@article {PANAGOPOULOS723, author = {IOANNIS PANAGOPOULOS and LUDMILA GORUNOVA and KRISTIN ANDERSEN and MARIUS LUND-IVERSEN and SVETLANA TAFJORD and FRANCESCA MICCI and SVERRE HEIM}, title = {Fusion of the Paired Box 3 (PAX3) and Myocardin (MYOCD) Genes in Pediatric Rhabdomyosarcoma}, volume = {18}, number = {6}, pages = {723--734}, year = {2021}, doi = {10.21873/cgp.20293}, publisher = {International Institute of Anticancer Research}, abstract = {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.}, issn = {1109-6535}, URL = {https://cgp.iiarjournals.org/content/18/6/723}, eprint = {https://cgp.iiarjournals.org/content/18/6/723.full.pdf}, journal = {Cancer Genomics \& Proteomics} }