Improved cytogenetic characterization and risk stratification of pediatric acute lymphoblastic leukemia using single nucleotide polymorphism array analysis: A single center experience of 296 cases

Linda Olsson, Kristina B. Lundin-Ström, Anders Castor, Mikael Behrendtz, Andrea Biloglav, Ulrika Norén-Nyström, Kajsa Paulsson, Bertil Johansson

Research output: Contribution to journalArticlepeer-review

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 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.

Original languageEnglish
Pages (from-to)604-607
JournalGenes Chromosomes and Cancer
Volume57
Issue number11
Early online date2018 Sept 11
DOIs
Publication statusPublished - 2018

Subject classification (UKÄ)

  • Medical Genetics
  • Cancer and Oncology

Free keywords

  • array analysis
  • clinical genetic diagnostics
  • pediatric acute lymphoblastic leukemia
  • single nucleotide polymorphism

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