PMID- 36593014
OWN - NLM
STAT- MEDLINE
DCOM- 20230104
LR  - 20230128
IS  - 1791-7549 (Electronic)
IS  - 0258-851X (Print)
IS  - 0258-851X (Linking)
VI  - 37
IP  - 1
DP  - 2023 Jan-Feb
TI  - Chromosome Translocation t(10;19)(q26;q13) in a CIC-sarcoma.
PG  - 57-69
LID - 10.21873/invivo.13054 [doi]
AB  - BACKGROUND/AIM: CIC-sarcomas are characterized by rearrangements of the capicua 
      transcriptional repressor (CIC) gene on chromosome subband 19q13.2, generating 
      chimeras in which CIC is the 5'-end partner. Most reported CIC-sarcomas have been 
      detected using PCR amplifications together with Sanger sequencing, high 
      throughput sequencing, and fluorescence in situ hybridization (FISH). Only a few 
      CIC-rearranged tumors have been characterized cytogenetically. Here, we describe 
      the cytogenetic and molecular genetic features of a CIC-sarcoma carrying a 
      t(10;19)(q26;q13), a chromosomal rearrangement not previously detected in such 
      neoplasms. MATERIALS AND METHODS: A round cell sarcoma removed from the right 
      thigh of a 57-year-old man was investigated by G-banding cytogenetics, FISH, PCR 
      and Sanger sequencing. RESULTS: The tumor cells had three cytogenetically related 
      clones with the translocations t(9;18)(q22;q21) and t(10;19)(q26;q13) common to 
      all of them. FISH with a BAC probe containing the CIC gene hybridized to the 
      normal chromosome 19, to der(10)t(10;19), and to der(19)t(10;19). PCR using tumor 
      cDNA as template together with Sanger sequencing detected two CIC::DUX4 fusion 
      transcripts which both had a stop TAG codon immediately after the fusion point. 
      Both transcripts are predicted to encode truncated CIC polypeptides lacking the 
      carboxy terminal part of the native protein. This missing part is crucial for 
      CIC's DNA binding capacity and interaction with other proteins. CONCLUSION: In 
      addition to demonstrating that CIC rearrangement in sarcomas can occur via the 
      microscopically visible translocation t(10;19)(q26;q13), the findings in the 
      present case provide evidence that the missing part in CIC-truncated proteins has 
      important functions whose loss may be important in tumorigenesis.
CI  - Copyright (c) 2023, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - Panagopoulos, Ioannis
AU  - Panagopoulos I
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; 
      ioannis.panagopoulos@rr-research.no.
FAU - Andersen, Kristin
AU  - Andersen K
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Gorunova, Ludmila
AU  - Gorunova L
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Hognestad, Hanne Regine
AU  - Hognestad HR
AD  - Department of Pathology, Oslo University Hospital, Oslo, Norway.
FAU - Pedersen, Thomas Dahl
AU  - Pedersen TD
AD  - Department of Pathology, Oslo University Hospital, Oslo, Norway.
FAU - Lobmaier, Ingvild
AU  - Lobmaier I
AD  - Department of Pathology, Oslo University Hospital, Oslo, Norway.
FAU - Micci, Francesca
AU  - Micci F
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Heim, Sverre
AU  - Heim S
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Greece
TA  - In Vivo
JT  - In vivo (Athens, Greece)
JID - 8806809
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Humans
MH  - Translocation, Genetic
MH  - In Situ Hybridization, Fluorescence
MH  - Oncogene Proteins, Fusion/genetics
MH  - *Sarcoma/pathology
MH  - *Soft Tissue Neoplasms/pathology
MH  - Biomarkers, Tumor/genetics
PMC - PMC9843759
OTO - NOTNLM
OT  - CIC rearrangement
OT  - CIC-sarcoma
OT  - CIC::DUX4 fusion
OT  - chromosome translocation
OT  - proline rich region
OT  - t(10;19)(q26;q13)
OT  - truncated CIC protein
COIS- The Authors declare that they have no potential conflicts of interest.
EDAT- 2023/01/03 06:00
MHDA- 2023/01/05 06:00
PMCR- 2023/01/03
CRDT- 2023/01/02 20:43
PHST- 2022/10/17 00:00 [received]
PHST- 2022/11/05 00:00 [revised]
PHST- 2022/11/10 00:00 [accepted]
PHST- 2023/01/02 20:43 [entrez]
PHST- 2023/01/03 06:00 [pubmed]
PHST- 2023/01/05 06:00 [medline]
PHST- 2023/01/03 00:00 [pmc-release]
AID - 37/1/57 [pii]
AID - 10.21873/invivo.13054 [doi]
PST - ppublish
SO  - In Vivo. 2023 Jan-Feb;37(1):57-69. doi: 10.21873/invivo.13054.