Release of circulating tumor cells and cell-free nucleic acids is an infrequent event in synovial sarcoma: liquid biopsy
- PDF / 1,378,205 Bytes
- 7 Pages / 595.276 x 790.866 pts Page_size
- 55 Downloads / 158 Views
RESEARCH
Open Access
Release of circulating tumor cells and cellfree nucleic acids is an infrequent event in synovial sarcoma: liquid biopsy analysis of 15 patients diagnosed with synovial sarcoma Dóra Mihály1, Noémi Nagy1, Gergő Papp1, Zsuzsanna Pápai2 and Zoltán Sápi1*
Abstract Background: Synovial sarcoma is a rare soft tissue tumor which contains the unique SS18-SSX1, SS18-SSX2 – or, rarely, SS18-SSX4 - fusion transcripts. It is well known that some soft tissue tumors, like Ewing sarcomas and myxoid liposarcomas, can spread via the blood with free circulating tumor cells (CTC); this can be detected by several sensitive molecular biology methods. Here we report a study of fifteen synovial sarcoma patients with varied clinical backgrounds. Method: After blood withdrawal and nucleic acid isolation, we attempted to detect the SS18-SSX fusion genes from circulating tumor cells or cell-free nucleic acids with nested PCR and droplet digital PCR. Results: SS18-SSX2 fusion transcript was identified in a small copy number with droplet digital PCR in one case. Nested PCR could not detect any of the fusion transcripts in the examined 15 synovial sarcoma cases. Conclusions: Heretofore two case reports could detect CTCs in synovial sarcoma - in the first paper, the patient was diagnosed with poorly differentiated type while the other had a rare primary gastric synovial sarcoma. However, until now, no other studies have detected CTCs in the peripheral blood of synovial sarcoma patients. Based on our findings, we can conclude that detection of the chimeric SS18-SSX fusion gene after surgical excision and/or chemotherapy/radiotherapy is a rare circumstance and hence in itself is not sufficient for monitoring the tumor recurrence. Therefore, monitoring of other possible biomarkers - for example synovial sarcoma specific miRNAs - is recommended. Keywords: Liquid biopsy, Synovial sarcoma, SS18-SSX fusion transcript, Droplet digital PCR, Nested PCR
Background Synovial sarcoma (SS) constitutes the third most common malignant soft-tissue tumor group and usually affects teenagers and young adults [1, 2]. Despite the combined therapeutic effort (chemotherapy and/or radiotherapy and surgical excision), the recurrence of the tumor and metastasizing ability is high [3]. The characteristic and specific translocation t(X;18((p11.2q11.2)) * Correspondence: [email protected] 1 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői út 26, Budapest H-1085, Hungary Full list of author information is available at the end of the article
of human SS causes the fusion of the SS18 (also known as SYT) gene on chromosome 18 to SSX1, SSX2 or, rarely, SSX4 on chromosome X at Xp11.2, and contributes to the formation of SS18-SSX fusion transcripts, regardless of histologic subtype [4–7]. The function of the SS18-SSX chimeric protein and its relationship to tumor development remains unknown, as does the mechanism through which the translocation occurs [8]. The presence of the SS18-SSX fusion transcripts facilit
Data Loading...
