Whole-exon sequencing insights into pancreatic synovial sarcoma: a case report

Qijiang Mao, Haoqi Pan, Boqiang Liu, Mei Jin, Guoxiang Fu, Huijiang Shao, Xiaoxiao Fan, Yuelong Liang
2021 Gland surgery  
More than 30 cases of synovial sarcoma are sequenced on all organs of cBioPortal database, but it has not yet been reported before. Here, we reported a case of a 66-year-old male patient with an upper abdominal pain for half a month and a previous history of oral cancer. During this hospitalization, the patient underwent laparoscopic exploration followed by open pancreaticoduodenectomy. The histopathological diagnosis was pancreatic synovial sarcoma (PSS), and we further performed whole exome
more » ... quencing for this patient. We found that there are many copy number variations (CNV) of exon gene in all the 24 chromosomes, of which chr1, chr2, chr4 have the most exon gene amplification and chr21, chr22, chrY have the most exon gene deletion. Besides, GO (Gene Ontology) analysis showed that many driver-genes are related to chromosome or chromatin organization while KEGG (Kyoto Encyclopedia of Genes and Genomes) analysis demonstrated that many driver-genes are enriched in the cancer-related pathways. Furthermore, we found mutations or CNV of the five vital driver-genes in the results of sequencing, including arid1a, arid1b, tp53, cdkn2a and asxl1. Of them, arid1a and arid1b in exon 1 are both in-frame mutations. By exploring the pathogenic genes of PSS, we have found some vital gene mutations and better understood the pathogenesis to promote the targeted treatment of primary PSS.
doi:10.21037/gs-20-680 pmid:34164326 pmcid:PMC8184378 fatcat:jojqytfgvbg3tpudlbjjjpduva