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Published on: February 23, 2011
Chromosome Translocation t(10;19)(q26;q13) in a CIC-sarcoma
Ioannis Panagopoulos1, Kristin Andersen2, Ludmila Gorunova2
1Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; ioannis.panagopoulos@rr-research.no.
This study identifies a novel chromosomal translocation, t(10;19)(q26;q13), in CIC-sarcomas, leading to CIC::DUX4 fusion transcripts. These fusions result in truncated CIC proteins, potentially driving tumor development.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- CIC-sarcomas are defined by rearrangements of the capicua transcriptional repressor (CIC) gene.
- Conventional detection methods include PCR, sequencing, and FISH.
- Cytogenetic characterization of CIC-rearranged tumors is infrequent.
Observation:
- A round cell sarcoma from a 57-year-old man was analyzed.
- G-banding cytogenetics, FISH, PCR, and Sanger sequencing were employed.
- Three related clones with translocations t(9;18) and t(10;19) were identified.
Findings:
- The t(10;19)(q26;q13) translocation was detected in the CIC-sarcoma.
- Two CIC::DUX4 fusion transcripts were identified via PCR and sequencing.
- These fusions predict truncated CIC proteins lacking crucial functional domains.
Implications:
- CIC gene rearrangements in sarcomas can occur through microscopically visible translocations like t(10;19).
- Loss of functional domains in truncated CIC proteins may play a significant role in tumorigenesis.
- This case expands the cytogenetic landscape of CIC-sarcomas.
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