Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells.
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.
Akagi
Tadayuki
T
Department of Stem Cell Biology, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, Japan. tadayuki@staff.kanazawa-u.ac.jp
Shih
Lee-Yung
LY
Ogawa
Seishi
S
Gerss
Joachim
J
Moore
Stephen R
SR
Schreck
Rhona
R
Kawamata
Norihiko
N
Liang
Der-Cherng
DC
Sanada
Masashi
M
Nannya
Yasuhito
Y
Deneberg
Stefan
S
Zachariadis
Vasilios
V
Nordgren
Ann
A
Song
Jee Hoon
JH
Dugas
Martin
M
Lehmann
Sören
S
Koeffler
H Phillip
HP
D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D018572:Disease-Free Survival; D015894:Genome, Human; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000401:mortality; D019656:Loss of Heterozygosity / Q000235:genetics; D020125:Mutation, Missense; D020411:Oligonucleotide Array Sequence Analysis; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D051573:Proto-Oncogene Proteins c-pim-1 / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D015996:Survival Rate; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D019009:Proto-Oncogene Proteins c-kit; C496634:PIM1 protein, human; D051573:Proto-Oncogene Proteins c-pim-1