Total | 144 |
Gender | |
Male | 70 (49%) |
Female | 74 (51%) |
Families | 61 |
Family history | |
Familial PJS | 109 (76%) |
Sporadic | 24 (17%) |
Family history unknown | 11 (7%) |
Fulfilling WHO criteria* | 142 (99%) |
DNA mutation analysis | 92 (64%) |
LKB1 mutation carrier | 82/92 (89%) |
Deceased | 48 (33%) |
Median age at death | 46 years (IQR 32–58 years) |
Lost to follow-up | 6 (4%) |
Cancer | 48 (33%) |
Median age at diagnosis of first cancer | 46 years (IQR 35–55 years) |
2 primary cancers | 8 |
*Two patients not fulfilling the WHO criteria carry a proven LKB1 germline mutation.
PJS, Peutz-Jeghers syndrome.