Detection of various fusion genes by one-step RT-PCR and the association with clinicopathological features in 242 cases of soft tissue tumor

Introduction: Over the past decades, an increasing number of chromosomal translocations have been found in different STSs, which not only has value for clinical diagnosis but also suggests pathogenesis STS. Fusion genes can be detected by FISH, RT-PCR, and next-generation sequencing. One-step RT-PCR is a convenient method to detect fusion with higher sensitivity lower cost. Method: In this study, 242 cases soft tissue tumors were included, one-step multicenter seven types tumors: rhabdomyosarcoma (RMS), peripheral primitive neuroectodermal tumor (pPNET), synovial sarcoma (SS), myxoid liposarcomas (MLPS), alveolar part (ASPS), dermatofibrosarcoma protuberans (DFSP), angiofibroma (AFST). 18 further tested FISH. One case novel gene RNA-sequencing was validated RT-PCR. Results: The total positive rate 60% (133/213) samples 29 could evaluated because poor RNA quality. PAX3–FOXO1 88.6% (31/35) rhabdomyosarcoma, EWSR1–FLI1 63% (17/27) pPNET, SYT–SSX 95.4% SS (62/65), ASPSCR1–TFE3 100% ASPS (10/10), FUS–DDIT3 80% MLPS (4/5), COL1A1–PDGFB 66.7% DFSP (8/12). For clinicopathological parameters, status correlated age location 213 cases. lymph node metastasis distant RMS. Furthermore, RMS patients had significantly shorter overall survival time than those negative gene. Among them, FISH result concordant As as most common AHRR–NCOA2 one AFST used determine genes, PTCH1–PLAG1 found. Moreover, confirmed Conclusion: Our study indicates that displays reliable tool advantage high accuracy low it great identify genes. Overall, provides useful information molecular pathological improves STSs.