PMID- 24507461
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140228
LR  - 20211021
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 7
IP  - 1
DP  - 2014 Feb 7
TI  - PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the 
      literature.
PG  - 13
LID - 10.1186/1755-8166-7-13 [doi]
AB  - BACKGROUND: B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is 
      characterized by recurrent genetic alterations including chromosomal 
      translocations. The transcription factor PAX5, which is pivotal for B-cell 
      commitment and maintenance, is affected by rearrangements, which lead to the 
      expression of in-frame fusion genes in about 2.5% of the cases. RESULTS: Using 
      conventional cytogenetics, fluorescence in situ hybridization (FISH), and 
      molecular methods, an additional case with a der(9)t(7;9)(q11.23;p13) resulting 
      in the expression of a PAX5-ELN fusion gene was identified. Furthermore, a 
      general review of leukemia harboring a t(7;9)(q11.2;p13) or 
      der(9)t(7;9)(q11.2;p13), which occurs more often in children than in adults and 
      shows a remarkably high male preponderance, is given. These cytogenetically 
      highly similar translocations lead to the expression of one of three different in 
      frame PAX5-fusions, namely with AUTS2 (7q11.22), ELN (7q11.23), or POM121 
      (7q11.23), which constitute the only currently known cluster of PAX5 partner 
      genes. CONCLUSION: Our report underlines the recurrent involvement of PAX5 in 
      different fusion genes resulting either from t(7;9)(q11.2;p13) or 
      der(9)t(7;9)(q11.2;p13), which cannot be distinguished cytogenetically and whose 
      discrimination requires molecular analysis.
FAU - Denk, Dagmar
AU  - Denk D
FAU - Bradtke, Jutta
AU  - Bradtke J
FAU - Konig, Margit
AU  - Konig M
FAU - Strehl, Sabine
AU  - Strehl S
AD  - CCRI, Children's Cancer Research Institute, St, Anna Kinderkrebsforschung e,V,, 
      Zimmermannplatz 10, 1090 Vienna, Austria. sabine.strehl@ccri.at.
LA  - eng
PT  - Case Reports
DEP - 20140207
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC3937052
EDAT- 2014/02/11 06:00
MHDA- 2014/02/11 06:01
PMCR- 2014/02/07
CRDT- 2014/02/11 06:00
PHST- 2013/12/02 00:00 [received]
PHST- 2014/01/29 00:00 [accepted]
PHST- 2014/02/11 06:00 [entrez]
PHST- 2014/02/11 06:00 [pubmed]
PHST- 2014/02/11 06:01 [medline]
PHST- 2014/02/07 00:00 [pmc-release]
AID - 1755-8166-7-13 [pii]
AID - 10.1186/1755-8166-7-13 [doi]
PST - epublish
SO  - Mol Cytogenet. 2014 Feb 7;7(1):13. doi: 10.1186/1755-8166-7-13.