基因组剖析--临床决策的需要?-案例报告。

Current health sciences journal Pub Date : 2023-07-01 Epub Date: 2023-09-30 DOI:10.12865/CHSJ.49.03.22
Ana-Maria Ciurea, Michael Schenker, Cristina Mihaela Ciofiac, Liliana Streba, Ramona Schenker, Costin Teodor Streba
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引用次数: 0

摘要

由于癌症发病率和死亡率的上升,癌症仍然是全球重要的健康问题。个性化医疗是癌症治疗的未来。技术的发展提高了 DNA/RNA 测序的技术能力。实体瘤样本中的 NGS 技术可以描述 DNA 或 RNA 分析,包括整个基因组,以检测与临床相关的突变。由于分子改变的异质性取决于时间和治疗的影响,因此基因结果可被视为具有动态影响。我们对过去五年中 "Sf.Nectarie "肿瘤中心(罗马尼亚克拉约瓦)的患者进行的所有 NGS 检测。我们选择了三个相关的临床病例,在这些病例中进行了 NGS 分析,结果改变了临床决策的观点。我们的目的是评估 NGS 结果在临床方法中的重要性。尽管医学在过去几十年中取得了重大发展,但只有少数患者能从先进的个性化治疗中获益。由于基因检测不容易获得,而且只有一小部分患者携带基因改变,因此仍然很难确定基因改变或基因突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomic Profiling - A Need for Clinical Decision? -Case Reports.

Cancer is still an important health issue worldwide due to increased incidence and mortality. Personalized medicine is the future of cancer treatment. Development in technology improved technical skills in DNA/RNA sequencing. NGS technology in solid-tumor samples can describe DNA or RNA analysis by including the entire genome to detect clinical relevant mutations. Genetic results may be considered having a dynamic impact because of heterogenous molecular alterations depending of time and treatment influence. We conducted a retrospective study of all NGS tests made in the last five years for the patients from 'Sf. Nectarie' Oncology Center, Craiova, Romania. We selected three relevant clinical cases where NGS analysis was performed and the results changed the perspective of the clinical decision. Our aim is to evaluate the importance of NGS results in clinical approach. Although medicine known an important development during the last decades, only a few patients can benefit of advanced personalized treatments. It is still hard to identify the alterations or gene mutations because of genetic tests are not easily available and only a small proportion of patients carries genetic alterations.

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