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Original research
Microsatellite frameshift variants in SGO1 of gastric cancer are not always associated with MSI status
  1. Tomohiro Sugiyama1,
  2. Moriya Iwaizumi2,
  3. Terumi Taniguchi2,
  4. Satoshi Suzuki3,
  5. Shinya Tani1,
  6. Mihoko Yamade1,
  7. Yasushi Hamaya1,
  8. Satoshi Osawa3,
  9. Takahisa Furuta4,
  10. Hiroaki Miyajima1,
  11. Tsutomu Ohta5,
  12. Satoshi Baba6,
  13. Haruhiko Sugimura7,
  14. Masato Maekawa2,
  15. Ken Sugimoto1
  1. 1 First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
  2. 2 Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
  3. 3 Department of Endoscopic and Photodynamic Medicine, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
  4. 4 Center for Clinical Research, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
  5. 5 Department of Physical Therapy, Faculty of Health and Medical Sciences, Tokoha University, Hamamatsu, Shizuoka, Japan
  6. 6 Department of Diagnostic Pathology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
  7. 7 Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan
  1. Correspondence to Dr Moriya Iwaizumi, Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan; iwaizumi{at}hama-med.ac.jp

Abstract

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.

  • stomach neoplasms
  • gastroenterology
  • gastrointestinal neoplasms

Data availability statement

All data relevant to the study are included in the article.

https://doi.org/10.1136/jclinpath-2020-206934

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    Data availability statement

    All data relevant to the study are included in the article.

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    Footnotes

    • Handling editor Runjan Chetty.

    • Contributors MI conceived the study. TS, MI, TT, SS, ST, MY, YH, SO, TF, HM, TO, SB, HS, MM and KS analysed and interpreted the data. TS, MI, HS, MM and KS drafted the manuscript and revised it critically for important intellectual content. All authors read and approved the final manuscript.

    • Funding The present study was supported by the Japan Society for the Promotion of Science (KAKENHI grant no. 19K08392), the Takeda Science Foundation and Hamamatsu University School of Medicine (HUSM) Grant-in-Aid.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; internally peer reviewed.