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Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease

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Author

  • Kajsa Paulsson
  • Jean-Baptiste Cazier
  • Finlay MacDougall
  • Jane Stevens
  • Irina Stasevich
  • Nikoletta Vrcelj
  • Tracy Chaplin
  • Debra M Lillington
  • T Andrew Lister
  • Bryan D Young

Summary, in English

We present here a genome-wide map of abnormalities found in diagnostic samples from 45 adults and adolescents with acute lymphoblastic leukemia (ALL). A 500K SNP array analysis uncovered frequent genetic abnormalities, with cryptic deletions constituting half of the detected changes, implying that microdeletions are a characteristic feature of this malignancy. Importantly, the pattern of deletions resembled that recently reported in pediatric ALL, suggesting that adult, adolescent, and childhood cases may be more similar on the genetic level than previously thought. Thus, 70% of the cases displayed deletion of one or more of the CDKN2A, PAX5, IKZF1, ETV6, RB1, and EBF1 genes. Furthermore, several genes not previously implicated in the pathogenesis of ALL were identified as possible recurrent targets of deletion. In total, the SNP array analysis identified 367 genetic abnormalities not corresponding to known copy number polymorphisms, with all but two cases (96%) displaying at least one cryptic change. The resolution level of this SNP array study is the highest used to date to investigate a malignant hematologic disorder. Our findings provide insights into the leukemogenic process and may be clinically important in adult and adolescent ALL. Most importantly, we report that microdeletions of key genes appear to be a common, characteristic feature of ALL that is shared among different clinical, morphological, and cytogenetic subgroups.

Publishing year

2008

Language

English

Pages

6708-6713

Publication/Series

Proceedings of the National Academy of Sciences

Volume

105

Issue

18

Document type

Journal article

Publisher

National Academy of Sciences

Topic

  • Medical Genetics

Keywords

  • 22)
  • t(9
  • deletions
  • genetic abnormality

Status

Published

ISBN/ISSN/Other

  • ISSN: 1091-6490