Peutz-Jeghers syndrome and cancer: A retrospective study in 14 Japanese patients with Peutz-Jeghers syndrome

Masaya Iwamuro, Tatsuya Toyokawa, Yuki Moritou, Kazuhiro Matsueda, Shinichiro Hori, Masao Yoshioka, Takehiro Tanaka, Seiji Kawano, Hiroyuki Okada

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5 Citations (Scopus)


We retrospectively investigated 14 Japanese patients with Peutz-Jeghers (PJ) syndrome who were treated in six hospitals to determine the prevalence of cancer in Japanese patients with PJ syndrome. The study included seven males and seven females. The mean age at the time of diagnosis of PJ syndrome was 28.1 years (range 2-60 years). Hamartomatous polyps were observed in 13 (92.9%) patients, mucocutaneous pigmentation in 11 (78.6%), and positive family history in six patients (42.9%). The mean observation period after the diagnosis of PJ syndrome was 10.1 years (range 0-34 years). Although one patient died of cancer of unknown primary origin, the remaining 13 patients included in the study completed their last follow-up at each hospital. Cancers were detected in six patients (42.9%), including cancer of the uterine cervix (N=3), breast cancer (N=l), duodenal cancer (N=l), transverse colon cancer (N=l), and cancer of unknown primary origin (N=l). One patient presented with both cervical cancer and breast cancer. No patient presented with pancreatic cancer. This study highlights that patients with PJ syndrome are at high risk for intestinal and extra-intestinal cancers, such as uterine and breast cancer. Routine surveillance for intestinal and extraintestinal malignancies is warranted in patients with PJ syndrome.

Original languageEnglish
Pages (from-to)1015-1021
Number of pages7
JournalJournal of Japanese Society of Gastroenterology
Issue number12
Publication statusPublished - 2019

ASJC Scopus subject areas

  • Gastroenterology


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