外显子组测序将早期胃癌鉴定为进展期胃癌的一个早期阶段。
Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.
作者信息
Kang Guhyun, Hwang Woo Cheol, Do In-Gu, Wang Kai, Kang So Young, Lee Jeeyun, Park Se Hoon, Park Joon Oh, Kang Won Ki, Jang Jiryeon, Choi Min-Gew, Lee Jun Ho, Sohn Tae Sung, Bae Jae Moon, Kim Sung, Kim Min Ji, Kim Seonwoo, Park Cheol Keun, Kim Kyoung-Mee
机构信息
Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea ; Department of Pathology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea ; Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University School of Medicine, Seoul, Korea.
出版信息
PLoS One. 2013 Dec 23;8(12):e82770. doi: 10.1371/journal.pone.0082770. eCollection 2013.
Gastric carcinoma is one of the major causes of cancer-related mortality worldwide. Early detection and treatment leads to an excellent prognosis in patients with early gastric cancer (EGC), whereas the prognosis of patients with advanced gastric cancer (AGC) remains poor. It is unclear whether EGCs and AGCs are distinct entities or whether EGCs are the beginning stages of AGCs. We performed whole exome sequencing of four samples from patients with EGC and compared the results with those from AGCs. In both EGCs and AGCs, a total of 268 genes were commonly mutated and independent mutations were additionally found in EGCs (516 genes) and AGCs (3104 genes). A higher frequency of C>G transitions was observed in intestinal-type compared to diffuse-type carcinomas (P = 0.010). The DYRK3, GPR116, MCM10, PCDH17, PCDHB1, RDH5 and UNC5C genes are recurrently mutated in EGCs and may be involved in early carcinogenesis.
胃癌是全球癌症相关死亡的主要原因之一。早期检测和治疗可使早期胃癌（EGC）患者获得良好预后，而晚期胃癌（AGC）患者的预后仍然较差。目前尚不清楚EGC和AGC是否为不同的实体，或者EGC是否为AGC的起始阶段。我们对4例EGC患者的样本进行了全外显子组测序，并将结果与AGC患者的结果进行了比较。在EGC和AGC中，共有268个基因发生了共同突变，另外在EGC（516个基因）和AGC（3104个基因）中还发现了独立突变。与弥漫型癌相比，肠型癌中观察到更高频率的C>G转换（P = 0.010）。DYRK3、GPR116、MCM10、PCDH17、PCDHB1、RDH5和UNC5C基因在EGC中反复发生突变，可能参与早期致癌过程。
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