PMID- 15676152
OWN - NLM
STAT- MEDLINE
DCOM- 20050303
LR  - 20091119
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 157
IP  - 1
DP  - 2005 Feb
TI  - Molecular and cytogenetic characterization of a novel rearrangement involving 
      chromosomes 9, 12, and 17 resulting in ETV6 (TEL) and ABL fusion.
PG  - 74-7
AB  - We performed chromosome analysis on the bone marrow of a patient with BCR/ABL 
      negative chronic myelogenous leukemia (CML). By interphase fluorescence in situ 
      hybridization (FISH), an extra ABL signal was present in interphase nuclei and 
      appeared to be located at 17p in the metaphase cells. Chromosome analysis showed 
      a subtle abnormality at 17p13 and 12p13 but no visible rearrangement at 9q34 
      (ABL). Additional FISH experiments disclosed a rearrangement between the short 
      arms of chromosomes 12 and 17 at approximately bands 12p13 and 17p13, 
      respectively. In addition, subtelomeric FISH analysis confirmed the presence of 
      terminal 12p at 17p13 and showed terminal 9q34 to be intact on each chromosome 9. 
      Taken together, these results indicated a rearrangement involving chromosomes 9, 
      12, and 17 that suggested the possibility of juxtaposition of part of the ETV6 
      (also known as TEL) locus (12p13) with a portion of ABL (9q34) together at 17p13. 
      The ETV6/ABL fusion was confirmed by RT-PCR, which showed that the first 5 exons 
      of ETV6 were fused in frame with ABL at exon 2. Wild-type ETV6 and ABL were also 
      expressed, in accordance with the FISH results that showed no loss of the second 
      ETV6 or ABL allele.
FAU - Tirado, C A
AU  - Tirado CA
AD  - Department of Pathology, Duke University Medical Center, Box 3631, M347 Davison 
      Bldg., Durham, NC 27710, USA. carlos.a.tirado@questdiagnostics.com
FAU - Sebastian, S
AU  - Sebastian S
FAU - Moore, J O
AU  - Moore JO
FAU - Gong, J Z
AU  - Gong JZ
FAU - Goodman, B K
AU  - Goodman BK
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (TEL-ABL fusion protein, human)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
SB  - IM
MH  - Aged
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 17
MH  - *Chromosomes, Human, Pair 9
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Protein-Tyrosine Kinases
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Translocation, Genetic/*genetics
EDAT- 2005/01/29 09:00
MHDA- 2005/03/04 09:00
CRDT- 2005/01/29 09:00
PHST- 2004/03/02 00:00 [received]
PHST- 2004/05/26 00:00 [revised]
PHST- 2004/06/03 00:00 [accepted]
PHST- 2005/01/29 09:00 [pubmed]
PHST- 2005/03/04 09:00 [medline]
PHST- 2005/01/29 09:00 [entrez]
AID - S0165-4608(04)00242-0 [pii]
AID - 10.1016/j.cancergencyto.2004.06.001 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2005 Feb;157(1):74-7. doi: 
      10.1016/j.cancergencyto.2004.06.001.