RT Journal Article
SR Electronic
T1 Microsatellite frameshift variants in <em>SGO1</em> of gastric cancer are not always associated with MSI status
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 386
OP 390
DO 10.1136/jclinpath-2020-206934
VO 74
IS 6
A1 Tomohiro Sugiyama
A1 Moriya Iwaizumi
A1 Terumi Taniguchi
A1 Satoshi Suzuki
A1 Shinya Tani
A1 Mihoko Yamade
A1 Yasushi Hamaya
A1 Satoshi Osawa
A1 Takahisa Furuta
A1 Hiroaki Miyajima
A1 Tsutomu Ohta
A1 Satoshi Baba
A1 Haruhiko Sugimura
A1 Masato Maekawa
A1 Ken Sugimoto
YR 2021
UL http://jcp.bmj.com/content/74/6/386.abstract
AB 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.All data relevant to the study are included in the article.