PMID- 15899394
OWN - NLM
STAT- MEDLINE
DCOM- 20050705
LR  - 20171116
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 159
IP  - 2
DP  - 2005 Jun
TI  - Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), 
      ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with 
      Ewing sarcoma.
PG  - 177-80
AB  - Ewing sarcoma is the second most common malignant bone tumor in children and 
      young adults. Cytogenetic analysis to identify a common t(11;22)(q23;q12) or less 
      frequently a t(21;22)(q22;q12) or t(7;22)(p22;q12) plays an important role in the 
      confirmation of the clinical diagnosis. We report a case of a 10-year-old female 
      who had extraskeletal Ewing sarcoma. Conventional cytogenetic analysis revealed 
      that 11 out of 20 cells had a derivative chromosome 22, possibly due to an 
      insertion of the long arm of the 21q21 approximately q22. This finding was 
      confirmed by fluorescence in situ hybridization (FISH) utilizing whole chromosome 
      paint probes specific for chromosomes 21 and 22. Hybridization utilizing LSI 
      EWSR1, dual-color break-apart rearrangement probe unexpectedly revealed that the 
      3' EWSR1 gene was lost on the derivative chromosome 22. This finding suggests 
      that the insertion of chromosome 21 is another mechanism that could lead to 
      EWS-ERG gene fusion. To our knowledge, this is the first case report of an 
      insertion of a segment of 21q21 approximately q22 into the long arm of 21q12 with 
      a loss of a DNA segment around the breakpoint on the derivative chromosome 22 in 
      Ewing sarcoma.
FAU - Lee, Jiyun
AU  - Lee J
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104, USA.
FAU - Hopcus-Niccum, Deborah J
AU  - Hopcus-Niccum DJ
FAU - Mulvihill, John J
AU  - Mulvihill JJ
FAU - Li, Shibo
AU  - Li S
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 (EWSR1 protein, human)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
SB  - IM
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Child
MH  - Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/*genetics
MH  - Sarcoma, Ewing/*genetics
MH  - Thoracic Wall
MH  - Translocation, Genetic
EDAT- 2005/05/19 09:00
MHDA- 2005/07/06 09:00
CRDT- 2005/05/19 09:00
PHST- 2004/10/08 00:00 [received]
PHST- 2004/11/04 00:00 [revised]
PHST- 2004/11/05 00:00 [accepted]
PHST- 2005/05/19 09:00 [pubmed]
PHST- 2005/07/06 09:00 [medline]
PHST- 2005/05/19 09:00 [entrez]
AID - S0165-4608(04)00534-5 [pii]
AID - 10.1016/j.cancergencyto.2004.11.003 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2005 Jun;159(2):177-80. doi: 
      10.1016/j.cancergencyto.2004.11.003.