PMID- 20633768
OWN - NLM
STAT- MEDLINE
DCOM- 20100729
LR  - 20171116
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 201
IP  - 1
DP  - 2010 Aug
TI  - Complex rearrangement of chromosomes 1, 7, 21, 22 in Ewing sarcoma.
PG  - 42-7
LID - 10.1016/j.cancergencyto.2010.04.021 [doi]
AB  - The Ewing sarcoma (ES) family of tumors is characterized by nonrandom chromosomal 
      translocations involving the EWSR1 gene on chromosome 22 with one of the members 
      of the ETS family of transcription factors. The majority of ES tumors are 
      characterized by a balanced translocation t(11;22)(q24;q12), which results in the 
      fusion of the 5' portion of EWSR1 gene with the 3'end of the FLI1 gene. Fusions 
      with ERG, another member of the ETS family, occur in less than 10% of ES tumors, 
      and can arise through complex chromosomal rearrangements. Here, we report a case 
      of a 5-year-old female with an ES tumor in the thoracic region. G-banding and 
      spectral karyotyping analysis demonstrated 46,XX,t(1;21;7)(q25;q22.3;q22). 
      Metaphase fluorescence in situ hybridization (FISH) using the EWSR1 break-apart 
      probe demonstrated a normal signal on both apparently normal chromosomes 22, and 
      an additional EWSR1-5' signal on the derivative chromosome 21. 
      Reverse-transcriptase polymerase chain reaction analysis of RNA isolated from the 
      tumor demonstrated a EWSR1-ERG fusion transcript, fusing exon 7 of EWSR1 and exon 
      11 of ERG. These results are consistent with an additional copy of the 5' portion 
      of EWSR1, which inverted and then inserted on chromosome 21 and fused to the 3' 
      end of ERG. To our knowledge, this is the first report of a EWSR1-ERG fusion in 
      an ES tumor with an apparently duplicated 5' portion of EWSR1, and with a complex 
      translocation involving chromosomes 1, 7, and 21. This case adds to the spectrum 
      of genetic rearrangements identified in ES tumors.
CI  - Copyright (c) 2010 Elsevier Inc. All rights reserved.
FAU - Jinawath, Natini
AU  - Jinawath N
AD  - Institute of Genetic Medicine, Johns Hopkins Medical Institutions, 600 North 
      Wolfe Street, Baltimore, MD 21287, USA.
FAU - Morsberger, Laura
AU  - Morsberger L
FAU - Norris-Kirby, Alexis
AU  - Norris-Kirby A
FAU - Williams, Lisa M
AU  - Williams LM
FAU - Yonescu, Raluca
AU  - Yonescu R
FAU - Argani, Pedram
AU  - Argani P
FAU - Griffin, Constance A
AU  - Griffin CA
FAU - Murphy, Kathleen M
AU  - Murphy KM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
SB  - IM
MH  - Base Sequence
MH  - Calmodulin-Binding Proteins/genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human
MH  - DNA Primers
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Ewing/*genetics
MH  - Spectral Karyotyping
MH  - Translocation, Genetic
EDAT- 2010/07/17 06:00
MHDA- 2010/07/30 06:00
CRDT- 2010/07/17 06:00
PHST- 2009/12/04 00:00 [received]
PHST- 2010/04/19 00:00 [revised]
PHST- 2010/04/21 00:00 [accepted]
PHST- 2010/07/17 06:00 [entrez]
PHST- 2010/07/17 06:00 [pubmed]
PHST- 2010/07/30 06:00 [medline]
AID - S0165-4608(10)00191-3 [pii]
AID - 10.1016/j.cancergencyto.2010.04.021 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2010 Aug;201(1):42-7. doi: 
      10.1016/j.cancergencyto.2010.04.021.