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Microsatellite instability is biased in Amsterdam II-defned Lynch-related cancer cases with family history but is rare in other cancers: A summary of 1000 analyses

Microsatellite instability (MSI) is a key marker for predicting the response of immune checkpoint inhibitors (ICIs) and for screening Lynch syndrome (LS). Aim: This study aimed to see the characteristics of cancers with high level of MSI (MSI-H) in genetic medicine and precision medicine. | Matsubayashi et al. BMC Cancer 2022 22 73 https doi.org 10.1186 s12885-022-09172-5 RESEARCH Open Access Microsatellite instability is biased in Amsterdam II-defined Lynch-related cancer cases with family history but is rare in other cancers a summary of 1000 analyses Hiroyuki Matsubayashi1 2 Satomi Higashigawa1 Yoshimi Kiyozumi1 Takuma Oishi3 Keiko Sasaki3 Hirotoshi Ishiwatari2 Kenichiro Imai2 Kinichi Hotta2 Yohei Yabuuchi2 Kazuma Ishikawa2 Tatsunori Satoh2 Hiroyuki Ono2 Akiko Todaka4 Takeshi Kawakami4 Hiromichi Shirasu4 Hirofumi Yasui4 Teichi Sugiura5 Katsuhiko Uesaka5 Hiroyasu Kagawa6 Akio Shiomi6 Nobuhiro Kado1 7 Yasuyuki Hirashima7 Yoshio Kiyohara8 Etsuro Bando9 Masashi Niwakawa10 Seiichiro Nishimura1 11 Takeshi Aramaki12 Nobuaki Mamesaya13 Hirotsugu Kenmotsu1 13 Yasue Horiuchi1 14 and Masakuni Serizawa15 Abstract Background Microsatellite instability MSI is a key marker for predicting the response of immune checkpoint inhibi- tors ICIs and for screening Lynch syndrome LS . Aim This study aimed to see the characteristics of cancers with high level of MSI MSI-H in genetic medicine and precision medicine. Methods This study analyzed the incidence of MSI-H in 1000 cancers and compared according to several clinical and demographic factors. Results The incidence of MSI-H was highest in endometrial cancers 26.7 20 75 followed by small intestine 20 3 15 and colorectal cancers CRCs 13.7 64 466 the sum of these three cancers 15.6 was significantly higher than that of other types 2.5 P Matsubayashi et al. BMC Cancer 2022 22 73 Page 2 of 12 Keywords Microsatellite Cancer Lynch syndrome Genetic medicine Companion diagnostics Background often coupled with BRAF V600E mutation 15 16 Microsatellites are defined as 10 to 60 base pair regions characterized by the CpG island methylator phenotype which contain repeated multiple tandems consisting 17 independent from LS. of 1 to 5 base pair motifs 10 bp 1 2 that are dis- This study analyzed the MSI status in 1000 Japanese tributed