TY - JOUR T1 - An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to <em>ACTB-GLI1</em> Fusion in Pericytoma JF - Anticancer Research JO - Anticancer Res SP - 1239 LP - 1245 DO - 10.21873/anticanres.14065 VL - 40 IS - 3 AU - IOANNIS PANAGOPOULOS AU - LUDMILA GORUNOVA AU - TOR VIKAN RISE AU - KRISTIN ANDERSEN AU - FRANCESCA MICCI AU - SVERRE HEIM Y1 - 2020/03/01 UR - http://ar.iiarjournals.org/content/40/3/1239.abstract N2 - Background/Aim: Since the first description of five pericytomas with the t(7;12)/ACTB-GLI1 fusion gene, only three new tumors were studied by both cytogenetics and molecular techniques. We report here genetic data on another case of this rare tumor. Materials and Methods: Cytogenetic, fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed. Results: The pericytoma carried two structurally rearranged chromosomes: der(7)t(7;12)(p22;q13) and der(12)t(1;12)(q12;q13). In FISH experiments with a break-apart probe for GLI1, the distal part of the probe hybridized to der(7) whereas the proximal part to der(12). RT-PCR and Sanger sequencing detected an ACTB-GLI1 fragment in which exon 2 of ACTB was fused to exon 6 of GLI1. Conclusion: The ACTB-GLI1 fusion gene was mapped at der(7)t(7;12)(p22;q13) and coded for a putative ACTB-GLI1 protein in which the first 41 amino acid (aa) of ACTB replaced the first 177 aa of GLI1. ER -