PT - JOURNAL ARTICLE AU - IOANNIS PANAGOPOULOS AU - LUDMILA GORUNOVA AU - KRISTIN ANDERSEN AU - MARIUS LUND-IVERSEN AU - SVETLANA TAFJORD AU - FRANCESCA MICCI AU - SVERRE HEIM TI - Fusion of the Paired Box 3 (<em>PAX3</em>) and Myocardin (<em>MYOCD</em>) Genes in Pediatric Rhabdomyosarcoma AID - 10.21873/cgp.20293 DP - 2021 Nov 01 TA - Cancer Genomics - Proteomics PG - 723--734 VI - 18 IP - 6 4099 - http://cgp.iiarjournals.org/content/18/6/723.short 4100 - http://cgp.iiarjournals.org/content/18/6/723.full SO - Cancer Genomics Proteomics2021 Nov 01; 18 AB - Background/Aim: Fusions of the paired box 3 gene (PAX3 in 2q36) with different partners have been reported in rhabdomyosarcomas and biphenotypic sinonasal sarcomas. We herein report the myocardin (MYOCD on 17p12) gene as a novel PAX3-fusion partner in a pediatric tumor with adverse clinical outcome. Materials and Methods: A rhabdomyo-sarcoma found in a 10-year-old girl was studied using a range of genetic methodologies. Results: The karyotype of the tumor cells was 48,XX,add(2)(q11),+del(2)(q35),add(3)(q?25),−7, del(8)(p 21),−15, add(17)(p 11), + 20, +der(?) t(?; 15) (?;q15),+mar[8]/46,XX[2]. Fluorescence in situ hybridization detected PAX3 rearrangement whereas array comparative genomic hybridization revealed genomic imbalances affecting hundreds of genes, including MYCN, MYC, FOXO3, and the tumor suppressor gene TP53. A PAX3-MYOCD fusion transcript was found by RNA sequencing and confirmed by Sanger sequencing. Conclusion: The investigated rhabdomyosarcoma carried a novel PAX3-MYOCD fusion gene and extensive additional aberrations affecting the allelic balance of many genes, among them TP53 and members of MYC and FOXO families of transcription factors.