墨西哥结直肠癌患者中K-RAS突变的频率和类型：一项全国性研究。
The Frequency and Type of K-RAS Mutations in Mexican Patients With Colorectal Cancer: A National Study.
作者信息
Cárdenas-Ramos Susana G, Alcázar-González Gregorio, Reyes-Cortés Luisa M, Torres-Grimaldo Abdiel A, Calderón-Garcidueñas Ana L, Morales-Casas José, Flores-Sánchez Patricia, De León-Escobedo Raúl, Gómez-Díaz Antonio, Moreno-Bringas Carmen, Sánchez-Guillén Jorge, Ramos-Salazar Pedro, González-de León César, Barrera-Saldaña Hugo A
机构信息
*Genomic Bioanalysis Laboratory, Vitagénesis, SA de CV ‡Facultad de Medicina, UANL §ISSSTE Hospital Regional **Hospital Regional de Especialidades IMSS 25 ‡‡Clínica Opción Oncología, Monterrey, Nuevo León †Instituto de Medicina Forense, Universidad Veracruzana, Boca del Río, Veracruz ∥Hospital General Regional IMSS 6 #IMSS Hospital General de Zona No 6, Ciudad Madero, Tamaulipas ¶Hospital General, Chihuahua, Chihuahua ††Laboratorio Ramos, Ciudad Obregón, Sonora, Mexico.
出版信息
Am J Clin Oncol. 2017 Jun;40(3):274-276. doi: 10.1097/COC.0000000000000143.
BACKGROUND
Current metastatic colorectal cancer (mCRC) therapy uses monoclonal antibodies against the epidermal growth factor receptor. This treatment is only useful in the absence of K-RAS gene mutations; therefore the study of such mutations is part of a personalized treatment. The aim of this work is to determine the frequency and type of the most common K-RAS mutations in Mexican patients with metastatic disease by nucleotide sequencing.
PATIENTS AND METHODS
We studied 888 patients with mCRC from different regions of Mexico. The presence of mutations in exon 2, codons 12 and 13, of the K-RAS gene was determined by nucleotide sequencing.
RESULTS
Patients exhibited K-RAS gene mutations in 35% (310/888) of cases. Mutation frequency of codons 12 and 13 was 71% (221/310) and 29% (89/310), respectively. The most common mutation (45.7%) in codon 12 was c.35G>A (p.G12D), whereas the one in codon 13 was c.38G>A (p.G13D) (78.7%).
DISCUSSION
Given the frequency of K-RAS mutations in Mexicans, making a genetic study before deciding to treat mCRC patients with monoclonal antibodies is indispensable.
背景
目前转移性结直肠癌（mCRC）的治疗使用针对表皮生长因子受体的单克隆抗体。这种治疗仅在不存在K-RAS基因突变时才有效；因此，此类突变的研究是个性化治疗的一部分。本研究的目的是通过核苷酸测序确定墨西哥转移性疾病患者中最常见的K-RAS突变的频率和类型。
患者与方法
我们研究了来自墨西哥不同地区的888例mCRC患者。通过核苷酸测序确定K-RAS基因第2外显子第12和13密码子的突变情况。
结果
35%（310/888）的患者存在K-RAS基因突变。第12和13密码子的突变频率分别为71%（221/310）和29%（89/310）。第12密码子最常见的突变（45.7%）是c.35G>A（p.G12D），而第13密码子的是c.38G>A（p.G13D）（78.7%）。
讨论
鉴于墨西哥人K-RAS突变的频率，在决定用单克隆抗体治疗mCRC患者之前进行基因研究是必不可少的。
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