PMID- 16673019
OWN - NLM
STAT- MEDLINE
DCOM- 20070926
LR  - 20130304
IS  - 0887-6924 (Print)
IS  - 0887-6924 (Linking)
VI  - 20
IP  - 7
DP  - 2006 Jul
TI  - A new recurrent 9q34 duplication in pediatric T-cell acute lymphoblastic 
      leukemia.
PG  - 1245-53
AB  - Over the last decade, genetic characterization of T-cell acute lymphoblastic 
      leukemia (T-ALL) has led to the identification of a variety of chromosomal 
      abnormalities. In this study, we used array-comparative genome hybridization 
      (array-CGH) and identified a novel recurrent 9q34 amplification in 33% (12/36) of 
      pediatric T-ALL samples, which is therefore one of the most frequent cytogenetic 
      abnormalities observed in T-ALL thus far. The exact size of the amplified region 
      differed among patients, but the critical region encloses approximately 4 Mb and 
      includes NOTCH1. The 9q34 amplification may lead to elevated expression of 
      various genes, and MRLP41, SSNA1 and PHPT1 were found significantly expressed at 
      higher levels. Fluorescence in situ hybridization (FISH) analysis revealed that 
      this 9q34 amplification was in fact a 9q34 duplication on one chromosome and 
      could be identified in 17-39 percent of leukemic cells at diagnosis. Although 
      this leukemic subclone did not predict for poor outcome, leukemic cells carrying 
      this duplication were still present at relapse, indicating that these cells 
      survived chemotherapeutic treatment. Episomal NUP214-ABL1 amplification and 
      activating mutations in NOTCH1, two other recently identified 9q34 abnormalities 
      in T-ALL, were also detected in our patient cohort. We showed that both of these 
      genetic abnormalities occur independently from this newly identified 9q34 
      duplication.
FAU - van Vlierberghe, P
AU  - van Vlierberghe P
AD  - Erasmus MC/Sophia Children's Hospital, Department of Pediatric 
      Oncology/Hematology, Rotterdam, The Netherlands.
FAU - Meijerink, J P P
AU  - Meijerink JP
FAU - Lee, C
AU  - Lee C
FAU - Ferrando, A A
AU  - Ferrando AA
FAU - Look, A T
AU  - Look AT
FAU - van Wering, E R
AU  - van Wering ER
FAU - Beverloo, H B
AU  - Beverloo HB
FAU - Aster, J C
AU  - Aster JC
FAU - Pieters, R
AU  - Pieters R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060504
PL  - England
TA  - Leukemia
JT  - Leukemia
JID - 8704895
RN  - 0 (NOTCH1 protein, human)
RN  - 0 (NUP214-ABL1 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Receptor, Notch1)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Leukemia-Lymphoma, Adult T-Cell/*genetics
MH  - Male
MH  - Oncogene Proteins, Fusion/genetics
MH  - Predictive Value of Tests
MH  - Receptor, Notch1/genetics
MH  - Recurrence
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2006/05/05 09:00
MHDA- 2007/09/27 09:00
CRDT- 2006/05/05 09:00
PHST- 2006/05/05 09:00 [pubmed]
PHST- 2007/09/27 09:00 [medline]
PHST- 2006/05/05 09:00 [entrez]
AID - 2404247 [pii]
AID - 10.1038/sj.leu.2404247 [doi]
PST - ppublish
SO  - Leukemia. 2006 Jul;20(7):1245-53. doi: 10.1038/sj.leu.2404247. Epub 2006 May 4.