摘要标题：胃癌的全基因组图谱揭示腹膜转移(PM)和非PM患者间基因组改变的差异

Background: PM is the main cause of death in gastric cancer. PM of gastric cancer is difficult to diagnose in its early stage due to lack of obvious clinical signs and symptoms. Comprehensive genome analysis of the primary tumor provides a new strategy for uncovering the pathogenesis and molecular diagnosis of PM. 

研究背景：PM是胃癌患者死亡的主要原因。胃癌的PM由于缺乏明显的临床症状和体征，早期难以诊断。对原发肿瘤进行全基因组分析，为揭示PM的发病机制和分子诊断提供了新的策略。

Methods: DNA was extracted from FFPE samples of the primary tumors from 10 pts with PM and 9 pts without PM (non-PM). Comprehensive genomic profiling was performed using a 1.24M size panel covering exon regions of 1,346 genes based next generation sequencing assay. Somatic Mutations were analyzed to investigate the difference of molecular features between the gastric pts with or without PM. 

Results: The most frequently mutated genes were TP53, RAD50, ZFHX4. In addition, frequent mutations in chromatin remodeling genes such as KDM5A, KMT2C, KAT6A and HDAC2 were detected. Mutations ofGPI, JAK3, PRSS8 and IDH3G are more common in non-PM pts than in PM pts (p < 0.05). Four mutations (PRDM1, c.950G > A; XPC, c.1315G > C; CD68, c.554A > C; ACVR1B, c.1345C > A) were only identified in PM pts. 

研究结果：最常见的突变基因是TP53、RAD50、ZFHX4。此外，还检测到染色质重塑基因的频繁突变，如KDM5A、KMT2C、KAT6A和HDAC2。GPI、JAK3、PRSS8和IDH3G的突变在非PM的患者中比PM患者更常见(p < 0.05)。

Conclusions: Comprehensive genomic profiling of gastric cancer reveals distinctive genomic alterations between PM pts and non-PM pts. Several possible candidate genes that may be helpful for PM of gastric cancer were identified in this small cohort. Expanded prospective cohorts are warranted to further elucidate these findings.

研究结论：胃癌的全基因图谱显示，PM和非PM之间存在明显的基因突变差异。在小部分人群中发现了几个可能对胃癌有帮助的候选基因。需要扩大样本量来进一步证明这些发现。