Detection of SS18-SSX1/2 fusion transcripts in circulating tumor cells of patients with synovial sarcoma

Przybył, Joanna; Rijn, Matt van de; Rutkowski, Piotr

doi:10.1186/s13000-019-0800-x

Cited by 12 publications

(8 citation statements)

References 6 publications

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“…These results confirm previously published data that quantification method by droplet digital PCR shows 10-fold greater sensitivity compared with RT-qPCR [57]. In agreement with the aforementioned report, a larger study by Przybyl et al incorporated 38 patients with synovial sarcoma and revealed that nested RT-PCR had a 5.3% sensitivity and 100% specificity in detection of SS18-SSX1/2 fusion transcript [28]. Another previously conducted study also by Przybyl et al had already shown that only 9% (3/34) of patients diagnosed with SS had measurable circulating tumor cells in their blood.…”

Section: Synovial Sarcoma (Ss)supporting

confidence: 92%

Liquid Biopsy: A New Translational Diagnostic and Monitoring Tool for Musculoskeletal Tumors

Hadjimichael

Pergaris

Kaspiris

et al. 2021

IJMS

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Soft tissue and bone sarcomas represent a group of aggressive neoplasms often accompanied by dismal patient prognosis, especially when distant metastases are present. Moreover, effective treatment can pose a challenge, as recurrences are frequent and almost half of patients present with advanced disease. Researchers have unveiled the molecular abnormalities implicated in sarcomas’ carcinogenesis, paving the way for novel treatment strategies based on each individual tumor’s characteristics. Therefore, the development of new techniques aiding in early disease detection and tumor molecular profiling is imperative. Liquid biopsy refers to the sampling and analysis of patients’ fluids, such as blood, to identify tumor biomarkers, through a variety of methods, including qRT-PCR, qPCR, droplet digital PCR, magnetic microbeads and digital PCR. Assessment of circulating tumor cells (CTCs), circulating free DNA (ctDNA), micro RNAs (miRs), long non-coding RNAs (lncRNAs), exosomes and exosome–associated proteins can yield a plethora of information on tumor molecular signature, histologic type and disease stage. In addition, the minimal invasiveness of the procedure renders possible its wide application in the clinical setting, and, therefore, the early detection of the presence of tumors. In this review of the literature, we gathered information on biomarkers assessed through liquid biopsy in soft tissue and bone sarcoma patients and we present the information they can yield for each individual tumor type.

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Section: Synovial Sarcoma (Ss)supporting

confidence: 92%

Liquid Biopsy: A New Translational Diagnostic and Monitoring Tool for Musculoskeletal Tumors

Hadjimichael

Pergaris

Kaspiris

et al. 2021

IJMS

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“…Despite the absence of specific markers, various methods of cell isolation based on physical specificity (e.g., higher size and higher cell deformability of tumor cells) or biological properties (e.g., immunomagnetic isolation) have been proposed with success (Gabriel et al , 2016; Hayashi et al , 2017; Li et al , 2017). CTCs are detectable in bone sarcomas (Chinen et al , 2014; Benini et al , 2018) and STS patients (Braun et al , 2018; Mihály et al , 2018; Przybyl et al , 2019). To improve the sensitivity and specificity of detection and isolation of CTCs across sarcoma subtypes, investigators have been looking for universal sarcoma markers (Satelli et al , 2014; Li et al , 2018).…”

Section: Epidemiology Of Sarcomamentioning

confidence: 99%

Sarcoma treatment in the era of molecular medicine

et al. 2020

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Sarcomas are heterogeneous and clinically challenging soft tissue and bone cancers. Although constituting only 1% of all human malignancies, sarcomas represent the second most common type of solid tumors in children and adolescents and comprise an important group of secondary malignancies. More than 100 histological subtypes have been characterized to date, and many more are being discovered due to molecular profiling. Owing to their mostly aggressive biological behavior, relative rarity, and occurrence at virtually every anatomical site, many sarcoma subtypes are in particular difficult‐to‐treat categories. Current multimodal treatment concepts combine surgery, polychemotherapy (with/without local hyperthermia), irradiation, immunotherapy, and/or targeted therapeutics. Recent scientific advancements have enabled a more precise molecular characterization of sarcoma subtypes and revealed novel therapeutic targets and prognostic/predictive biomarkers. This review aims at providing a comprehensive overview of the latest advances in the molecular biology of sarcomas and their effects on clinical oncology; it is meant for a broad readership ranging from novices to experts in the field of sarcoma.

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“…SS18 was related to transcriptional misregulation in cancer and chromatin regulation (de Bruijn et al, 2006). This gene has been reported highly expressed in various kinds of malignant tumors (de Bruijn et al, 2006;Isfort et al, 2019;Przybyl et al, 2019). However, the roles of SS18 in breast cancer have not been investigated.…”

Section: Discussionmentioning

confidence: 99%