Koivunen J P, Kim J, Lee J, Rogers A M, Park J O, Zhao X, Naoki K, Okamoto I, Nakagawa K, Yeap B Y, Meyerson M, Wong K-K, Richards W G, Sugarbaker D J, Johnson B E, Jänne P A
Lowe Center for Thoracic Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Br J Cancer. 2008 Jul 22;99(2):245-52. doi: 10.1038/sj.bjc.6604469. Epub 2008 Jul 1.
Somatic mutations of LKB1 tumour suppressor gene have been detected in human cancers including non-small cell lung cancer (NSCLC). The relationship between LKB1 mutations and clinicopathological characteristics and other common oncogene mutations in NSCLC is inadequately described. In this study we evaluated tumour specimens from 310 patients with NSCLC including those with adenocarcinoma, adenosquamous carcinoma, and squamous cell carcinoma histologies. Tumours were obtained from patients of US (n=143) and Korean (n=167) origin and screened for LKB1, KRAS, BRAF, and EGFR mutations using RT-PCR-based SURVEYOR-WAVE method followed by Sanger sequencing. We detected mutations in the LKB1 gene in 34 tumours (11%). LKB1 mutation frequency was higher in NSCLC tumours of US origin (17%) compared with 5% in NSCLCs of Korean origin (P=0.001). They tended to occur more commonly in adenocarcinomas (13%) than in squamous cell carcinomas (5%) (P=0.066). LKB1 mutations associated with smoking history (P=0.007) and KRAS mutations (P=0.042) were almost mutually exclusive with EGFR mutations (P=0.002). The outcome of stages I and II NSCLC patients treated with surgery alone did not significantly differ based on LKB1 mutation status. Our study provides clinical and molecular characteristics of NSCLC, which harbour LKB1 mutations.
在包括非小细胞肺癌(NSCLC)在内的人类癌症中已检测到LKB1肿瘤抑制基因的体细胞突变。LKB1突变与NSCLC的临床病理特征及其他常见癌基因突变之间的关系描述不足。在本研究中,我们评估了310例NSCLC患者的肿瘤标本,包括腺癌、腺鳞癌和鳞状细胞癌组织学类型的患者。肿瘤取自美国患者(n = 143)和韩国患者(n = 167),使用基于RT-PCR的SURVEYOR-WAVE方法随后进行Sanger测序,对LKB1、KRAS、BRAF和EGFR突变进行筛查。我们在34个肿瘤(11%)中检测到LKB1基因突变。美国起源的NSCLC肿瘤中LKB1突变频率较高(17%),而韩国起源的NSCLC中为5%(P = 0.001)。它们在腺癌(13%)中比在鳞状细胞癌(5%)中更常见(P = 0.066)。与吸烟史相关的LKB1突变(P = 0.007)和KRAS突变(P = 0.042)与EGFR突变几乎相互排斥(P = 0.002)。仅接受手术治疗的I期和II期NSCLC患者的预后根据LKB1突变状态无显著差异。我们的研究提供了携带LKB1突变的NSCLC的临床和分子特征。