4.5 Article

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study

Related references

Note: Only part of the references are listed.
Article Gastroenterology & Hepatology

Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome

Anna Byrjalsen et al.

Summary: PGT-M can be offered to patients with PJS, but the process can be challenging and requires motivation and persistence from patients.

SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2023)

Article Gastroenterology & Hepatology

Long-term yield of pancreatic cancer surveillance in high-risk individuals

Kasper A. Overbeek et al.

Summary: The study aimed to determine the long-term yield of pancreatic cancer surveillance in hereditary high-risk individuals. Results showed substantial diagnostic yield in high-risk mutation carriers, but non-existent in mutation-negative familial pancreatic cancer (FPC) kindreds. Challenges in timely identification of resectable lesions were encountered despite concurrent use of EUS and MRI/MRCP, with the need for more sensitive diagnostic markers, including biomarkers, highlighted.
Article Gastroenterology & Hepatology

Timeline of Development of Pancreatic Cancer and Implications for Successful Early Detection in High-Risk Individuals

Kasper A. Overbeek et al.

Summary: Understanding the timeline and morphologic features of pancreatic cancer progression is crucial for successful imaging-based surveillance. Researchers found that nearly half of high-risk individuals with high-grade dysplasia or pancreatic cancer did not have prior lesions detected by imaging, suggesting the need for more sensitive diagnostic tools.

GASTROENTEROLOGY (2022)

Article Oncology

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

Anne Marie Jelsig et al.

Summary: Peutz-Jeghers syndrome is a hereditary polyposis syndrome characterized by Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for cancer. Detection of STK11 mosaicism in Danish patients suggests that mosaicism may be common and should be considered in patients with suspected PJS or those meeting diagnostic criteria.

FAMILIAL CANCER (2021)

Review Medicine, General & Internal

The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline

Anja Wagner et al.

Summary: Scientific data on the management of Peutz-Jeghers syndrome (PJS) is limited, necessitating more collaborative studies for better understanding of this rare condition. Current guidelines only cover gastrointestinal and pancreatic management, leaving other aspects in need of further research and discussion.

JOURNAL OF CLINICAL MEDICINE (2021)

Review Gastroenterology & Hepatology

Peutz-Jeghers syndrome: a systematic review and recommendations for management

A. D. Beggs et al.

Article Gastroenterology & Hepatology

Cancer risks in LKB1 germline mutation carriers

H Mehenni et al.

Article Oncology

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

Nicholas Hearle et al.

CLINICAL CANCER RESEARCH (2006)

Article Genetics & Heredity

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome

E Volikos et al.

JOURNAL OF MEDICAL GENETICS (2006)