual disease

2008 ◽  
Vol 47 (6) ◽  
pp. 471-480 ◽  
Author(s):  
Doris Steinemann ◽  
Gunnar Cario ◽  
Martin Stanulla ◽  
Leonid Karawajew ◽  
Marcel Tauscher ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Minimal Residual Disease ◽  
Copy Number ◽  
Residual Disease ◽  
Lymphoblastic Leukemia ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Copy Number Alterations ◽  
Minimal Residual

A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups

Blood ◽  
2009 ◽  
Vol 113 (1) ◽  
pp. 100-107 ◽  
Author(s):  
Sarina Sulong ◽  
Anthony V. Moorman ◽  
Julie A. E. Irving ◽  
Jonathan C. Strefford ◽  
Zoe J. Konn ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Loss Of Heterozygosity ◽  
Copy Number ◽  
Lymphoblastic Leukemia ◽  
Neutral Loss ◽  
Suppressor Gene ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Comparative Genomic ◽  
Childhood All ◽  
Genomic Deletion

Abstract Inactivation of the tumor suppressor gene, CDKN2A, can occur by deletion, methylation, or mutation. We assessed the principal mode of inactivation in childhood acute lymphoblastic leukemia (ALL) and frequency in biologically relevant subgroups. Mutation or methylation was rare, whereas genomic deletion occurred in 21% of B-cell precursor ALL and 50% of T-ALL patients. Single nucleotide polymorphism arrays revealed copy number neutral (CNN) loss of heterozygosity (LOH) in 8% of patients. Array-based comparative genomic hybridization demonstrated that the mean size of deletions was 14.8 Mb and biallelic deletions composed a large and small deletion (mean sizes, 23.3 Mb and 1.4 Mb). Among 86 patients, only 2 small deletions were below the resolution of detection by fluorescence in situ hybridization. Patients with high hyperdiploidy, ETV6-RUNX1, or 11q23/MLL rearrangements had low rates of deletion (11%, 15%, 13%), whereas patients with t(9;22), t(1;19), TLX3, or TLX1 rearrangements had higher frequencies (61%, 42%, 78%, and 89%). In conclusion, CDKN2A deletion is a significant secondary abnormality in childhood ALL strongly correlated with phenotype and genotype. The variation in the incidence of CDKN2A deletions by cytogenetic subgroup may explain its inconsistent association with outcome. CNN LOH without apparent CDKN2A inactivation suggests the presence of other relevant genes in this region.

Genetic characterization of high hyperdiploidy in childhood acute lymphoblastic leukemia

2009 ◽  
Vol 221 (03) ◽  
Author(s):  
R Vagkopoulou ◽  
C Eckert ◽  
U Ungethüm ◽  
G Körner ◽  
M Stanulla ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Genetic Characterization ◽  
Lymphoblastic Leukemia ◽  
Childhood Acute Lymphoblastic Leukemia
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