Pharmacogenetics and Gene Therapy Platform, IIS La Fe, Hospital La Fe, Torre A-Lab 4.03, Av. Fernando Abril Martorell 106, 46026 Valencia, Spain.
Department of Pharmacology, Faculty of Medicine, University of Valencia, Av. Blasco Ibáñez 15, 46010 Valencia, Spain.
Int J Mol Sci. 2021 Sep 10;22(18):9815. doi: 10.3390/ijms22189815.
Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients' clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the clinic, and how to distinguish them from the ones that still need validation to confirm their utility. Further aspects as relevant characteristics regarding ontogeny and future directions in the research will also be discussed.
药物遗传学是个性化精准医学的基石之一,需要在患者的临床管理常规中实施,以便尽可能地调整他们的治疗方法,旨在最大限度地提高疗效和降低毒性。这一点非常重要,尤其是在儿科癌症中,甚至在神经母细胞瘤等复杂恶性肿瘤中更是如此,神经母细胞瘤的治疗成功率仍然低于许多其他类型的肿瘤。这些研究主要集中在种系遗传变异上,在本综述中,介绍了最新的进展:有哪些变异具有足够高的证据水平,可以在临床上实施,以及如何将它们与那些仍需要验证以确认其效用的变异区分开来。此外,还将讨论与胚胎发生相关的其他方面以及研究的未来方向。