PMID- 9885986
OWN - NLM
STAT- MEDLINE
DCOM- 19990604
LR  - 20191024
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 24
IP  - 2
DP  - 1999 Feb
TI  - Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or 
      ETO genes.
PG  - 165-71
AB  - We report on the molecular characterization of two acute myeloid leukemias (AML), 
      one AML-M1 (patient 1) and one AML-M2 (patient 2) with t(8;21)(p21;q22) and 
      t(8;20)(q22;p13), respectively, at diagnosis. The locations of the breakpoints, 
      21q22 in patient 1 and 8q22 in patient 2, prompted us to search for a cryptic 
      t(8;21)(q22;q22) and involvement of the AML1 and ETO genes. Dual-color 
      fluorescence in situ hybridization (FISH) using whole chromosome painting probes 
      for chromosomes 8, 20, and 21 confirmed the conventional cytogenetic karyotypes. 
      However, dual-color FISH using appropriate ETO and AML1 probes disclosed an 
      insertion of AML1 into 8q22 on the derivative chromosome 8 in patient 1 and of 
      ETO into 21q22 on one chromosome 21 in patient 2, leading to AML1-ETO fusion 
      signals. Both cases expressed an AML1-ETO transcript, shown by reverse 
      transcriptase polymerase chain reaction and cDNA sequencing. Creation of 
      functional AML1-ETO fusion genes in these two simple variant t(8;21) probably 
      occurred through complex mechanisms, combining translocation and insertion of 
      chromosomal segments.
FAU - Taviaux, S
AU  - Taviaux S
AD  - CNRS-IGH, Montpellier, France.
FAU - Brunel, V
AU  - Brunel V
FAU - Dupont, M
AU  - Dupont M
FAU - Fernandez, F
AU  - Fernandez F
FAU - Ferraz, C
AU  - Ferraz C
FAU - Carbuccia, N
AU  - Carbuccia N
FAU - Sainty, D
AU  - Sainty D
FAU - Demaille, J
AU  - Demaille J
FAU - Birg, F
AU  - Birg F
FAU - Lafage-Pochitaloff, M
AU  - Lafage-Pochitaloff M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (AML1-ETO fusion protein, human)
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RUNX1 Translocation Partner 1 Protein)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Core Binding Factor Alpha 2 Subunit
MH  - Female
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - *Oncogene Proteins, Fusion
MH  - RUNX1 Translocation Partner 1 Protein
MH  - Recombinant Fusion Proteins/genetics
MH  - Transcription Factors/*genetics
MH  - Translocation, Genetic/*genetics
EDAT- 1999/01/14 03:01
MHDA- 2000/06/20 09:00
CRDT- 1999/01/14 03:01
PHST- 1999/01/14 03:01 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/01/14 03:01 [entrez]
AID - 10.1002/(SICI)1098-2264(199902)24:2<165::AID-GCC12>3.0.CO;2-1 [pii]
AID - 10.1002/(sici)1098-2264(199902)24:2<165::aid-gcc12>3.0.co;2-1 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1999 Feb;24(2):165-71. doi: 
      10.1002/(sici)1098-2264(199902)24:2<165::aid-gcc12>3.0.co;2-1.