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

Xu, Zu-Xin; Jiang, Li-Xin; Chen, Yu-Rui; Zhang, Yuhui; Zhang, Zhi; Yu, Pengfei; Dong, Zhi-Wei; Yang, Hai-Rui; Gu, Guo-Li

doi:10.3748/wjg.v29.i10.1627

Cited by 11 publications

(13 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This monitoring scheme is not the only one, Xu in a large series of 566 patients suggested monitoring by imaging (ultrasound, MRI, video-capsule) before the age of 10 and combines complete upper and lower endoscopic exploration from 10 years [ 6 ]. Indeed, polyp related symptoms usually arise by the age of 10 in 33 % of patients and by the age of 20 in 50 % of them [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…These surveillance schemes are not easy to follow due to their expensive, invasive and demanding nature especially in low-income countries. However, the majority of authors agree that the discovery of a polyp greater than or equal to one cm authorizes its endoscopic resection [ 1 , 2 , 6 ]. The European hereditary tumor group 2021 guidelines indicates endoscopic resection from 1.5 cm [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…This monitoring should not omit the risk of degeneration of the polyps which is evaluated between 2 and 10 % [ 1 , 6 , 7 ]. This risk increases with age and reaches 70 % by 60 years old [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Complications, treatment, and follow-up of peutz-jeghers syndrome: About 2 case reports

Ouadi

Brahim

Trigui

et al. 2023

International Journal of Surgery Case Reports

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Complications, treatment, and follow-up of peutz-jeghers syndrome: About 2 case reports

Ouadi

Brahim

Trigui

et al. 2023

International Journal of Surgery Case Reports

View full text Add to dashboard Cite

“…6 However, the author was skeptical about this, because there is little literature on PJS with testicular tumor; it is described only in case reports and no statistical analysis is available. In our medical center, no testicular canceration was found in a retrospective study involving 566 patients with PJS over a period of ∼28 years 58 . Therefore, PJS with testicular diseases is probably accidental.…”

Section: Cancer Risk Of Pjsmentioning

confidence: 93%

Cancer Risk of Peutz–Jeghers Syndrome and Treatment Experience: A Chinese Medical Center

2023

Clin Colon Rectal Surg

View full text Add to dashboard Cite

Peutz–Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems. Due to repeated hospitalization and endoscopic follow-up, PJS patients and their families suffer from great physical and mental pain and economic burden. With the in-depth understanding of PJS and the development and popularization of endoscopic techniques in the past decade, an integrated treatment modality based on endoscopy plus surgery has gradually become the preferred treatment in most hospitals, which greatly improves the quality of life of PJS patients. However, there is still a lack of effective drug prevention and cure means. In this paper, the current clinical treatment means for PJS polyps were summarized by literature review combined with the treatment experience of our medical center, with a focus on their clinical diagnosis, treatment, and cancer risk.

show abstract

“…In childhood, symptoms are mainly caused by polyp-related complications, including bleeding, anemia, and obstructive symptoms of the digestive tract. Patients with PJS have a substantial risk of developing diverse cancers in adulthood, most of which have an early onset [ 2 – 4 ]. By the age of 70, patients with PJS have a cumulative cancer incidence rate of 85% [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review

Yang,

Duan,

Xiong

et al. 2024

Hered Cancer Clin Pract

View full text Add to dashboard Cite

Background Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervical adenocarcinoma (G-EAC), a special subtype of cervical adenocarcinoma with non-specific symptoms and signs, is known to occur in approximately 11% of female patients with PJS. Case presentation Here, we report a case of PJS in a 24-year-old female with multiple mucocutaneous black macules who complained of vaginal discharge and menorrhagia. Moreover, we first described the multimodal ultrasonographical manifestations of PJS-correlated G-EAC. The three-dimensional reconstructed view of G-EAC on 3D realisticVue exhibited a distinctive “cosmos pattern” resembling features on magnetic resonance imaging, and the contrast-enhanced ultrasound displayed a “quick-up and slow-down” pattern of the solid components inside the mixed cervical echoes. We reported the multimodal ultrasonographical characteristics of a case of PJS-related G-EAC, as well as reviewed PJS-related literature and medical imaging features and clinical characteristics of G-EAC to provide insight into the feasibility and potential of utilizing multimodal ultrasonography for the diagnosis of G-EAC. Conclusions Multimodal ultrasound can visualize morphological features, solid components inside, and blood supplies of the G-EAC lesion and distinguish the G-EAC lesion from normal adjacent tissues. This facilitates preoperative diagnosis and staging of PJS-related G-EAC, thereby aiding subsequent health and reproductive management for patients with PJS.

show abstract

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

Cited by 11 publications

References 19 publications

Complications, treatment, and follow-up of peutz-jeghers syndrome: About 2 case reports

Complications, treatment, and follow-up of peutz-jeghers syndrome: About 2 case reports

Cancer Risk of Peutz–Jeghers Syndrome and Treatment Experience: A Chinese Medical Center

Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review

Contact Info

Product

Resources

About