Peutz-Jeghers Syndrome Clinical Management and Genetic Insights

Peutz–Jeghers syndrome is a rare autosomal dominant disorder marked by mucocutaneous pigmentation and hamartomatous polyps throughout the gastrointestinal tract, underpinned by pathogenic variants in the STK11 tumour suppressor gene. Clinical management focuses on early detection and removal of polyps to forestall complications such as intussusception, bleeding and bowel obstruction. Surveillance protocols typically combine endoscopic techniques—oesophagogastroduodenoscopy, colonoscopy and small‐bowel imaging—with cross‐sectional modalities to detect neoplastic transformation. The lifetime risk of gastrointestinal and extra‐intestinal malignancies can exceed 90 %, necessitating tailored screening regimens for breast, pancreatic, gynaecological and lung cancers. On the genetic front, advances in next‐generation sequencing have refined the spectrum of STK11 mutations, revealing correlations between mutation class and phenotype severity. Emerging data suggest that null variants predispose to earlier symptom onset and more aggressive polyp formation, while missense changes exhibit a milder course. Integrating genotype–phenotype insights into clinical pathways promises more personalised surveillance intervals and intervention thresholds. Multidisciplinary care—spanning gastroenterology, genetics, surgery and oncology—is essential to optimise outcomes and quality of life for individuals and at‐risk relatives, with genetic counselling underpinning family screening and risk reduction strategies.

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Technical terms

Hamartomatous polyp: A benign, disorganised overgrowth of native tissue elements common in Peutz–Jeghers syndrome.

STK11: A tumour suppressor gene encoding a serine/threonine kinase; its loss of function underlies Peutz–Jeghers syndrome.

Mucocutaneous pigmentation: Dark freckle‐like spots on lips, oral mucosa and digits, an early clinical hallmark of the syndrome.

Intussusception: Telescoping of one bowel segment into another, often precipitated by a pedunculated polyp, leading to obstruction.

Genotype–phenotype correlation: The relationship between specific genetic variants (genotype) and the observable clinical presentation (phenotype).

References

1. The Management of Peutz–Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline †. Journal of Clinical Medicine (2021).
2. Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers. Cancers (2021).
3. High risk and early onset of cancer in Chinese patients with Peutz-Jeghers syndrome. Frontiers in Oncology (2022).
4. Clinical and Genetic Analyses of 38 Chinese Patients with Peutz‐Jeghers Syndrome. BioMed Research International (2020).