Ioannis Panagopoulos1, Ludmila Gorunova2, Kristin Andersen2, Marius Lund-Iversen3, Svetlana Tafjord3, Francesca Micci2, Sverre Heim2,4. 1. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; ioannis.panagopoulos@rr-research.no. 2. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 3. Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 4. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
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. Copyright
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. Copyright
Authors: Charles Walther; Markus Mayrhofer; Jenny Nilsson; Jakob Hofvander; Tord Jonson; Nils Mandahl; Ingrid Øra; David Gisselsson; Fredrik Mertens Journal: Genes Chromosomes Cancer Date: 2015-10-20 Impact factor: 5.006
Authors: H Yoshida; M Miyachi; K Sakamoto; K Ouchi; S Yagyu; K Kikuchi; Y Kuwahara; K Tsuchiya; T Imamura; T Iehara; N Kakazu; H Hojo; H Hosoi Journal: Oncogene Date: 2013-11-11 Impact factor: 9.867
Authors: Janos Sumegi; Renae Streblow; Robert W Frayer; Paola Dal Cin; Andrew Rosenberg; Aurelia Meloni-Ehrig; Julia A Bridge Journal: Genes Chromosomes Cancer Date: 2010-03 Impact factor: 5.006
Authors: Karen J Fritchie; Long Jin; Xiaoke Wang; Rondell P Graham; Michael S Torbenson; Jean E Lewis; Michael Rivera; Joaquin J Garcia; David J Schembri-Wismayer; Jennifer J Westendorf; Margaret M Chou; Jie Dong; Andre M Oliveira Journal: Histopathology Date: 2016-09-23 Impact factor: 5.087