PMID- 15571799
OWN - NLM
STAT- MEDLINE
DCOM- 20050111
LR  - 20171116
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 155
IP  - 2
DP  - 2004 Dec
TI  - Complex translocation (8;12;21): a new variant of t(8;21) in acute myeloid 
      leukemia.
PG  - 138-42
AB  - Variants of the t(8;21)(q22;q22) involving chromosomes 8, 21, and other 
      chromosomes account for approximately 3% of all t(8;21)(q22;q22) in acute myeloid 
      leukemia (AML) patients. In this paper, we report a case of AML-M2 with a 
      t(8;12;21)(q22;p12 approximately p13;q22) associated with chromosomal 
      abnormalities, including loss of the Y chromosome and trisomy 8q22 approximately 
      qter. Using a dual-color fluorescence in situ hybridization (FISH) analysis with 
      ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative 
      chromosome 8. Using whole painting probes for chromosomes 8 and 12, we 
      demonstrated a three-way translocation, t(8;12;21)(q22;p12 approximately 
      p13;q22). Reverse transcription polymerase chain reaction (RT-PCR) analysis 
      showed the presence of AML1/ETO fusion transcript. The present case highlights 
      the importance of the combination of approaches, i.e., standard karyotyping, 
      FISH, and RT-PCR, for the detection of variants of t(8;21)(q22;q22), shedding 
      light on region 8q22 approximately qter which could harbor potential genes 
      responsible for leukemogenesis.
FAU - Farra, C
AU  - Farra C
AD  - Research Genetic Laboratory, Chronic Care Center, Research Genetic Laboratory, 
      Hazmieh, Lebanon. ccgenlab@dm.net.lb
FAU - Awwad, J
AU  - Awwad J
FAU - Valent, A
AU  - Valent A
FAU - Lozach, F
AU  - Lozach F
FAU - Bernheim, A
AU  - Bernheim A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (AML1-ETO fusion protein, human)
RN  - 0 (Codon, Terminator)
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (DNA Probes)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RUNX1 Translocation Partner 1 Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Bone Marrow/pathology
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 8
MH  - Codon, Terminator
MH  - Core Binding Factor Alpha 2 Subunit
MH  - DNA Probes
MH  - Electrophoresis, Agar Gel
MH  - *Genetic Variation
MH  - Humans
MH  - Immunophenotyping
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Oncogene Proteins, Fusion/genetics
MH  - RUNX1 Translocation Partner 1 Protein
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Transcription Factors/genetics
MH  - *Translocation, Genetic
MH  - Trisomy/diagnosis/genetics
EDAT- 2004/12/02 09:00
MHDA- 2005/01/12 09:00
CRDT- 2004/12/02 09:00
PHST- 2003/12/03 00:00 [received]
PHST- 2004/03/23 00:00 [revised]
PHST- 2004/03/24 00:00 [accepted]
PHST- 2004/12/02 09:00 [pubmed]
PHST- 2005/01/12 09:00 [medline]
PHST- 2004/12/02 09:00 [entrez]
AID - S0165-4608(04)00163-3 [pii]
AID - 10.1016/j.cancergencyto.2004.03.016 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2004 Dec;155(2):138-42. doi: 
      10.1016/j.cancergencyto.2004.03.016.