Table 2.
Prevalence of mismatch repair deficiency in adult solid tumours by cancer type and stage.
| Cancer | Prevalence from random-effect model (95% CI)a | ||
|---|---|---|---|
| Overall | Early stage | Advanced stage | |
| Gastrointestinal cancers | |||
| Anal cancer | – | – | – |
| Appendiceal cancer | 2.5% (0.0–7.4%) | – | – |
| Colon cancerc | 8.9% (5.4–13.2%), I2 = 0.81b | 20.7% (14.3–27.9%), I2 = 0.97b | 7.9% (6.5–9.5%) |
| Colorectal cancerc | 11.7% (9.3–14.4%), I2 = 0.98b | 9.0% (7.5–10.6%) | 6.9% (5.4–8.5%) |
| Esophageal cancer | 3.8% (1.1–7.8%), I2 = 0.77 b | – | – |
| Gastric cancer | 8.7% (7.6–9.9%), I2 = 0.2 | 10.2% (8.2–12.4%), I2 = 0.6 b | 5.6% (3.9–7.6%), I2 = 0 |
| Liver cancer | 0.0% (0.0–2.2%) | – | – |
| Pancreatic cancer | 1.5% (0.6–2.7%), I2 = 0.15 | – | 0.0% (0.0–3.4%) |
| Rectal cancerc | – | 8.7% (2.4–18.3%), I2 = 0.95b | – |
| Small bowel cancer | 21.0% (15.8–26.7%), I2 = 0.77b | 21.3% (13.5–30.2%) | – |
| Genitourinary tract cancers | |||
| Bladder/urothelial cancer | 4.4% (1.6–8.3%), I2 = 0.88b | – | – |
| Kidney cancer | 0.8% (0.2–1.8%) | – | – |
| Penile cancer | 0.0% (0.0–2.4%) | – | – |
| Prostate cancer | 6.2% (0.7–16.2%), I2 = 0.97b | – | 3.5% (1.3–6.6%) |
| Testicular cancer | – | 0.0% (0.0–2.2%) | – |
| Breast and gynaecological cancers | |||
| Breast cancer | 1.3% (0.7–2.0%), I2 = 0.71b | – | – |
| Cervical cancer | 1.9% (0.0–5.8%) | – | – |
| Endometrial cancer (EC) | 26.8% (23.3–30.5%), I2 = 0.92b | 27.6% (22.0–33.7%), I2 = 0.92b | – |
| Ovarian cancer | 2.4% (0.5–5.5%), I2 = 0.92b | 7.2% (5.1–9.6%) | – |
| Uterine cancer (excl. EC) | – | – | – |
| Vulvar cancer | – | – | – |
| Thoracic cancers | |||
| Lung cancer | 1.6% (0.5–3.4%), I2 = 0.76b | – | – |
| Thymic malignancy | 3.9% (0.1–11.5%) | – | – |
| Biliary tract cancers | |||
| Ampullary cancer | – | 18.1% (11.9–25.3%) | – |
| Bile duct/gallbladder | 3.8% (1.5–7.0%), I2 = 0.66 | – | – |
| Head and neck cancers, sarcomas, and skin cancers | |||
| Head and neck cancers | 2.2% (0.1–6.1%), I2 = 0.86b | – | – |
| Sarcomas | 0.5% (0.0–2.1%), I2 = 0.72 | – | – |
| Skin cancers | 4.2% (0.3–11.9%), I2 = 0.94b | – | 9.1% (5.2–13.8%) |
| Central nervous system tumours, endocrine tumours, neuroendocrine tumours, and other cancers | |||
| Brain tumours | 3.8% (0.0–12.8%), I2 = 0.91b | – | 5.1% (3.0–7.7%), I2 = 0.21 |
| Endocrine tumours | 0.7% (0.1–1.7%) | – | – |
| Neuroendocrine tumours | 0.0% (0.0–1.2%) | – | – |
| Other cancersd | 2.1% (0.1–6.0%), I2 = 0.82b | – | – |
aHeterogeneity across studies was presented based on the point estimate of I2 score and heterogeneity test, if ≥ 2 records were available for each cancer type and stage group.
bStatistically significant heterogeneity across studies (p < 0.05).
cWe analysed the pooled prevalence of pan-tumour biomarkers separately based on estimates including (1) colon cancer only, (2) rectal cancer only, and (3) tumours at any sites in the colon and the rectum, obtaining pooled prevalence estimates described as “colon cancer”, “rectal cancer”, and “colorectal cancer”, respectively.
dOther caners include cancer of unknown primary, cancer of unknown primary-neuro, germ cell tumour, peritoneal cancer, and underspecified cancer.
See Supplementary Tables S7 and S10 for the number of records included in the analysis and the references.