Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Expert Rev Mol Diagn. 2012 Jul;12(6):593-602. doi: 10.1586/erm.12.59.
In the field of oncology, clinical molecular diagnostics and biomarker discoveries are constantly advancing as the intricate molecular mechanisms that transform a normal cell into an aberrant state in concert with the dysregulation of alternative complementary pathways are increasingly understood. Progress in biomarker technology, coupled with the companion clinical diagnostic laboratory tests, continue to advance this field, where individualized and customized treatment appropriate for each individual patient define the standard of care. Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.
在肿瘤学领域,随着正常细胞向异常状态转变的复杂分子机制以及替代互补途径的失调逐渐被理解,临床分子诊断和生物标志物的发现不断取得进展。生物标志物技术的进步,加上伴随的临床诊断实验室测试,继续推动着这一领域的发展,个体化和定制化的治疗方案适合每个患者,这已成为护理标准。在这里,我们讨论了临床肿瘤分子检测中当前常用的预测性药物遗传学生物标志物:黑色素瘤中的 vemurafenib 的 BRAF V600E;非小细胞肺癌中的 crizotinib 和 EGFR 的 EML4-ALK;结直肠癌中的 cetuximab 和 panitumumab 的 KRAS;乳腺癌中的 trastuzumab 的 ERBB2(HER2/neu);慢性髓性白血病中的酪氨酸激酶抑制剂的 BCR-ABL;以及全反式维甲酸和三氧化二砷治疗急性早幼粒细胞白血病的 PML/RARα。