liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Improved cytogenetic characterization and risk stratification of pediatric acute lymphoblastic leukemia using single nucleotide polymorphism array analysis: A single center experience of 296 cases
Div Lab Med, Sweden.
Lund Univ, Sweden.
Skåne Univ Hosp, Sweden.
Region Östergötland, Center of Paediatrics and Gynaecology and Obstetrics, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus. Linköping University, Department of Clinical and Experimental Medicine, Division of Children's and Women's health. Linköping University, Faculty of Medicine and Health Sciences.
Show others and affiliations
2018 (English)In: Genes, Chromosomes and Cancer, ISSN 1045-2257, E-ISSN 1098-2264, Vol. 57, no 11, p. 604-607Article in journal (Refereed) Published
Abstract [en]

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 amp;gt;5Mb 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 amp;gt;5Mb 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.

Place, publisher, year, edition, pages
WILEY , 2018. Vol. 57, no 11, p. 604-607
Keywords [en]
array analysis; clinical genetic diagnostics; pediatric acute lymphoblastic leukemia; single nucleotide polymorphism
National Category
Medical Genetics and Genomics
Identifiers
URN: urn:nbn:se:liu:diva-152602DOI: 10.1002/gcc.22664ISI: 000447757100009PubMedID: 30203896OAI: oai:DiVA.org:liu-152602DiVA, id: diva2:1262130
Note

Funding Agencies|Governmental Funding of Clinical Research within the National Health Service [2014/354]; the Swedish Research Council [2016-01084]; The Swedish Childhood Cancer Foundation [PR2015-0006]; The Swedish cancer society [CAN 2017/291]; the Crafoord foundation

Available from: 2018-11-09 Created: 2018-11-09 Last updated: 2025-02-10

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMed

Authority records

Behrendtz, Mikael

Search in DiVA

By author/editor
Behrendtz, Mikael
By organisation
H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhusDivision of Children's and Women's healthFaculty of Medicine and Health Sciences
In the same journal
Genes, Chromosomes and Cancer
Medical Genetics and Genomics

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 74 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf