Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway;
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Cancer Genomics Proteomics. 2021 Nov-Dec;18(6):723-734. doi: 10.21873/cgp.20293.
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.
A rhabdomyo-sarcoma found in a 10-year-old girl was studied using a range of genetic methodologies.
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.
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.
背景/目的：已报道配对盒基因 3（PAX3 在 2q36）与不同伙伴融合存在于横纹肌肉瘤和双表型鼻内肉瘤中。在此，我们报告了肌间线蛋白（MYOCD 在 17p12）基因作为一种新的 PAX3 融合伙伴，存在于一种具有不良临床结局的儿科肿瘤中。
研究了一名 10 岁女孩的横纹肌肉瘤，使用了一系列遗传方法。
肿瘤细胞的核型为 48,XX,add(2)(q11),+del(2)(q35),add(3)(q?25),-7,del(8)(p21),-15,add(17)(p11),+20,+der(?);15(?;q15),+mar[8]/46,XX[2]。荧光原位杂交检测到 PAX3 重排，而阵列比较基因组杂交揭示了影响数百个基因的基因组不平衡，包括 MYCN、MYC、FOXO3 和肿瘤抑制基因 TP53。通过 RNA 测序发现了 PAX3-MYOCD 融合转录本，并通过 Sanger 测序进行了确认。
所研究的横纹肌肉瘤携带一种新的 PAX3-MYOCD 融合基因和广泛的其他异常，影响许多基因的等位基因平衡，其中包括 TP53 和 MYC 和 FOXO 转录因子家族的成员。
