PT - JOURNAL ARTICLE AU - IOANNIS PANAGOPOULOS AU - LUDMILA GORUNOVA AU - KRISTIN ANDERSEN AU - MARIUS LUND-IVERSEN AU - HANNE REGINE HOGNESTAD AU - INGVILD LOBMAIER AU - FRANCESCA MICCI AU - SVERRE HEIM TI - Chromosomal Translocation t(5;12)(p13;q14) Leading to Fusion of High-mobility Group AT-hook 2 Gene With Intergenic Sequences From Chromosome Sub-Band 5p13.2 in Benign Myoid Neoplasms of the Breast: A Second Case AID - 10.21873/cgp.20331 DP - 2022 Jul 01 TA - Cancer Genomics - Proteomics PG - 445--455 VI - 19 IP - 4 4099 - http://cgp.iiarjournals.org/content/19/4/445.short 4100 - http://cgp.iiarjournals.org/content/19/4/445.full SO - Cancer Genomics Proteomics2022 Jul 01; 19 AB - Background/Aim: Recently, we reported a myoid hamartoma carrying a t(5;12)(p13;q14) karyotypic aberration leading to fusion of the high-mobility group AT-hook 2 (HMGA2) gene with a sequence from chromosome sub-band 5p13.2. We describe here another benign myoid tumor of the breast with identical genetic aberrations. Materials and Methods: A mammary leiomyomatous tumor found in a 45-year-old woman was studied using cytogenetics, fluorescence in situ hybridization, RNA sequencing, reverse transcription-polymerase chain reaction and Sanger sequencing. Results: The karyotype of the tumor cells was 46,XX,t(5;12) (p13;q14)[14]. Fluorescence in situ hybridization showed rearrangement of HMGA2, RNA sequencing detected fusion of HMGA2 with a sequence from 5p13.2, whereupon reverse transcription-polymerase chain reaction together with Sanger sequencing verified the HMGA2-fusion transcript. The results were identical to those obtained by us previously in a myoid hamartoma of the breast. Conclusion: The translocation t(5;12)(p13;q14) and fusion of HMGA2 with sequences from sub-band 5p13.2 appear to be recurrent events in benign mammary myoid neoplasms.