Schroth Werner, Mürdter Thomas E, Schwab Matthias
Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.
University of Tübingen, Tübingen, Germany.
Cancer Epidemiol Biomarkers Prev. 2025 Feb 6;34(2):221-223. doi: 10.1158/1055-9965.EPI-24-1617.
The selective estrogen receptor modulator tamoxifen is a mainstay of endocrine breast cancer therapy. However, the clinical response rates of tamoxifen are inferior to those of aromatase inhibitors, which may be partially explained by variable drug exposure due to the pharmacogenetics of the drug-metabolizing enzyme cytochrome P450 (CYP) 2D6. Clinical trials investigating the association between CYP2D6 impairment and tamoxifen outcomes have yielded conflicting results. The results of a comprehensive meta-analysis of 33 single-center tamoxifen trials reported here address this inconsistency by adjusting for two biases that may affect the validity of previous association studies: allele coverage of CYP2D6 genotyping and loss of heterozygosity of the CYP2D6 locus in tumor-derived DNA. After adjustment for bias, meta-analyses show significantly reduced study heterogeneity and a higher risk of recurrence or death in patients with impaired CYP2D6 metabolism compared with those with normal activity. These data may support the use of pharmacogenetics-guided tamoxifen therapy to improve outcomes in patients with CYP2D6-compromised breast cancer. Prospective studies should be considered. See related article by MacLehose et al., p. 224.
选择性雌激素受体调节剂他莫昔芬是内分泌性乳腺癌治疗的主要药物。然而,他莫昔芬的临床反应率低于芳香化酶抑制剂,这可能部分归因于药物代谢酶细胞色素P450(CYP)2D6的药物遗传学导致的药物暴露差异。调查CYP2D6功能受损与他莫昔芬治疗结果之间关联的临床试验得出了相互矛盾的结果。本文报道的一项对33项单中心他莫昔芬试验的综合荟萃分析结果,通过校正可能影响既往关联研究有效性的两种偏倚,即CYP2D6基因分型的等位基因覆盖范围和肿瘤来源DNA中CYP2D6基因座的杂合性缺失,解决了这一不一致性问题。校正偏倚后,荟萃分析显示研究异质性显著降低,与CYP2D6代谢正常的患者相比,CYP2D6代谢受损的患者复发或死亡风险更高。这些数据可能支持采用药物遗传学指导的他莫昔芬治疗,以改善CYP2D6功能受损的乳腺癌患者的治疗结果。应考虑开展前瞻性研究。见MacLehose等人的相关文章,第224页。