Advancements in bone malignancy research through next-generation sequencing focussed on osteosarcoma, chondrosarcoma, and Ewing sarcoma

IF 2.9 4区 医学 Q2 PATHOLOGY Pathology, research and practice Pub Date : 2025-03-12 DOI:10.1016/j.prp.2025.155908
Naveen Jeyaraman , Madhan Jeyaraman , Preethi Subramanian , Swaminathan Ramasubramanian , Sangeetha Balaji , Sathish Muthu , Ramya Lakshmi Rajendran , Prakash Gangadaran
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Abstract

Next-generation sequencing (NGS) technologies have revolutionized bone cancer research, enabling detailed insights into the genetic, transcriptional, and epigenetic layers of these malignancies. This overview discusses the pivotal role of NGS in enhancing the diagnosis, prognosis, and treatment of primary bone cancers such as osteosarcoma, chondrosarcoma, and Ewing sarcoma. By facilitating the identification of novel genetic mutations, gene fusions, and epigenetic alterations, NGS supports the development of personalized medicine approaches and targeted therapies, significantly impacting clinical outcomes. The utilization of various NGS platforms, including Illumina, SOLiD, and Ion Torrent, has provided comprehensive genomic profiles that inform targeted treatment strategies and enable early detection through liquid biopsies and circulating tumor DNA (ctDNA) analysis. Despite the profound clinical benefits, the integration of NGS into routine practice faces challenges such as technical limitations, complex data interpretation, and substantial infrastructure requirements. Future directions involve technological improvements, combinatorial omics approaches, and extensive validation through clinical trials to confirm the efficacy of NGS-guided interventions. These advancements promise to further enhance the precision and effectiveness of bone cancer management, offering hope for more tailored and effective therapeutic outcomes.
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来源期刊
CiteScore
5.00
自引率
3.60%
发文量
405
审稿时长
24 days
期刊介绍: Pathology, Research and Practice provides accessible coverage of the most recent developments across the entire field of pathology: Reviews focus on recent progress in pathology, while Comments look at interesting current problems and at hypotheses for future developments in pathology. Original Papers present novel findings on all aspects of general, anatomic and molecular pathology. Rapid Communications inform readers on preliminary findings that may be relevant for further studies and need to be communicated quickly. Teaching Cases look at new aspects or special diagnostic problems of diseases and at case reports relevant for the pathologist''s practice.
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