MEK1 突变导致对 MEK 和 B-RAF 抑制的抗性。

MEK1 mutations confer resistance to MEK and B-RAF inhibition.

机构信息

Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Proc Natl Acad Sci U S A. 2009 Dec 1;106(48):20411-6. doi: 10.1073/pnas.0905833106. Epub 2009 Nov 13.

Abstract

Genetic alterations that activate the mitogen-activated protein kinase (MAP kinase) pathway occur commonly in cancer. For example, the majority of melanomas harbor mutations in the BRAF oncogene, which are predicted to confer enhanced sensitivity to pharmacologic MAP kinase inhibition (e.g., RAF or MEK inhibitors). We investigated the clinical relevance of MEK dependency in melanoma by massively parallel sequencing of resistant clones generated from a MEK1 random mutagenesis screen in vitro, as well as tumors obtained from relapsed patients following treatment with AZD6244, an allosteric MEK inhibitor. Most mutations conferring resistance to MEK inhibition in vitro populated the allosteric drug binding pocket or alpha-helix C and showed robust ( approximately 100-fold) resistance to allosteric MEK inhibition. Other mutations affected MEK1 codons located within or abutting the N-terminal negative regulatory helix (helix A), which also undergo gain-of-function germline mutations in cardio-facio-cutaneous (CFC) syndrome. One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. Both MEK1(P124L) and MEK1(Q56P), which disrupts helix A, conferred cross-resistance to PLX4720, a selective B-RAF inhibitor. However, exposing BRAF-mutant melanoma cells to AZD6244 and PLX4720 in combination prevented emergence of resistant clones. These results affirm the importance of MEK dependency in BRAF-mutant melanoma and suggest novel mechanisms of resistance to MEK and B-RAF inhibitors that may have important clinical implications.

摘要

遗传改变激活丝裂原活化蛋白激酶(MAP 激酶)途径在癌症中很常见。例如,大多数黑色素瘤都存在 BRAF 癌基因的突变,这些突变预计会增强对药物 MAP 激酶抑制(例如 RAF 或 MEK 抑制剂)的敏感性。我们通过对体外 MEK1 随机诱变筛选产生的耐药克隆进行大规模平行测序,以及对接受 AZD6244(一种变构 MEK 抑制剂)治疗后复发患者的肿瘤进行研究,调查了黑色素瘤中 MEK 依赖性的临床相关性。在体外对 MEK 抑制具有耐药性的大多数突变都位于变构药物结合口袋或 alpha 螺旋 C 中,并对变构 MEK 抑制表现出强大的(约 100 倍)耐药性。其他突变影响位于 N 端负调节螺旋(螺旋 A)内或紧邻螺旋 A 的 MEK1 密码子,这些突变也会发生心脏面部皮肤(CFC)综合征的种系 gain-of-function 突变。在接受 AZD6244 治疗的黑色素瘤患者中出现的耐药转移焦点中发现了一种这样的突变,即 MEK1(P124L)。MEK1(P124L)和 MEK1(Q56P)均破坏螺旋 A,可导致对 PLX4720(一种选择性 B-RAF 抑制剂)的交叉耐药。然而,将 AZD6244 和 PLX4720 联合暴露于 BRAF 突变黑色素瘤细胞中可防止耐药克隆的出现。这些结果证实了 BRAF 突变黑色素瘤中 MEK 依赖性的重要性,并提出了对 MEK 和 B-RAF 抑制剂的耐药新机制,这可能具有重要的临床意义。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索