Targeted Resequencing of 9p in Acute Lymphoblastic Leukemia Yields Concordant Results with Array CGH and Reveals Novel Genomic Alterations

V.K. Sarhadi, L.M. Lahti, I. Scheinin, A. Tyybäkinoja, S. Savola, A. Usvasalo, R. Räty, E. Elonen, U.M. Saarinen-Pihkala, S. Knuutila

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)

Abstract

Genetic alterations of the short arm of chromosome 9 are frequent in acute lymphoblastic leukemia. We performed targeted sequencing of 9p region in 35 adolescent and adult acute lymphoblastic leukemia patients and sought to investigate the sensitivity of detecting copy number alterations in comparison with array comparative genomic hybridization (aCGH), and besides, to detect novel genetic anomalies. We found a high concordance of copy number variations (CNVs) as detected by next generation sequencing (NGS) and aCGH. By both methodologies, the recurrent deletion at CDKN2A/B locus was identified, whereas NGS revealed additional, small regions of CNVs, seen more frequently in adult patients, while aCGH was better at detecting larger CNVs. Also, by NGS, we detected novel structural variations, novel SNVs and small insertion/deletion variants. Our results show that NGS, in addition to detecting mutations and other genetic aberrations, can be used to study CNVs
Original languageEnglish
Pages (from-to)182-188
JournalGenomics
Volume102
Issue number3
DOIs
Publication statusPublished - 2013

Keywords

  • gene
  • cancer
  • heterozygosity
  • association
  • expression
  • deletions
  • growth

Fingerprint Dive into the research topics of 'Targeted Resequencing of 9p in Acute Lymphoblastic Leukemia Yields Concordant Results with Array CGH and Reveals Novel Genomic Alterations'. Together they form a unique fingerprint.

  • Cite this

    Sarhadi, V. K., Lahti, L. M., Scheinin, I., Tyybäkinoja, A., Savola, S., Usvasalo, A., Räty, R., Elonen, E., Saarinen-Pihkala, U. M., & Knuutila, S. (2013). Targeted Resequencing of 9p in Acute Lymphoblastic Leukemia Yields Concordant Results with Array CGH and Reveals Novel Genomic Alterations. Genomics, 102(3), 182-188. https://doi.org/10.1016/j.ygeno.2013.01.001