"Peutz-Jeghers Syndrome" – What Is It?
Peutz-Jeghers syndrome (PJS) is a disease caused by mutations, i.e., genetic changes in the STK11 gene. The appearance of polyps in the gastrointestinal tract and typical pigment spots on the skin and mucous membranes characterize it. There is also an increased risk of cancer.
How Is "Peutz-Jeghers Syndrome" Diagnosed?
Suspected Diagnosis
Peutz-Jeghers syndrome is suspected when the following findings are present
- ≥2 Peutz-Jeghers syndrome (PJS) type polyps in the gastrointestinal tract
- Characteristic dark blue to dark brown pigment patches on the skin or mucous membranes.
- Enlargement of the mammary gland in men due to oestrogen-producing testicular tumours
- e.g., intussusception (invagination of one bowel segment into another), especially in children or young adults
Genetic Diagnostics
The diagnosis of Peutz-Jeghers syndrome is confirmed by detecting a mutation, a genetic change in the STK11 gene.
Diagnostic criteria
The diagnosis of “Peutz-Jeghers syndrome” is confirmed by genetic evidence of a mutation of the STK11 gene or one of the following findings:
- ≥2 histologically confirmed polyps of the PJS type
- Any number of PJS-type polyps in a person with at least one close relative with PJS
- Characteristic dark blue to dark brown pigmentation on skin or mucous membranes in a person with at least one close relative with PJS
- Any number of PJS-type polyps in a person with characteristic dark blue to dark brown pigmentation
What Is the Risk of Cancer?
Peutz-Jeghers syndrome is characterized by the common occurrence of polyps in the gastrointestinal tract and a typical dark blue to dark brown pigmentation on the skin and mucous membranes. The risk of cancer in and outside the gastrointestinal tract is significantly increased.
Cancer Diseases
Below are the risk and average age of onset for the cancers known to be associated with Peutz-Jeghers syndrome.
| Place of manifestation | Risk | Age of manifestation |
|---|---|---|
| Large intestine | 39% | 42 – 46 years |
| Stomach | 29% | 30 – 40 years |
| Small intestine | 13% | 37 – 42 years |
| Chest | 32% – 54% | 37 – 59 years |
| Ovary | 21% | 28 years |
| Cervix | 10% | 34 – 40 years |
| Uterus | 9% | 43 years |
| Pancreas | 11% – 36 % | 51 – 52 years |
| Testicles | 9 % | 6 – 9 years |
| Lung | 7% – 17 % | 47 years |
Polyps
Polyps can occur throughout the gastrointestinal tract but are most common in the small intestine. They can also occur outside the gastrointestinal tract (renal pelvis, urinary bladder, ureter, lungs, nose, and gall bladder). The malignant potential is still unknown. Polyps can cause complications such as intestinal obstructions, rectal prolapse, or severe gastrointestinal bleeding. The average age at which the first symptoms appear is 10 years; the first removal of polyps (polypectomy) is performed on average at the age of 13.
Mucocutaneous Pigmentation
The characteristic dark blue to dark brown pigmentation spots rarely present at birth and usually develops by age 5. The pigmentation fades during puberty and adulthood. They tend to appear around the mouth, on the eyes and nostrils, on the cheek mucosa, and around the anal region. Pigment spots on the fingers are also common. There is no cancer risk associated with these characteristic pigmentations.
Gonadal Tumors
Female PJS patients have an increased risk of ovarian and fallopian tube tumors. These usually occur on both sides and are benign.
Male PJS patients have an increased risk of testicular tumors. These are tumors that can release estrogen and are usually benign.
What Is Known About the Development of "Peutz-Jeghers Syndrome" ?
Peutz-Jeghers syndrome is caused by a mutation, i.e., a genetic change in the STK11 gene. This gene codes for the STK11 protein, which acts as a tumor suppressor to ensure that the development of tumor cells is suppressed. If the STK11 gene is present in an altered form, the STK11 protein is no longer produced correctly and, therefore, cannot function as a tumor suppressor. This leads to the development of polyps and tumors.
Peutz-Jeghers syndrome is usually passed on from parents to their children. The inheritance is autosomal dominant. The remaining cases (around 25%) are due to a spontaneous or new mutation, known as a de novo mutation.
Is There Any Form of Treatment Available?
Polyps with a size of >1cm should be removed as a precautionary measure to prevent subsequent complications and reduce the risk of transformation into a malignant tumor.
Cancer should be treated according to the appropriate protocols.
Diagnosis of " Peutz-Jeghers Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of "Peutz-Jeghers Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
The AACR 2024 guidelines recommend following specific surveillance measures:
Gastrointestinal Tract
- Gastroscopy, video capsule endoscopy, or magnetic resonance enterography and colonoscopy at 8 years (or earlier if symptomatic)
- Polyps present -> repeat every 3 years
- No polyps -> repeat at 18 years
- Families should be educated to recognize the signs and symptoms of intussusception and to seek urgent care promptly is essential when these signs and symptoms are observed
- Intussusception is a medical condition where one part of the intestine folds into another part of the intestine, much like how a telescope slides into itself. This can cause a blockage, preventing food and fluids from passing through the digestive system. It can also reduce blood supply to the affected area, leading to severe complications if not treated promptly.
Gonads, Breast, Ovaries, Uterus and Cervix
- Annual physical exams should assess:
- Linear growth
- Breast tissue development
- Testicular volume
- For female patients with Peutz-Jeghers syndrome (PJS) experiencing precocious puberty:
- A pelvic ultrasound is recommended to check for any masses
- Referral to an endocrinologist should be made
- Screening for the following malignancies in adulthood should start at age 25 or older. Patients with PJS are at increased risk for:
- Breast cancer
- Gynecologic cancer
- Pancreatic cancer
- Lung cancer
Peutz-Jeghers Syndrome – What You Can Do Yourself
You Should Pay Attention to This
People with this tendency to colorectal cancer should be treated at a center that offers early detection.
Regardless of the screening examinations, you should consult a doctor as soon as you experience gastrointestinal tract symptoms. These can be blood or mucus discharge from the bowel, stool abnormalities such as diarrhea or constipation, flatulence, or pain. However, non-specific signs such as weight loss should also be noticed and reported to a doctor so that colon cancer can be investigated.
You should also consult a doctor if you have any other new abnormalities or complaints, e.g., abdominal pain, abdominal pain, or palpable lumps on the breast.
Further Information
Patients can also register for the CPS registry at any time or have this done by their doctors in charge.
Any further questions?
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