Release of circulating tumor cells and cell-free nucleic acids is an infrequent event in synovial sarcoma: Liquid biopsy analysis of 15 patients diagnosed with synovial sarcoma

Dóra Mihály, Noémi Nagy, Gergõ Papp, Zsuzsanna Pápai, Z. Sápi

Research output: Article

2 Citations (Scopus)

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.

Original languageEnglish
Article number81
JournalDiagnostic Pathology
Volume13
Issue number1
DOIs
Publication statusPublished - okt. 17 2018

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Synovial Sarcoma
Circulating Neoplastic Cells
Nucleic Acids
Biopsy
Polymerase Chain Reaction
Gene Fusion
Myxoid Liposarcoma
Neoplasms
Ewing's Sarcoma
MicroRNAs
Molecular Biology
Stomach
Radiotherapy
Biomarkers
Recurrence
Drug Therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

Cite this

@article{d75caaaf9b72463f9667f1e347173b01,
title = "Release of circulating tumor cells and cell-free nucleic acids is an infrequent event in synovial sarcoma: Liquid biopsy analysis of 15 patients diagnosed with synovial sarcoma",
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 = "Droplet digital PCR, Liquid biopsy, Nested PCR, SS18-SSX fusion transcript, Synovial sarcoma",
author = "D{\'o}ra Mih{\'a}ly and No{\'e}mi Nagy and Gerg{\~o} Papp and Zsuzsanna P{\'a}pai and Z. S{\'a}pi",
year = "2018",
month = "10",
day = "17",
doi = "10.1186/s13000-018-0756-2",
language = "English",
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journal = "Diagnostic Pathology",
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T1 - Release of circulating tumor cells and cell-free nucleic acids is an infrequent event in synovial sarcoma

T2 - Liquid biopsy analysis of 15 patients diagnosed with synovial sarcoma

AU - Mihály, Dóra

AU - Nagy, Noémi

AU - Papp, Gergõ

AU - Pápai, Zsuzsanna

AU - Sápi, Z.

PY - 2018/10/17

Y1 - 2018/10/17

N2 - 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.

AB - 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.

KW - Droplet digital PCR

KW - Liquid biopsy

KW - Nested PCR

KW - SS18-SSX fusion transcript

KW - Synovial sarcoma

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