Update on our investigation of malignant tumors associated with Peutz–Jeghers syndrome in Japan

Purpose To investigate the recent incidence of malignant tumors associated with Peutz–Jeghers syndrome (PJS) in Japan to clarify if there are any differences in malignant tumor risk and the spectrum of malignancies by reviewing the literature on this subject. Methods We reviewed PJS cases reported in 1115 papers in Japan between January, 1989 and December, 2014. Results Malignant tumors were identified in 186 of the total 583 PJS cases from 523 evaluable studies. The estimated cumulative risk of a malignant tumor was 83.0 % at 70 years of age. Compared with a previous study, on a collective 91 cases reported up until 1988 in Japan, the reported proportion of gastrointestinal malignancies decreased, from 82.4 to 48.3 %, whereas that of gynecological malignancies increased, from 8.8 to 34.3 % ( P < 0.01). Moreover, breast cancers were occasionally reported (4.8 %), even though none were reported in the previous study. Adenocarcinoma of the uterine cervix was the most common malignant tumor (46.8 %) among women with PJS. Conclusions The increased number of reports of cervical adenocarcinoma in women with PJS is the prominent trend in Japan, and a subject of concern among gynecologists. The risk of breast cancer seems to be increasing, but confirmation of this trend will require further investigation.