Laboratory of Molecular Genetics, Institute for Cancer Research and Treatment, 10060 Candiolo (Torino), Italy.
Nature. 2012 Jun 28;486(7404):532-6. doi: 10.1038/nature11156.
A main limitation of therapies that selectively target kinase signalling pathways is the emergence of secondary drug resistance. Cetuximab, a monoclonal antibody that binds the extracellular domain of epidermal growth factor receptor (EGFR), is effective in a subset of KRAS wild-type metastatic colorectal cancers. After an initial response, secondary resistance invariably ensues, thereby limiting the clinical benefit of this drug. The molecular bases of secondary resistance to cetuximab in colorectal cancer are poorly understood. Here we show that molecular alterations (in most instances point mutations) of KRAS are causally associated with the onset of acquired resistance to anti-EGFR treatment in colorectal cancers. Expression of mutant KRAS under the control of its endogenous gene promoter was sufficient to confer cetuximab resistance, but resistant cells remained sensitive to combinatorial inhibition of EGFR and mitogen-activated protein-kinase kinase (MEK). Analysis of metastases from patients who developed resistance to cetuximab or panitumumab showed the emergence of KRAS amplification in one sample and acquisition of secondary KRAS mutations in 60% (6 out of 10) of the cases. KRAS mutant alleles were detectable in the blood of cetuximab-treated patients as early as 10 months before radiographic documentation of disease progression. In summary, the results identify KRAS mutations as frequent drivers of acquired resistance to cetuximab in colorectal cancers, indicate that the emergence of KRAS mutant clones can be detected non-invasively months before radiographic progression and suggest early initiation of a MEK inhibitor as a rational strategy for delaying or reversing drug resistance.
治疗方法的一个主要局限性是选择性靶向激酶信号通路,这会导致继发性药物耐药。西妥昔单抗是一种单克隆抗体,可与表皮生长因子受体(EGFR)的细胞外结构域结合,对 KRAS 野生型转移性结直肠癌有效。在初始反应后,必然会出现继发性耐药,从而限制了该药物的临床获益。结直肠癌对西妥昔单抗产生继发性耐药的分子基础尚不清楚。在这里,我们表明 KRAS 的分子改变(在大多数情况下为点突变)与结直肠癌对抗 EGFR 治疗获得性耐药的发生有因果关系。在其内源基因启动子的控制下表达突变型 KRAS 足以赋予西妥昔单抗耐药性,但耐药细胞仍然对 EGFR 和丝裂原活化蛋白激酶激酶(MEK)的联合抑制敏感。对发生西妥昔单抗或帕尼单抗耐药的患者的转移灶进行分析显示,在一个样本中出现了 KRAS 扩增,在 60%(10 例中的 6 例)的病例中获得了继发性 KRAS 突变。在放射影像学记录疾病进展之前的 10 个月,就可以在接受西妥昔单抗治疗的患者的血液中检测到 KRAS 突变等位基因。总之,这些结果将 KRAS 突变鉴定为结直肠癌对西妥昔单抗获得性耐药的常见驱动因素,表明 KRAS 突变克隆的出现可以在放射影像学进展之前的数月内进行非侵入性检测,并提示早期启动 MEK 抑制剂作为延迟或逆转耐药性的合理策略。