Oncogenic and sorafenib-sensitive ARAF mutations in lung adenocarcinoma

被引:111
作者
Imielinski, Marcin [1 ,2 ,3 ]
Greulich, Heidi [2 ,3 ,4 ]
Kaplan, Bethany [2 ,3 ]
Araujo, Luiz [5 ]
Amann, Joseph [5 ]
Horn, Leora [6 ]
Schiller, Joan [7 ]
Villalona-Calero, Miguel A. [5 ]
Meyerson, Matthew [2 ,3 ,8 ]
Carbone, David P. [5 ]
机构
[1] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Mol Pathol Unit, Charlestown, MA USA
[2] Broad Inst Harvard & MIT, Canc Program, Cambridge, MA USA
[3] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA
[4] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Med, Boston, MA 02115 USA
[5] Ohio State Univ, Wexner Med Ctr, James Thorac Ctr, Columbus, OH 43210 USA
[6] Vanderbilt Univ, Med Ctr, Vanderbilt Ingram Canc Ctr, Nashville, TN USA
[7] Univ Texas SW Med Ctr Dallas, Dept Med, Dallas, TX 75390 USA
[8] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA
关键词
TYROSINE KINASE; PHASE-II; CANCER; INHIBITOR; GENOME; STAGE;
D O I
10.1172/JCI72763
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
100103 [病原生物学]; 100218 [急诊医学];
摘要
Targeted cancer therapies often induce "outlier" responses in molecularly defined patient subsets. One patient with advanced-stage lung adenocarcinoma, who was treated with oral sorafenib, demonstrated a near-complete clinical and radiographic remission for 5 years. Whole-genome sequencing and RNA sequencing of primary tumor and normal samples from this patient identified a somatic mutation, ARAF S214C, present in the cancer genome and expressed at high levels. Additional mutations affecting this residue of ARAF and a nearby residue in the related kinase RAF1 were demonstrated across 1% of an independent cohort of lung adenocarcinoma cases. The ARAF mutations were shown to transform immortalized human airway epithelial cells in a sorafenib-sensitive manner. These results suggest that mutant ARAF is an oncogenic driver in lung adenocarcinoma and an indicator of sorafenib response.
引用
收藏
页码:1582 / 1586
页数:5
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