Osteosarcoma, chondrosarcoma and Ewing sarcoma: Clinical aspects, biomarker discovery and liquid biopsy

2021 ◽  
Vol 162 ◽  
pp. 103340
Author(s):  
Veronica Aran ◽  
Sylvie Devalle ◽  
Walter Meohas ◽  
Manoela Heringer ◽  
Anabela Cunha Caruso ◽  
...  
2020 ◽  
Vol 26 (42) ◽  
pp. 7655-7671 ◽  
Author(s):  
Jinfeng Zou ◽  
Edwin Wang

Background: Precision medicine puts forward customized healthcare for cancer patients. An important way to accomplish this task is to stratify patients into those who may respond to a treatment and those who may not. For this purpose, diagnostic and prognostic biomarkers have been pursued. Objective: This review focuses on novel approaches and concepts of exploring biomarker discovery under the circumstances that technologies are developed, and data are accumulated for precision medicine. Results: The traditional mechanism-driven functional biomarkers have the advantage of actionable insights, while data-driven computational biomarkers can fulfill more needs, especially with tremendous data on the molecules of different layers (e.g. genetic mutation, mRNA, protein etc.) which are accumulated based on a plenty of technologies. Besides, the technology-driven liquid biopsy biomarker is very promising to improve patients’ survival. The developments of biomarker discovery on these aspects are promoting the understanding of cancer, helping the stratification of patients and improving patients’ survival. Conclusion: Current developments on mechanisms-, data- and technology-driven biomarker discovery are achieving the aim of precision medicine and promoting the clinical application of biomarkers. Meanwhile, the complexity of cancer requires more effective biomarkers, which could be accomplished by a comprehensive integration of multiple types of biomarkers together with a deep understanding of cancer.


Lab on a Chip ◽  
2018 ◽  
Vol 18 (24) ◽  
pp. 3790-3801 ◽  
Author(s):  
Peng Zhang ◽  
Jennifer Crow ◽  
Divya Lella ◽  
Xin Zhou ◽  
Glenson Samuel ◽  
...  

A microwell-patterned microfluidic digital mRNA analysis platform enables PCR-free, single-molecule detection of EWS-FLI1 fusion transcripts in EVs towards liquid biopsy-based non-invasive diagnosis of Ewing Sarcoma.


2018 ◽  
Vol Volume 10 ◽  
pp. 49-60 ◽  
Author(s):  
Stefania Benini ◽  
Gabriella Gamberi ◽  
Stefania Cocchi ◽  
Jessica Garbetta ◽  
Laurent Alberti ◽  
...  

Sarcoma ◽  
2019 ◽  
Vol 2019 ◽  
pp. 1-12 ◽  
Author(s):  
Beata Bode-Lesniewska ◽  
Christine Fritz ◽  
Gerhard Ulrich Exner ◽  
Ulrich Wagner ◽  
Bruno Fuchs

The spectrum of mesenchymal tumors associated with rearrangements of the EWSR1 gene has been growing in recent years due to progress in molecular detection techniques. Originally identified as the gene involved in the pathogenesis of Ewing sarcoma, the EWSR1 gene is now known to be rearranged in diverse clinical and histopathological entities. The NFATC2 gene is one of the many translocation partners of EWSR1 in gene fusions in a morphologically typical, albeit rare, subgroup of mesenchymal tumors. Little is known about the clinical characteristics of tumors containing NFATC2 gene rearrangements since most of the few reports published describe molecular rather than clinical aspects. In the current study, we report three patients with tumors carrying the EWSR1-NFATC2 gene translocation, including one rare primary tumor of soft tissues. Another patient with a benign-appearing bone tumor with a unique FUS-NFATC2 gene translocation is described. In various mesenchymal tumors (e.g., myxoid/round cell liposarcoma, low-grade fibromyxoid sarcoma, or angiomatoid fibrous histiocytoma), the FUS gene, as a member of the TET family, may be alternatively rearranged instead of the EWSR1 gene without any noticeable influence on the microscopical appearance or clinical outcome. This fact seems not to apply to mesenchymal tumors with the involvement of the NFATC2 gene because both in our experience and according to the extensive literature review, they have different properties on the morphological and molecular level. Both ESWSR1-NFATC2 and FUS-NFATC2 fusion-carrying tumors do not show microscopical or clinical features of Ewing sarcoma.


