Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells

Tadayuki Akagi, Lee Yung Shih, Seishi Ogawa, Joachim Gerss, Stephen R. Moore, Rhona Schreck, Norihiko Kawamata, Der Cherng Liang, Masashi Sanada, Yasuhito Nannya, Stefan Deneberg, Vasilios Zachariadis, Ann Nordgren, Jee Hoon Song, Martin Dugas, Sören Lehmann, H. Phillip Koeffler

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Translocation of chromosomes 8 and 21, t(8;21), resulting in the AML1-ETO fusion gene, is associated with acute myeloid leukemia. We searched for additional genomic abnormalities in this acute myeloid leukemia subtype by performing single nucleotide polymorphism genomic arrays (SNP-chip) analysis on 48 newly diagnosed cases. Thirty-two patients (67%) had a normal genome by SNP-chip analysis (Group A), and 16 patients (33%) had one or more genomic abnormalities including copy number changes or copy number neutral loss of heterozygosity (Group B). Two samples had copy number neutral loss of heterozygosity on chromosome 6p including the PIM1 gene; and one of these cases had E135K mutation of Pim1. Interestingly, 38% of Group B and only 13% of Group A samples had a KIT-D816 mutation, suggesting that genomic alterations are often associated with a KIT-D816 mutation. Importantly, prognostic analysis revealed that overall survival and event-free survival of individuals in Group B were significantly worse than those in Group A.

Original languageEnglish (US)
Pages (from-to)1301-1306
Number of pages6
JournalHaematologica
Volume94
Issue number9
DOIs
StatePublished - Sep 2009

Keywords

  • AML1-ETO
  • CNN-LOH
  • KIT
  • PIM1
  • SNP-chip
  • t(8;21)

ASJC Scopus subject areas

  • Hematology

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    Akagi, T., Shih, L. Y., Ogawa, S., Gerss, J., Moore, S. R., Schreck, R., Kawamata, N., Liang, D. C., Sanada, M., Nannya, Y., Deneberg, S., Zachariadis, V., Nordgren, A., Song, J. H., Dugas, M., Lehmann, S., & Koeffler, H. P. (2009). Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells. Haematologica, 94(9), 1301-1306. https://doi.org/10.3324/haematol.2009.005744