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Fusion of the Paired Box 3 (PAX3) and Myocardin (MYOCD) Genes in Pediatric Rhabdomyosarcoma
- Publication Year :
- 2021
-
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.
- Subjects :
- Sanger sequencing
Cancer Research
Tumor suppressor gene
medicine.diagnostic_test
PAX3
Biology
Biochemistry
Molecular biology
Fusion gene
symbols.namesake
Fusion transcript
Myocardin
embryonic structures
Genetics
symbols
medicine
Molecular Biology
Fluorescence in situ hybridization
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 11096535
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....bdd207be967afa16ea2b6b541462eb3a