关键词: DNA/RNA-based next-generation sequencing copy number variation sequencing fluorescence in situ hybridization immunohistochemistry methylation profiling molecular pathology soft tissue tumors

Mesh : Humans Soft Tissue Neoplasms / diagnosis genetics pathology Mutation Bone Neoplasms / diagnosis genetics Prognosis Pathology, Molecular

来  源:   DOI:10.3390/genes14122229   PDF(Pubmed)

Abstract:
Since the introduction of new molecular techniques, the diagnostic landscape of soft tissue and bone tumors has expanded greatly over the past few years. The use of new molecular techniques has led to the identification of new genetic alterations and, therefore, to a better understanding of tumorigenesis, tumor detection and classification. Furthermore, methylation profiling has emerged as a classification tool for soft tissue and bone tumors. Molecular pathology also plays an important role in the determination of patient prognosis and in the identification of targets that can be used for targeted therapy. As a result, molecular pathology has gained a more prominent role in the daily practice of the surgical pathologist. This review delves into various molecular techniques applied in the surgical pathology of soft tissue and bone tumors. It highlights their applications through the analysis of five specific cases.
摘要:
自从引入新的分子技术以来,在过去的几年里,软组织和骨肿瘤的诊断领域有了很大的发展。新分子技术的使用导致了新的遗传改变的鉴定,因此,为了更好地理解肿瘤发生,肿瘤的检测和分类。此外,甲基化分析已成为软组织和骨肿瘤的分类工具。分子病理学在确定患者预后和鉴定可用于靶向治疗的靶标中也起着重要作用。因此,分子病理学在外科病理学家的日常实践中获得了更突出的作用。本文综述了各种分子技术在软组织和骨肿瘤的手术病理学中的应用。通过对五个具体案例的分析,突出了它们的应用。
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