Conditions/Hereditary Cancers/Chapter
Peutz–Jeghers Syndrome
STK11, hamartomatous polyps, and cancer surveillance
Peutz–Jeghers syndrome (PJS) is linked to STK11 germline changes. Hamartomatous polyps (often small bowel), characteristic mucocutaneous pigmentation, and raised GI/extra-GI cancer risk frame the syndrome. Surgery is often driven by obstruction, intussusception, or bleeding rather than “clear every polyp in one operation.”
Key points
- Clinical cluesTap for details
Recurrent small-bowel polyps/intussusception, typical pigmentation, family PJS history, or a known STK11 mutation open evaluation.
- Surgical roleTap for details · key note inside
Goals focus on treating complications while preserving intestine. A single “finish all polyps” operation is rarely realistic.
- Surveillance and familyTap for details
Organ-specific surveillance intervals follow guidelines and counseling. Cascade testing is offered to relatives.
- ImportantTap for details · key note inside
This page is for education. It is not medical advice and does not replace a visit with your physician.
Frequently asked questions
- Are freckles around the mouth always PJS?Tap for details
No. Diagnosis needs clinical context plus counseling/genetic confirmation when indicated.
- Can one surgery remove all polyps?Tap for details
Usually not. Endoscopy and surgery are sequenced to treat complications while preserving bowel length.
More chapters in this hub
Hereditary Cancer Overview
When hereditary risk is considered and how sequencing works
Lynch Syndrome
MMR/MSI, colorectal risk, and family screening
BRCA and Familial Breast Risk
Who is offered testing; surgery and surveillance frame
FAP
Polyposis, APC, and surgical timing
CDH1
Hereditary diffuse gastric cancer risk
Li-Fraumeni Syndrome
TP53 and multi-cancer spectrum
Genetic Counseling
Consent, results, and talking with relatives
Molecular Testing in Cancer
Organ-specific biomarkers that often open this conversation
Appointment / info
This page is for education. It is not medical advice and does not replace a visit with your physician.
Medical editor: Assoc. Prof. Cengiz Dibekoğlu, MD · Last medically reviewed: August 2026 · English patient-education chapter.