Table 1.
Case | Sex | Age | Primary tumour site | Metastases | SDH status | Germline mutation | Tumour epi-mutation | Other tumours |
---|---|---|---|---|---|---|---|---|
001 | F | 21 | Gastric | Liver nodal peritoneal | dSDH | No | SDHC epimutation | No |
002 | M | 37 | Gastric | Liver, peritoneal | dSDH | SDHB c.137G > A, p.(Arg46Gln) | No | Carotid PGL |
003 | F | 31 | Gastric | Liver, peritoneal | dSDH | SDHA (c.1909 2A > G) | No | No |
004 | M | 39 | Gastric | Liver, peritoneal | dSDH | No | No | No |
005 | F | 15 | Gastric | Liver, peritoneal | dSDH | SDHA c.91C > T p.(Arg31Ter) | Yes | No |
006 | M | 68 | Gastric | Liver | dSDH | SDHD c.296delT p.(Leu99fs) | No | No |
007 | M | 21 | Gastric | Liver | dSDH | SDHA c.91C > T p.(Arg31Ter) | No | No |
008 | F | 33 | Gastric | Liver | dSDH | No | NA | No |
009 | M | 73 | Gastric | Liver nodal | dSDH | Variant of uncertain significance in SDHA | No | No |
010 | M | 60 | Small bowel | Liver | cSDH | No | No | No |
011 | M | 63 | Small bowel | Liver | cSDH | No | No | No |
012 | F | 15 | Gastric | Mediastinal mass | dSDH | No | SDHC epimutation | Mediastinal mass |
NA = not available