Table 2.
Summary of MSI-H/dMMR related diseases
| Diseases | MSI characteristics | Prognosis | Treatment options |
|---|---|---|---|
| Lynch syndrome (LS) | EpCAM immunostaining is an important factor, common in patients over 60 years old, most of them arenormal adenocarcinoma, villous adenoma, adenoma over 1 cm and highly dysplastic adenoma | MSI-H/dMMR patients with lynch syndrome have good prognosis | Aspirin/sulinda may play a preventive role in reducing the risk of Lynch syndrome-related cancer, especially in patients with hMSH2 and hMLH1 gene changes |
| Colorectal cancer (CRC) | MSI-H tumors are infiltrated with dense cytotoxic T cells, generally occur on the right side | Stage I and stage II MSI CRC have good prognosis, stage III MSI CRC have bad prognosis | Stage III to IV CRC patients can use 5-FU as a chemotherapeutic, neither stage I to II CRC patients. And choose anti-PD-1/PDL-1 treatment for CRC patients at different stage |
| Gastric cancer (GC) | The high expression of CD8 positive T cell molecular marker, PD-L1 gene and IFN γ gene in patients with MSI-H | MSI-H resectable primary gastric cancer have good prognosis | MSI-H GC should avoid adjuvant chemotherapy, take surgical treatment |
| Breast cancer | BRCA1 mutation can cause MSI. MSI related loci D3S1766 and D2S2739 can identify MSI related breast cancer | MSI-H patients with breast cancer have bad prognosis | Olaparib can strengthen other drugs’ effect such as platinum in combination |
| Prostate cancer | MSI-frequency < 1%, is closely related to pathogenic embryonic mutants carrying Lynch syndrome-related genes | MSI-H/dMMR patients with prostate cancer have good prognosis | Anti-PD-1/PDL-1 treatment |
| Cholangiocarcinoma | MSI frequency < 1%, most of them are young patients with atypical tissue morphology | MSI-H/dMMR patients with cholangiocarcinoma have good prognosis | ICI (immune checkpoint inhibitor) combined with radiotherapy |
| Leukemia | MSI frequency < 1%, most of them are chronic myeloid leukemia | MSI-H/dMMR patients with leukemia have good prognosis | Anti-PD-1/PDL-1 treatment |
| Bladder cancer | hMSH2mutation can increase the risk of getting bladder cancer, MSI related loci D9S63, D9S156, and D9S283 can be used to screen patients with high micro bladder cancer | MSI-H/dMMR patients with bladder cancer have good prognosis | Anti-PD-1/PDL-1 treatment |
| Ovarian cancer | An increased number of CD8+, PD-1+, and TILS in MSI Ovarian cancer patients | the MSI-H patients with Clear-cell ovarian carcinoma (CCOCs) are suitable for immunotherapy | Anti-PD-1/PD-L1 drugs |
| Endometrial Carcinoma (EC) | UCEC patients with MSI has higher immune components, CD3+ and CD8 + TIL | MSI-H EC in the middle and late stage is associated with bad prognosis | Use anti-PD-1/ PD-L1 drugs and chemotherapeutic drugs such as temozolomide and cisplatin. |
| Pancreatic ductal adenocarcinoma (PDAC) | HMLH1 and hMSH2 are mostly inactivated | MSI-H/dMMR patients with PDAC have good prognosis | Anti-PD-1/PD-L1 drugs |
| Follicular thyroid cancer (FTC) | Advanced FTC associated with MMR inactivation | MSI-H patients with FTC have a prolonged survival time | Anti-PD-1/PD-L1 drugs |
| Adrenocortical cancer (ACC) | MSI-H/dMMR patients with ACC have high variation load, ACC is closely related to the deletion mutations of hMSH2 | no relevant literature about the effect of MSI on the prognosis of cortical carcinoma | ACC is not effective in immunotherapy of dendritic cells without immune response |
PD-L1 programmed cell death-Ligand 1, dMMR mismatch repair deficient, MSI-H microsatellite high instability