Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome - Experience with 566 Chinese cases

Q: What patient cohort and period were included in this study?

The study retrospectively summarized 566 PJS cases admitted to the Air Force Medical Center from January 1994 to October 2022.

Q: How did the study describe the timing from mucocutaneous pigmentation to symptoms?

Median time to mucocutaneous pigmentation was 2 years, and median time from pigmentation to abdominal symptoms was 10 years.

Q: What were the main age-related risks reported for PJS?

The cumulative risk of intussusception increased with age (about 72.0% at 40 and 89.6% at 50). The cumulative risk of cancer also increased with age (about 49.3% at 50 and 71.7% at 60).

Sep 24, 2026

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Peutz-Jeghers syndrome (PJS) is a rare inherited disorder characterized by pigmented spots on the lips and mucous membranes and extremities, gastrointestinal polyps, and an increased susceptibility to tumors; effective prevention and cure remain insufficient. This retrospective study summarizes experience from a Chinese medical center using data from 566 PJS patients, focusing on clinical features, diagnostic approach, and treatment outcomes, and analyzes key timing, polyp distribution, endoscopy use, complications, and age-related risks.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages12

Reading Time30 min

AccessFree to download

Abstract

Background

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| W | J | G | World Journal of
Gastroenterology | | --- | --- | --- | --- | Submit a Manuscript: [https://www.f6publishing.com](https://www.f6publishing.com) World J Gastroenterol 2023 March 14; 29(10): 1627-1637 DOI: 10.3748/wjg.v29.i10.1627 ISSN 1007-9327 (print) ISSN 2219-2840 (online) ORIGINAL ARTICLE Retrospective Study Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases Zu-Xin Xu, Li-Xin Jiang, Yu-Rui Chen, Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang, Guo-Li Gu Specialty type: Gastroenterology and hepatology Provenance and peer review: Unsolicited article; Externally peer reviewed. Peer-review model: Single blind Peer-review report’s scientific quality classification Grade A (Excellent): 0 Grade B (Very good): B, B Grade C (Good): 0 Grade D (Fair): 0 Grade E (Poor): 0 P-Reviewer: Awai K, Japan; Sjoblom T, Sweden Received: December 12, 2022 Peer-review started: December 12, 2022 First decision: January 11, 2023 Revised: January 17, 2023 Accepted: February 16, 2023 Article in press: February 16, 2023 Published online: March 14, 2023 Zu-Xin Xu, Fifth Clinical College of Anhui Medical University, Air Force Clinical College of Anhui Medical University, Beijing 100142, China Li-Xin Jiang, Yu-Rui Chen, Air Force Clinical College of China Medical University, Beijing 100142, China Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang, Guo-Li Gu, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China Corresponding author: Guo-Li Gu, FRCS (Gen Surg), Chief Doctor, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, No. 30 Fucheng Road, Haidian District, Beijing 100142, [China.](China. kzggl@163.com)[ kzggl@163.com](China. kzggl@163.com) Abstract BACKGROUND Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment. AIM To explore the clinical features, diagnosis, and treatment of PJS in a Chinese medical center. METHODS The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized. A clinical database was established covering age, gender, ethnicity, family history, age at first treatment, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, quantity, and diameter, frequency of hospitalization, fre-quency of surgical operations, etc. The clinical data was retrospectively analyzed using SPSS 26.0 software, with P < 0.05 considered statistically significant. WJG [https://www.wjgnet.com](https://www.wjgnet.com) 1627 March 14, 2023 Volume 29 Issue 10 Xu ZX et al. Diagnosis and treatment of Chinese PJS patients RESULTS Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and

FAQs

What patient cohort and period were included in this study?

The study retrospectively summarized 566 PJS cases admitted to the Air Force Medical Center from January 1994 to October 2022.

How did the study describe the timing from mucocutaneous pigmentation to symptoms?

Median time to mucocutaneous pigmentation was 2 years, and median time from pigmentation to abdominal symptoms was 10 years.

What were the main age-related risks reported for PJS?

The cumulative risk of intussusception increased with age (about 72.0% at 40 and 89.6% at 50). The cumulative risk of cancer also increased with age (about 49.3% at 50 and 71.7% at 60).

Sep 24, 2026

Uploaded by Jiven