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骨肉瘤中的药物基因组学和药物遗传学:转化研究与临床影响。

Pharmacogenomics and Pharmacogenetics in Osteosarcoma: Translational Studies and Clinical Impact.

机构信息

IRCCS Istituto Ortopedico Rizzoli, Laboratory of Experimental Oncology, Pharmacogenomics and Pharmacogenetics Research Unit, Bologna, Italy.

出版信息

Int J Mol Sci. 2020 Jun 30;21(13):4659. doi: 10.3390/ijms21134659.

Abstract

High-grade osteosarcoma (HGOS) is a very aggressive bone tumor which primarily affects adolescents and young adults. Although not advanced as is the case for other cancers, pharmacogenetic and pharmacogenomic studies applied to HGOS have been providing hope for an improved understanding of the biology and the identification of genetic biomarkers, which may impact on clinical care management. Recent developments of pharmacogenetics and pharmacogenomics in HGOS are expected to: i) highlight genetic events that trigger oncogenesis or which may act as drivers of disease; ii) validate research models that best predict clinical behavior; and iii) indicate genetic biomarkers associated with clinical outcome (in terms of treatment response, survival probability and susceptibility to chemotherapy-related toxicities). The generated body of information may be translated to clinical settings, in order to improve both effectiveness and safety of conventional chemotherapy trials as well as to indicate new tailored treatment strategies. Here, we review and summarize the current scientific evidence for each of the aforementioned issues in view of possible clinical applications.

摘要

高级别骨肉瘤(HGOS)是一种侵袭性很强的骨肿瘤,主要影响青少年和年轻人。尽管不像其他癌症那样先进,但应用于 HGOS 的遗传药理学和遗传基因组学研究为更好地了解生物学和确定可能影响临床护理管理的遗传生物标志物提供了希望。HGOS 中遗传药理学和遗传基因组学的最新进展有望:i)突出触发肿瘤发生的遗传事件或可能作为疾病驱动因素的事件;ii)验证最能预测临床行为的研究模型;iii)指出与临床结果相关的遗传生物标志物(就治疗反应、生存概率和对化疗相关毒性的易感性而言)。生成的信息体可能会转化为临床环境,以提高常规化疗试验的有效性和安全性,并为新的定制治疗策略指明方向。在这里,我们回顾和总结了目前针对上述每一个问题的科学证据,以期可能的临床应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b233/7369799/50cb114056cc/ijms-21-04659-g001.jpg

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