2019 ◽  
Vol 39 (1) ◽  
pp. 12 ◽  
Author(s):  
Chang Zeng ◽  
Emily Kunce Stroup ◽  
Zhou Zhang ◽  
Brian C.-H. Chiu ◽  
Wei Zhang

Cancers ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 3092
Author(s):  
Emanuela Palmerini ◽  
Alberto Righi ◽  
Eric L. Staals

Rare primary malignant bone sarcomas (RPMBS), other than osteosarcoma, chondrosarcoma, chordoma, and Ewing sarcoma, account for about 5–10% of primary bone tumors and represent a major diagnostic challenge. These tumors include spindle cell and round cell sarcoma entities, hemangiopericytoma-like and vascular tumors. Additionally, several histotypes, traditionally described in the soft tissues, such as myxofibrosarcoma, synovial sarcoma, and malignant peripheral nerve sheath tumor of bone, have been reported in patients with primary bone tumors. While wide surgical resection is the mainstay of local treatment, systemic therapy of these rare entities is controversial. Patients with undifferentiated spindle cell or pleomorphic high-grade tumors of bone, are usually treated with osteosarcoma-like chemotherapy, while patients with round cell and undifferentiated round cell tumors (URCTs), may respond to sarcoma treatment regimens for Ewing sarcoma patients. Studies on analogies and differences among these ultra-rare tumors have seldom been reported. This review describes relevance, clinical aspects, diagnostic procedures, staging, treatment recommendations, and current research in this composite tumor group.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Peter Peneder ◽  
Adrian M. Stütz ◽  
Didier Surdez ◽  
Manuela Krumbholz ◽  
Sabine Semper ◽  
...  

AbstractSequencing of cell-free DNA in the blood of cancer patients (liquid biopsy) provides attractive opportunities for early diagnosis, assessment of treatment response, and minimally invasive disease monitoring. To unlock liquid biopsy analysis for pediatric tumors with few genetic aberrations, we introduce an integrated genetic/epigenetic analysis method and demonstrate its utility on 241 deep whole-genome sequencing profiles of 95 patients with Ewing sarcoma and 31 patients with other pediatric sarcomas. Our method achieves sensitive detection and classification of circulating tumor DNA in peripheral blood independent of any genetic alterations. Moreover, we benchmark different metrics for cell-free DNA fragmentation analysis, and we introduce the LIQUORICE algorithm for detecting circulating tumor DNA based on cancer-specific chromatin signatures. Finally, we combine several fragmentation-based metrics into an integrated machine learning classifier for liquid biopsy analysis that exploits widespread epigenetic deregulation and is tailored to cancers with low mutation rates. Clinical associations highlight the potential value of cfDNA fragmentation patterns as prognostic biomarkers in Ewing sarcoma. In summary, our study provides a comprehensive analysis of circulating tumor DNA beyond recurrent genetic aberrations, and it renders the benefits of liquid biopsy more readily accessible for childhood cancers.


2018 ◽  
Vol 2 (4) ◽  
pp. 117-128
Author(s):  
Antonio Marlos Duarte de Melo ◽  
Messias Silvano Da Silva Filho ◽  
Bárbara Torquato Alves ◽  
Kevellyn Cruz Aguilera ◽  
Ana Maria Correia Alencar ◽  
...  

Studies on the biology of cancer are multiplying and have been giving significant repercussions on the care of cancer patients, and there is a growing need to evaluate the biology of the tumor. Conventional tissue biopsies currently represent the gold standard in the diagnosis of cancer, but they are not suitable for serial analysis because of the need for invasive procedures, besides being able to present a high risk of life and also impossibility of reaching surgical in some tumors. To solve this obstacle, the use of the Liquid Biopsy, which analyzes the presence of biomarkers released by cancer cells, such as circulating tumor cells (CTCs), tumor cell DNA (ctDNA) and exosomes is being discussed. These techniques are non-invasive or minimally invasive and collect their samples from peripheral blood, plasma and serum, urine, saliva and cerebrospinal fluid (CSF). As they are already being used in the treatment of several histopathological types of cancer, these new techniques generally represent a revolution in the understanding of early diagnosis, choice of personalized treatment, follow-up of the treatment response in real time, detection of minimal residual disease and prognosis for malignant neoplasms. The objective of this study was to present a literature review to clarify the fundamental molecular and clinical aspects involved in this revolutionary diagnostic technique by extracting the data from the sample. Keywords: Liquid Biopsy. Oncology.: literature review


2018 ◽  
Vol 201 ◽  
pp. 136-153 ◽  
Author(s):  
Peng Zhang ◽  
Glenson Samuel ◽  
Jennifer Crow ◽  
Andrew K. Godwin ◽  
Yong Zeng

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