Patterns and Frequencies of Acquired and Constitutional Uniparental Isodisomies in Pediatric and Adult B-Cell Precursor Acute Lymphoblastic Leukemia.
(2016) In Genes, Chromosomes and Cancer 55(5). p.472-479- Abstract
- Single nucleotide polymorphism (SNP) arrays are increasingly being used in clinical routine for genetic analysis of pediatric B-cell precursor acute lymphoblastic leukemias (BCP ALL). Because constitutional DNA is not readily available as a control at the time of diagnosis, it is important to be able to distinguish between acquired and constitutional aberrations in a diagnostic setting. In the present study we focused on uniparental isodisomies (UPIDs). SNP array analyses of 143 pediatric and 38 adult B-cell precursor acute lymphoblastic leukemias and matched remission samples revealed acquired whole chromosome or segmental UPIDs (wUPIDs, sUPIDs) in 32 cases (18%), without any age- or gender-related frequency differences. Acquired sUPIDs... (More)
- Single nucleotide polymorphism (SNP) arrays are increasingly being used in clinical routine for genetic analysis of pediatric B-cell precursor acute lymphoblastic leukemias (BCP ALL). Because constitutional DNA is not readily available as a control at the time of diagnosis, it is important to be able to distinguish between acquired and constitutional aberrations in a diagnostic setting. In the present study we focused on uniparental isodisomies (UPIDs). SNP array analyses of 143 pediatric and 38 adult B-cell precursor acute lymphoblastic leukemias and matched remission samples revealed acquired whole chromosome or segmental UPIDs (wUPIDs, sUPIDs) in 32 cases (18%), without any age- or gender-related frequency differences. Acquired sUPIDs were larger than the constitutional ones (mean 35.3 Mb vs. 10.7 Mb; P<0.0001) and were more often terminally located in the chromosomes (69% vs. 4.5%; P<0.0001). Chromosomes 3, 5, and 9 were most often involved in acquired wUPIDs, whilst recurrent acquired sUPIDs targeted 6p, 9p, 9q, and 14q. The majority (56%) of sUPID9p was associated with homozygous CDKN2A deletions. In pediatric ALL, all wUPIDs were found in high hyperdiploid (51-67 chromosomes) cases and an extended analysis, also including unmatched diagnostic samples, revealed a higher frequency of wUPID-positivity in higher modal number (56-67 chromosomes) than in lower modal number (51-55 chromosomes) high hyperdiploid cases (34% versus 11%; P=0.04), suggesting different underlying mechanisms of formation of these subtypes of high hyperdiploidy. This article is protected by copyright. All rights reserved. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/8577540
- author
- Lundin, Kristina LU ; Olsson, Linda LU ; Safavi, Setareh LU ; Biloglav, Andrea LU ; Paulsson, Kajsa LU and Johansson, Bertil LU
- organization
- publishing date
- 2016-01-16
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Genes, Chromosomes and Cancer
- volume
- 55
- issue
- 5
- pages
- 472 - 479
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:26773847
- scopus:84957674346
- wos:000372913800007
- pmid:26773847
- ISSN
- 1045-2257
- DOI
- 10.1002/gcc.22349
- language
- English
- LU publication?
- yes
- id
- 55cb51b9-00af-4156-a9a3-1cf67c8b7f94 (old id 8577540)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/26773847?dopt=Abstract
- date added to LUP
- 2016-04-04 07:31:16
- date last changed
- 2022-04-07 22:46:32
@article{55cb51b9-00af-4156-a9a3-1cf67c8b7f94, abstract = {{Single nucleotide polymorphism (SNP) arrays are increasingly being used in clinical routine for genetic analysis of pediatric B-cell precursor acute lymphoblastic leukemias (BCP ALL). Because constitutional DNA is not readily available as a control at the time of diagnosis, it is important to be able to distinguish between acquired and constitutional aberrations in a diagnostic setting. In the present study we focused on uniparental isodisomies (UPIDs). SNP array analyses of 143 pediatric and 38 adult B-cell precursor acute lymphoblastic leukemias and matched remission samples revealed acquired whole chromosome or segmental UPIDs (wUPIDs, sUPIDs) in 32 cases (18%), without any age- or gender-related frequency differences. Acquired sUPIDs were larger than the constitutional ones (mean 35.3 Mb vs. 10.7 Mb; P<0.0001) and were more often terminally located in the chromosomes (69% vs. 4.5%; P<0.0001). Chromosomes 3, 5, and 9 were most often involved in acquired wUPIDs, whilst recurrent acquired sUPIDs targeted 6p, 9p, 9q, and 14q. The majority (56%) of sUPID9p was associated with homozygous CDKN2A deletions. In pediatric ALL, all wUPIDs were found in high hyperdiploid (51-67 chromosomes) cases and an extended analysis, also including unmatched diagnostic samples, revealed a higher frequency of wUPID-positivity in higher modal number (56-67 chromosomes) than in lower modal number (51-55 chromosomes) high hyperdiploid cases (34% versus 11%; P=0.04), suggesting different underlying mechanisms of formation of these subtypes of high hyperdiploidy. This article is protected by copyright. All rights reserved.}}, author = {{Lundin, Kristina and Olsson, Linda and Safavi, Setareh and Biloglav, Andrea and Paulsson, Kajsa and Johansson, Bertil}}, issn = {{1045-2257}}, language = {{eng}}, month = {{01}}, number = {{5}}, pages = {{472--479}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Genes, Chromosomes and Cancer}}, title = {{Patterns and Frequencies of Acquired and Constitutional Uniparental Isodisomies in Pediatric and Adult B-Cell Precursor Acute Lymphoblastic Leukemia.}}, url = {{https://lup.lub.lu.se/search/files/10990211/5141952.pdf}}, doi = {{10.1002/gcc.22349}}, volume = {{55}}, year = {{2016}}, }