PMID- 12699886
OWN - NLM
STAT- MEDLINE
DCOM- 20030515
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 142
IP  - 2
DP  - 2003 Apr 15
TI  - Molecular cytogenetic characterization of breakpoints in 19 patients with 
      hematologic malignancies and 12p unbalanced translocations.
PG  - 115-9
AB  - Structural rearrangements of the short arm of chromosome 12 are frequent 
      cytogenetic findings in various hematologic malignancies. The ETV6 gene is the 
      most common target for rearrangements in 12p13. Fluorescence in situ 
      hybridization (FISH) investigations have shown that translocations of 12p other 
      than t(12;21) are frequently accompanied by small interstitial deletions that 
      include ETV6. Unbalanced translocations involving ETV6 have rarely been 
      described, and breakpoints outside ETV6 appear to be strongly associated with 
      complex karyotypes. We studied bone marrow samples from 19 patients known to have 
      12p unbalanced translocations and complex karyotypes, using FISH and spectral 
      karyotyping. FISH analysis confirmed the hemizygous deletion of the ETV6 and 
      CDKN1B genes in 74% of cases. We found four cases with interstitial deletions. In 
      these four cases and in two others (6/19, 31.5%), the fusion with the partner 
      chromosome was in the subtelomeric region of 12p13.3, confirming that there is a 
      recurrent breakpoint in this region.
FAU - Odero, Maria D
AU  - Odero MD
AD  - Department of Genetics, University of Navarra, C/ Irunlarrea s/n, 31008, 
      Pamplona, Spain. modero@unav.es
FAU - Carlson, Katrin
AU  - Carlson K
FAU - Lahortiga, Idoya
AU  - Lahortiga I
FAU - Calasanz, Maria J
AU  - Calasanz MJ
FAU - Rowley, Janet D
AU  - Rowley JD
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Bone Marrow/metabolism
MH  - Child
MH  - Chromosome Breakage/*genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Female
MH  - Hematologic Neoplasms/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymph Nodes/metabolism
MH  - Male
MH  - Middle Aged
MH  - Spectral Karyotyping
MH  - Translocation, Genetic/*genetics
EDAT- 2003/04/18 05:00
MHDA- 2003/05/16 05:00
CRDT- 2003/04/18 05:00
PHST- 2003/04/18 05:00 [pubmed]
PHST- 2003/05/16 05:00 [medline]
PHST- 2003/04/18 05:00 [entrez]
AID - S0165460802007288 [pii]
AID - 10.1016/s0165-4608(02)00728-8 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2003 Apr 15;142(2):115-9. doi: 
      10.1016/s0165-4608(02)00728-8.