Histology and molecular features of gastric cancers from patients with hereditary non-polyposis colorectal cancer with germline mutations in DNA mismatch repair genes
| ID # (criteria) | Histology | MMR gene germline mutation | MLH1 LOH | Immunohistochemistry | MSI status | APC LOH | β-catenin IHC/mutation | p53 IHC | KRAS/BRAF mutation | Repeat containing genes | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MLH1 | MSH2 | MSH6 | PTEN | ACVR2 | BLM | MBD4 | TGFβRII | MRE11A | |||||||||
| A, Amsterdam criteria I or II; APC, adenomatous polyposis coli; B, Bethesda criteria; IHC, immunohistochemistry; LOH, loss of heterozygosity; LOH?, putative LOH; MSI, microsatellite instability; MMR, DNA mismatch repair; MSS, microsatellite stable; Mem, membranous; N, normal; ND, not done; NI, not informed; Nuc, nuclear; U, unstable. | |||||||||||||||||
| 1:32 (A) | Intestinal | MLH1 exon 16 deletion36 | N | – | + | + | MSI | N | Mem/N | Negative | N/N | N | U | N | U | U | U |
| 1:80 (A) | Intestinal | MLH1 exon 16 deletion36 | LOH | – | + | + | MSI | LOH? | Mem/N | Positive (60%) | N/N | N | U | N | N | N | U |
| 3:39 (A) | Intestinal | MLH1 exon 16 deletion36 | LOH | – | + | + | MSI | N | Nuc/N | Negative | N/N | N | U | N | U | U | U |
| 4:4 (A) | Intestinal | MLH1 exon 3–5 deletion73 | N | – | + | + | MSI | LOH | Nuc/ND | Negative | N/N | N | U | ND | ND | N | U |
| 7:18 (A) | Intestinal | MLH1 exon 17, G→C at 1976, R659P73 | LOH? | ND | ND | ND | MSI | N | ND/N | ND | G12D/N | N | U | N | N | U | U |
| 73:1 (A) | Intestinal | MLH1 exon 3, C→T at 298, R100X29 | LOH | ND | ND | ND | MSI | LOH | ND/ND | ND | N/N | N | U | N | ND | U | U |
| 83:18 (A) | Intestinal | MLH1 exon 17, C→T at 1975, R659X73 | N | – | + | + | MSI | N | Mem/N | Negative | N/N | N | U | N | N | U | U |
| 83:45 (A) | Intestinal | MLH1 exon 17, C→T at 1975, R659X73 | NI | – | + | + | MSI | N | Mem/N | Negative | N/N | N | U | N | N | N | U |
| 90:60 (A) | Intestinal | MLH1 intron 5, G→A at 454–136 | NI | – | + | + | MSI | N | Mem/N | Negative | N/N | N | U | N | N | U | U |
| 122:1 (B) | Intestinal | MSH2 exon 12, G→A at 1807, D603N33 | NI | + | + | – | MSI | NI | Mem/ND | Positive (20%) | N/N | N | U | N | N | U | U |
| 130:1 (A) | Intestinal | MSH2 exon 11, C→T at 1720, Q574X | NI | ND | ND | ND | MSI | LOH? | ND/N | ND | N/N | N | U | N | N | U | U |
| 12:20 (A) | Intestinal/mucinous | MLH1 exon 16 deletion36 | N | – | + | + | MSI | N | Mem/N | Negative | N/N | N | U | N | N | N | U |
| 67:15 (A) | Diffuse | MLH1 exon 4, T>G at 320, I107R73 | NI | – | + | + | MSI | LOH? | Mem/N | Negative | N/N | N | U | N | N | N | N |