Identification of genomic features associated with immunotherapy response in gastrointestinal cancers

Figure 1 Association between mismatch repair deficiency/microsatellite instability and tumor immunity in gastrointestinal cancers. A: Immune signatures are upregulated in the microsatellite instability-high (MSI-H) colon adenocarcinoma (COAD) vs the MSI low (MSI-L)/microsatellite stability (MSS) COAD (Mann-Whitney U test, P < 0.05); B: Immune signatures are upregulated in the MSI-H stomach adenocarcinoma (STAD) vs the MSI-L/MSS STAD. dMMR: Mismatch repair deficiency; MSI: Microsatellite instability; MSI-H: Microsatellite instability-high; MSI-L: Microsatellite instability-low; MSS: Microsatellite stability. ^aP < 0.05, ^bP < 0.01, ^cP < 0.001, MSI-H vs MSI-L/MSS. HLA: Human leukocyte antigen; IFN: Interferon; NK: Natural killer.

Figure 2 Association between tumor mutation burden and tumor immunity in gastrointestinal cancers. A: Comparison of tumor mutation burden (TMB) between different cancer types and microsatellite instability-high subtypes; B: Immune signatures are positively correlated with TMB in colon adenocarcinoma and in stomach adenocarcinoma (Spearman's correlation test, P < 0.05). MSI-H: Microsatellite instability-high; ESCA: Esophageal adenocarcinoma; COAD: Colon adenocarcinoma; STAD: Stomach adenocarcinoma; SKCM: Skin cutaneous melanoma; UCEC: Uterine corpus endometrial carcinoma; READ: Rectum adenocarcinoma; UCS: Uterine carcinosarcoma; LUAD: Lung adenocarcinoma; LUSC: Lung squamous cell carcinoma; DLBC: Lymphoid neoplasm diffuse large B-cell lymphoma; BLCA: Bladder urothelial carcinoma; ACC: Adrenocortical carcinoma; CESC: Cervical and endocervical cancers; GBM: Glioblastoma multiforme; LIHC: Liver hepatocellular carcinoma; LGG: Brain lower-grade glioma; SARC: Sarcoma; CHOL: Cholangiocarcinoma; KICH: Kidney chromophobe; TGCT: Testicular germ-cell tumors; BRCA: Breast invasive carcinoma; PRAD: Prostate adenocarcinoma; OV: Ovarian serous cystadenocarcinoma; KIRP: Kidney renal papillary cell carcinoma; KIRC: Kidney renal clear cell carcinoma; THYM: Thymoma; UVM: Uveal melanoma; THCA: Thyroid carcinoma; PCPG: Pheochromocytoma and paraganglioma; LAML: Acute myeloid leukemia; HLA: Human leukocyte antigen; IFN: Interferon; NK: Natural killer.

Figure 3 Tumor aneuploidy is negatively associated with tumor immunity in gastrointestinal cancers. LIHC: Liver hepatocellular carcinoma; HLA: Human leukocyte antigen; IFN: Interferon; NK: Natural killer. STAD: Stomach adenocarcinoma; COAD: Colon adenocarcinoma.