Microsatellite frameshift variants in SGO1 of gastric cancer are not always associated with MSI status
Microsatellite frameshift variants in SGO1 of gastric cancer are not always associated with MSI status
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DOI：
10.1136/jclinpath-2020-206934
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发表时间：
2020-08
影响因子：
3.4
通讯作者：
T. Sugiyama;M. Iwaizumi;T. Taniguchi;Satoshi Suzuki;Shinya Tani;M. Yamade;Yasushi Hamaya;S. Osawa;T. Furuta;H. Miyajima;T. Ohta;S. Baba;H. Sugimura;M. Maekawa;K. Sugimoto
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文献类型：
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作者：
T. Sugiyama;M. Iwaizumi;T. Taniguchi;Satoshi Suzuki;Shinya Tani;M. Yamade;Yasushi Hamaya;S. Osawa;T. Furuta;H. Miyajima;T. Ohta;S. Baba;H. Sugimura;M. Maekawa;K. Sugimoto
虽然在微卫星不稳定性高（MSI-H）/错配修复缺陷的胃肠道癌的背景下，已经报道了shugoshin 1（SGO 1）微卫星区域的移码变体，但大多数仅在早期I-III期患者中进行了评估，并且仅评估了其五个微卫星区域中的两个。因此，我们研究了胃癌病例中微卫星移码变异的频率和MSI状态，包括IV期。方法对55例胃癌患者（胃癌切除组30例，非胃癌切除组25例）的肿瘤组织和正常组织提取DNA，进行PCR扩增。通过TA克隆确认变异体，并使用GeneMapper软件评估MSI。结果在45例可评估的病例中，16例观察到c.973delA的移码变异。其频率为35.6%。在可以评估MSI状态的25例病例中，2例MSI-H病例与c.973delA SGO1变体相关。然而，c.973delA SGO1变异也观察到4例微卫星稳定。结论SGO1移码突变与MSI状态无关。
Aims Although frameshift variants in the microsatellite area of shugoshin 1 (SGO1) have been reported in the context of microsatellite instability-high (MSI-H)/deficient mismatch repair gastrointestinal cancer, most have been evaluated only in early stage I–III patients, and only two of its five microsatellite regions have been evaluated. Therefore, we investigated the frequency and MSI status of microsatellite frameshift variants in gastric cancer cases, including stage IV. Methods In a total of 55 cases, 30 gastric cancer resection and 25 non-resection cases, DNA was extracted from both tumour and normal parts and PCR was performed. The variant was confirmed by TA cloning, and MSI was evaluated using GeneMapper software. Results A frameshift variant of c.973delA was observed in 16 of the 45 evaluable cases. Its frequency was 35.6%. Of the 25 cases that could be assessed for MSI status, two cases of MSI-H were associated with the c.973delA SGO1 variant. However, c.973delA SGO1 variant was also observed in four cases of microsatellite stable. Conclusion Our study shows that SGO1 frameshift variants are not always associated with MSI status.