TY - JOUR T1 - Chromosome Translocation t(10;19)(q26;q13) in a CIC-sarcoma JF - In Vivo JO - In Vivo SP - 57 LP - 69 DO - 10.21873/invivo.13054 VL - 37 IS - 1 AU - IOANNIS PANAGOPOULOS AU - KRISTIN ANDERSEN AU - LUDMILA GORUNOVA AU - HANNE REGINE HOGNESTAD AU - THOMAS DAHL PEDERSEN AU - INGVILD LOBMAIER AU - FRANCESCA MICCI AU - SVERRE HEIM Y1 - 2023/01/01 UR - http://iv.iiarjournals.org/content/37/1/57.abstract N2 - 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. ER -