PMID- 19837261
OWN - NLM
STAT- MEDLINE
DCOM- 20091112
LR  - 20190816
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 195
IP  - 1
DP  - 2009 Nov
TI  - Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a 
      recurrent CIC-DUX4 fusion gene event.
PG  - 1-11
LID - 10.1016/j.cancergencyto.2009.06.015 [doi]
AB  - Pediatric undifferentiated soft tissue sarcomas (USTS) are a diagnostically 
      challenging group of neoplasms. Recently, a subcategory of USTS with primitive 
      round cell morphology and a t(4;19)(q35;q13) rearrangement has been defined. The 
      present study applied high-throughput array comparative genomic hybridization 
      together with spectral karyotyping, four-color fluorescence in situ hybridization 
      (FISH), and reverse transcriptase-polymerase chain reaction (RT-PCR) to a series 
      of three pediatric USTS. Two of these had primitive round cell morphology with 
      CD99 positivity; the third had a spindled and myxoid appearance. By genomic 
      analyses, both primitive round cell sarcomas had t(4;19)(q35;q13) [corrected] 
      rearrangements in addition to several imbalances throughout the genome. 
      Four-color FISH and in silico analyses of the breakpoint region at 19q13 
      identified the potential involvement of the candidate oncogene CIC. By RT-PCR, 
      fusion transcripts involving CIC (19q13) and DUX4 (4q35) were confirmed to be 
      present in both primitive round cell sarcomas, further defining the breakpoints 
      seen by genomic analysis. Described here are two tumors belonging to the rare 
      category of CIC-DUX4-positive primitive sarcomas, with detailed cytogenetic and 
      genomic information regarding this novel subclass of pediatric malignancy. 
      Molecular and cytogenetic techniques for the detection of the CIC-DUX4 fusion 
      gene are described, to aid in recognition and diagnosis.
FAU - Yoshimoto, Maisa
AU  - Yoshimoto M
AD  - Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, 
      Canada.
FAU - Graham, Cassandra
AU  - Graham C
FAU - Chilton-MacNeill, Susan
AU  - Chilton-MacNeill S
FAU - Lee, Eric
AU  - Lee E
FAU - Shago, Mary
AU  - Shago M
FAU - Squire, Jeremy
AU  - Squire J
FAU - Zielenska, Maria
AU  - Zielenska M
FAU - Somers, Gino R
AU  - Somers GR
LA  - eng
GR  - MOP86462/Canadian Institutes of Health Research/Canada
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (CIC protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (DUX4L1 protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Repressor Proteins)
SB  - IM
EIN - Cancer Genet Cytogenet. 2010 Feb;197(1):99
MH  - Adolescent
MH  - Child
MH  - Chromosomes, Human, Pair 19
MH  - Cytogenetic Analysis
MH  - DNA-Binding Proteins
MH  - Female
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Repressor Proteins/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma/diagnosis/*genetics/pathology
MH  - Spectral Karyotyping
MH  - Tissue Array Analysis
EDAT- 2009/10/20 06:00
MHDA- 2009/11/13 06:00
CRDT- 2009/10/20 06:00
PHST- 2009/06/01 00:00 [received]
PHST- 2009/06/17 00:00 [accepted]
PHST- 2009/10/20 06:00 [entrez]
PHST- 2009/10/20 06:00 [pubmed]
PHST- 2009/11/13 06:00 [medline]
AID - S0165-4608(09)00328-8 [pii]
AID - 10.1016/j.cancergencyto.2009.06.015 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2009 Nov;195(1):1-11. doi: 
      10.1016/j.cancergencyto.2009.06.015.