Characteristics of Peutz-Jeghers syndrome patients with pancreatic cancer (A) and with distal bile duct cancer and ampullary cancer (B)
| Germline LKB1 mutation in patient (germline LKB1 mutation in family) | Age at diagnosis (year of diagnosis) | Age at death | Type of cancer | Confirmation | Location tumour | Distant metastases | Other malignancy in medical history (year of diagnosis) | |
|---|---|---|---|---|---|---|---|---|
| (A) | ||||||||
| 1. | + (+)* | 35 (1998) | 35 | Adenocarcinoma | HI | Head | Yes | No |
| 2. | NT (c.370A>T, p.Lys124X) | 57 (1994)† | 58 | Adenocarcinoma | HI | Head | Yes | Unknown |
| 3. | NT (c.468C>G, p.Tyr156X) | 66 (1998) | 68 | Adenocarcinoma | HI | Head | Yes | Colon cancer pT2NxMx (1996) |
| 4. | c.991dupC, p.Arg331fs | 36 (1997) | 36 | Adenocarcinoma | HI | Head | Yes | No |
| 5. | c.582C>A, p.Asp194Glu | 45 (2008) | 46 | Acinar cell carcinoma | HI | Tail | Yes | Liposarcoma (1992) |
| 6. | Deletion exon 6, 7 and 8 | 54 (2004) | 54 | Adenocarcinoma | MR | Head | Yes | No |
| 7. | − (−) | 62 (2005) | 62 | Adenocarcinoma | HI | Head | Yes | No |
| (B) | ||||||||
| 1. | c.156_157dupGG, p.Asp53fs | 57 (2006) | 57 | Bile duct cancer | HI | Distal bile duct | Yes | No |
| 2. | NT (unknown) | 73 (2008) | 74 | Bile duct cancer | HI | Distal bile duct | Yes | No |
| 3. | c.291-2A>G, p.98_155del | 53 (2006) | 58 | Ampullary NET | HI | Ampulla | Yes | Non-Hodgkin lymphoma grade 3 (2001) |
| 4. | c.735-1G>A, p.? | 41 (2000) | – | Dysplastic hamartoma near the ampulla with invasive growth in the ampulla | HI | Ampulla | No | No |
*Specific LKB1 germline mutation unknown.
†Occurred in retrospective follow-up period.
F, female; HI, histology; M, male; MR, medical record; NET, neuroendocrine tumour; NT, not tested; +, proven germline LKB1 mutation; −, tested but no germline mutation detected.