PMID- 15721634
OWN - NLM
STAT- MEDLINE
DCOM- 20050413
LR  - 20231213
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 157
IP  - 2
DP  - 2005 Mar
TI  - Molecular cytogenetic characterization of rearrangements involving 12p in 
      leukemia.
PG  - 134-9
AB  - Translocations involving the short arm of chromosome 12 are frequent events among 
      patients with various hematologic malignancies. In approximately half of these 
      patients, fluorescence in situ hybridization (FISH) analysis has shown that the 
      breakpoints are clustered within the ETS-variant gene 6 (ETV6) at 12p13, leading 
      to its fusion with a variety of partner genes on different chromosomes. The 
      remaining patients have breakpoints centromeric or telomeric to ETV6 or, less 
      frequently, interstitial 12p13 deletions that invariably involve this gene. In 
      most cases reported, 12p translocations were found to be associated with other 
      structural and/or numerical abnormalities as part of a complex karyotype. 
      Initially using conventional cytogenetic analysis, we characterized the 
      chromosomal breakpoints of three leukemia patients (two with B-acute 
      lymphoblastic leukemia and one with myelodysplastic/myeloproliferative disorder) 
      presenting a t(5;12)(q13;p13), t(12;15)(p13;q22), and dic(9;12)(p11;p11), 
      respectively, as the only structural abnormalities in the karyotype. These 
      rearrangements were further investigated using FISH and molecular studies. Two 
      cases revealed cryptic three-way translocations that had gone undetected in the 
      conventional cytogenetic analyses. One of the cases presented an ETV6 
      rearrangement with an unsuspected fusion, with the CBFA2 gene at 21q22. In the 
      other two, small and large 12p deletions that included ETV6 were found. This 
      report illustrates the chromosomal and molecular heterogeneity of rearrangements 
      underlying 12p chromosome translocations in leukemia.
FAU - Vieira, L
AU  - Vieira L
AD  - Centro de Genetica Humana, Instituto Nacional de Saude Dr. Ricardo Jorge, Av. 
      Padre Cruz, 1649-016 Lisboa, Portugal. luis.vieira@insa.min-saude.pt
FAU - Marques, B
AU  - Marques B
FAU - Cavaleiro, C
AU  - Cavaleiro C
FAU - Ambrosio, A P
AU  - Ambrosio AP
FAU - Jorge, M
AU  - Jorge M
FAU - Neto, A
AU  - Neto A
FAU - Costa, J M
AU  - Costa JM
FAU - Junior, E C
AU  - Junior EC
FAU - Boavida, M G
AU  - Boavida MG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - Aged
MH  - Artificial Gene Fusion
MH  - Child
MH  - Chromosome Breakage
MH  - *Chromosomes, Human, Pair 12
MH  - DNA-Binding Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia/*genetics
MH  - Male
MH  - Proto-Oncogene Proteins c-ets
MH  - Repressor Proteins/*genetics
MH  - Translocation, Genetic
MH  - ETS Translocation Variant 6 Protein
EDAT- 2005/02/22 09:00
MHDA- 2005/04/14 09:00
CRDT- 2005/02/22 09:00
PHST- 2004/07/06 00:00 [received]
PHST- 2004/07/27 00:00 [accepted]
PHST- 2005/02/22 09:00 [pubmed]
PHST- 2005/04/14 09:00 [medline]
PHST- 2005/02/22 09:00 [entrez]
AID - S0165-4608(04)00317-6 [pii]
AID - 10.1016/j.cancergencyto.2004.08.013 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2005 Mar;157(2):134-9. doi: 
      10.1016/j.cancergencyto.2004.08.013.