Improved cytogenetic characterization and risk stratification of pediatric acute lymphoblastic leukemia using single nucleotide polymorphism array analysis : A single center experience of 296 cases
(2018) In Genes Chromosomes and Cancer 57(11). p.604-607- Abstract
Single nucleotide polymorphism array (SNP-A) analyses are increasingly being introduced in routine genetic diagnostics of acute lymphoblastic leukemia (ALL). Despite this, only few studies that have compared the diagnostic value of SNP-A with conventional chromosome banding have been published. We here report such a comparison of 296 ALL cases, the largest series to date. Only genomic imbalances >5 Mb and microdeletions targeting the BTG1, CDKN2A/B, EBF1, ERG, ETV6, IKZF1, PAX5, and RB1 genes and the pseudoautosomal region 1 (PAR1) were ascertained, in agreement with recent guidelines. Of 36 T-cell ALL cases, the karyotypes of 24 cases (67%) were revised by SNP-A analyses that either revealed additional imbalances >5 Mb or better... (More)
Single nucleotide polymorphism array (SNP-A) analyses are increasingly being introduced in routine genetic diagnostics of acute lymphoblastic leukemia (ALL). Despite this, only few studies that have compared the diagnostic value of SNP-A with conventional chromosome banding have been published. We here report such a comparison of 296 ALL cases, the largest series to date. Only genomic imbalances >5 Mb and microdeletions targeting the BTG1, CDKN2A/B, EBF1, ERG, ETV6, IKZF1, PAX5, and RB1 genes and the pseudoautosomal region 1 (PAR1) were ascertained, in agreement with recent guidelines. Of 36 T-cell ALL cases, the karyotypes of 24 cases (67%) were revised by SNP-A analyses that either revealed additional imbalances >5 Mb or better characterized the changes found by G-banding. Of 260 B-cell precursor (BCP) ALL cases, SNP-A analyses identified additional copy number alterations, including the above-mentioned microdeletions, or better characterized the imbalances found by G-banding in 236 (91%) cases. Furthermore, the cytogenetic subtype classification of 41/260 (16%) BCP ALL cases was revised based on the SNP-A findings. Of the subtype revisions, 12/41 (29%) had clinical implications as regards risk stratifying cytogenetic groups or genotype-specific minimal residual disease stratification. We conclude that SNP-A analyses dramatically improve the cytogenetic characterization of both T-cell and BCP ALL and also provide important information pertinent to risk stratification of BCP ALL.
(Less)
- author
- Olsson, Linda LU ; Lundin-Ström, Kristina B. LU ; Castor, Anders LU ; Behrendtz, Mikael ; Biloglav, Andrea LU ; Norén-Nyström, Ulrika ; Paulsson, Kajsa LU and Johansson, Bertil LU
- organization
- publishing date
- 2018-09-11
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- array analysis, clinical genetic diagnostics, pediatric acute lymphoblastic leukemia, single nucleotide polymorphism
- in
- Genes Chromosomes and Cancer
- volume
- 57
- issue
- 11
- pages
- 604 - 607
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:30203896
- scopus:85053404815
- ISSN
- 1045-2257
- DOI
- 10.1002/gcc.22664
- language
- English
- LU publication?
- yes
- id
- 6e1ba612-f637-40bc-9fd1-b74fd757b050
- date added to LUP
- 2018-10-24 09:33:44
- date last changed
- 2024-06-10 20:51:32
@article{6e1ba612-f637-40bc-9fd1-b74fd757b050, abstract = {{<p>Single nucleotide polymorphism array (SNP-A) analyses are increasingly being introduced in routine genetic diagnostics of acute lymphoblastic leukemia (ALL). Despite this, only few studies that have compared the diagnostic value of SNP-A with conventional chromosome banding have been published. We here report such a comparison of 296 ALL cases, the largest series to date. Only genomic imbalances >5 Mb and microdeletions targeting the BTG1, CDKN2A/B, EBF1, ERG, ETV6, IKZF1, PAX5, and RB1 genes and the pseudoautosomal region 1 (PAR1) were ascertained, in agreement with recent guidelines. Of 36 T-cell ALL cases, the karyotypes of 24 cases (67%) were revised by SNP-A analyses that either revealed additional imbalances >5 Mb or better characterized the changes found by G-banding. Of 260 B-cell precursor (BCP) ALL cases, SNP-A analyses identified additional copy number alterations, including the above-mentioned microdeletions, or better characterized the imbalances found by G-banding in 236 (91%) cases. Furthermore, the cytogenetic subtype classification of 41/260 (16%) BCP ALL cases was revised based on the SNP-A findings. Of the subtype revisions, 12/41 (29%) had clinical implications as regards risk stratifying cytogenetic groups or genotype-specific minimal residual disease stratification. We conclude that SNP-A analyses dramatically improve the cytogenetic characterization of both T-cell and BCP ALL and also provide important information pertinent to risk stratification of BCP ALL.</p>}}, author = {{Olsson, Linda and Lundin-Ström, Kristina B. and Castor, Anders and Behrendtz, Mikael and Biloglav, Andrea and Norén-Nyström, Ulrika and Paulsson, Kajsa and Johansson, Bertil}}, issn = {{1045-2257}}, keywords = {{array analysis; clinical genetic diagnostics; pediatric acute lymphoblastic leukemia; single nucleotide polymorphism}}, language = {{eng}}, month = {{09}}, number = {{11}}, pages = {{604--607}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Genes Chromosomes and Cancer}}, title = {{Improved cytogenetic characterization and risk stratification of pediatric acute lymphoblastic leukemia using single nucleotide polymorphism array analysis : A single center experience of 296 cases}}, url = {{http://dx.doi.org/10.1002/gcc.22664}}, doi = {{10.1002/gcc.22664}}, volume = {{57}}, year = {{2018}}, }