What are other Names for this Condition? (Also known as/Synonyms)

• Hamartomatous Intestinal Polyposis
• Periorificial Lentiginosis Syndrome
• Polyps-and-Spots Syndrome

What is Peutz-Jeghers Syndrome? (Definition/Background Information)

• Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant condition that increases one’s susceptibility to developing polyps and certain malignancy types. PJS is a cancer predisposition syndrome. It is associated with a mutation in the STK11 gene
• Polyps associated with Peutz-Jeghers Syndrome typically occur in the small intestine (in 95% of the cases), typically termed hamartomatous polyps. In the remaining number of cases, PJS manifest as polyps in the large intestine (colon) and stomach. The polyps generally develop at a young age, before one reaches adolescence or early adulthood
• Some common signs and symptoms associated with Peutz-Jeghers Syndrome include the presence of intestinal polyps, abdominal pain, vomiting, and changes in breast tissue texture. PJS is also characterized by dark macules in the mucosal regions such as the mouth, eyes, nostrils, and anus
• Peutz-Jeghers Syndrome is generally diagnosed through symptom assessment and genetic testing. The detection of gastrointestinal cancers may include imaging studies (colonoscopy). Breast cancer can be diagnosed with mammograms and tissue biopsies
• Some possible complications of Peutz-Jeghers Syndrome include the development of highly malignant tumors, anemia from chronic bleeding, and treatment-associated side effects
• The treatment of Peutz-Jeghers Syndrome may involve surgery (to remove benign and malignant tumors) and other modalities such as radiation therapy and chemotherapy. The overall outcomes depends on the type and severity of the associated cancer, which can vary from one individual to another

Who gets Peutz-Jeghers Syndrome? (Age and Sex Distribution)

• Peutz-Jeghers Syndrome (PJS) is a relatively rare condition with an incidence of approximately 1 case per 50,000-200,000 births
• The condition is congenital in nature (present at birth), but polyp formation is observed into adolescence and young adulthood. Around 35% of the individuals present them before age 10
• There does not appear to be any gender predilection. However, the possibility of developing cancers as a result of PJS is higher in females
• There is no preference for any specific racial/ethnic group, or a geographic distribution bias noted

What are the Risk Factors for Peutz-Jeghers Syndrome? (Predisposing Factors)

• Having a family history of Peutz-Jeghers Syndrome is a significant risk factor for the condition
• Exposure to certain carcinogens including tobacco smoking and radiation exposure

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Peutz-Jeghers Syndrome? (Etiology)

Peutz-Jeghers Syndrome (PJS) is a genetic condition that is inherited in an autosomal dominant manner.

• It is largely caused by mutations in the STK11 gene. The STK11 gene is a tumor suppressor gene that is involved in regulating cell division and cell death (apoptosis). It works in association with p53, a significant tumor suppressor protein. Mutations in the STK11 gene can lead to uncontrolled cell growth in the body
• The risk of passing an abnormal STK11 gene from an affected parent to an offspring is 50% for each child. Around 80-94% of individuals with Peutz-Jeghers Syndrome have been found to have a mutation in the STK11 gene. In the remaining cases, the gene involved in PJS remains unidentified, and hence the cause of development of the syndrome is unknown

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Peutz-Jeghers Syndrome?

The signs and symptoms associated with Peutz-Jeghers Syndrome may vary in severity and type from one individual to another. It may include:

• Polyps in the small intestine are most commonly noted. Most of the polyps that form are generally benign
• The other regions where polyps may develop include the stomach, colon, gallbladder, urinary bladder, lungs and nose
• Vomiting
• Diarrhea
• Abdominal pain that may be severe
• Intestinal bleeding
• Anemia from chronic bleeding
• Intestinal obstruction
• Mucocutaneous pigmentation; skin lesions (macules) may form around the mouth and anus. They may be also present on mucosal surfaces such as in the mouth (on the cheeks), inside the nose, the eyes, and the anus. These macules may be dark blue to brown in coloration 

After the gastrointestinal tract (intestines and stomach), the second-most common malignancy site for Peutz-Jeghers Syndrome in females is the breast. The other sites where cancer may develop include the pancreas, lung, and in females, the uterine cervix, uterus, and ovary.

• Malignancy in the GI tract may cause significant signs and symptoms
• If malignancy is noted in the breast, it may cause:
  • Thickening of a part of the breast
  • New area of fullness in the breast
  • Change in texture or appearance of the breast such as dimpling or thickening 
  • Inverted nipple
  • Bloody discharge from nipple
  • Pain in breast

How is Peutz-Jeghers Syndrome Diagnosed?

The following can be used to diagnose Peutz-Jeghers Syndrome:

• Complete physical exam and evaluation of family medical history
• Molecular genetic testing

The following are diagnostic tools that may be used for intestinal polyps and malignancies:  

• Abdominal ultrasound
• Colonoscopy
• Upper GI endoscopy
• CT and MRI scans
• Tissue biopsy

The following methods are commonly used to diagnose Breast Cancer: 

• Mammogram
• Blood tests, as suitable
• Breast ultrasound
• CT and MRI scan; PET scans
• Breast biopsy

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the Possible Complications of Peutz-Jeghers Syndrome?

Individuals with Peutz-Jeghers Syndrome may experience the following possible complications, typically from the various benign and malignant tumors that form at various sites:

• Severe anemia from blood loss
• Benign ovarian tumor (SCTAT)
• Sertoli cell carcinoma
• Development of secondary cancers in the breast, ovaries, uterus, and cervix, apart from the small and large intestines and stomach
• Metastasis of the malignancy to various local and distant regions/ organs, severely affecting the functioning of the organs
• Surgical complications associated with the removal of polyps
• Increased sensitivity to radiation and external carcinogens
• Side effects from treatment of the malignant tumors

How is Peutz-Jeghers Syndrome Treated?

The following methods may be used to treat Peutz-Jeghers Syndrome and the resulting cancers based on evaluation of the condition by the healthcare provider. In severe cases, medical experts from various specialties may be involved in the treatment and care of the patient.

The treatment measures may broadly involve:

• Surgical removal of the polyps
• Complete surgical excision of the malignant tumors, where feasible
• Laser treatment of melanocytic macules
• Radiation therapy
• Chemotherapy
• Hormone therapy

Regular observation and periodic checkups to monitor the condition is highly recommended following treatment.

How can Peutz-Jeghers Syndrome be Prevented?

It is not possible to completely prevent Peutz-Jeghers Syndrome because it is a hereditary condition.

• However, one can take certain preemptive measures to be on the lookout for the development of malignancies through regular healthcare checkup, self-exams, annual MRIs, and screening procedures
• In general, it is also important to maintain a healthy lifestyle and take measures to prevent unnecessary exposure to environmental carcinogens
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child

What is the Prognosis of Peutz-Jeghers Syndrome? (Outcomes/Resolutions)

• Individuals with Peutz-Jeghers Syndrome (PJS) are at a higher risk of developing certain cancer types, especially involving the gastrointestinal tract and the breast. Therefore, it is important to be screening for the cancer early on
• The overall prognosis of PJS depends on a variety of factors and may vary from one individual to another. Some studies have shown a higher cancer mortality in individuals with this genetic disorder
• Currently, new and improved treatments are helping to increase the longevity of individuals with cancer. Nevertheless, cancer recurrence or spread to other areas of the body even with proper treatment, can take place
• In general, the following factors may be used to determine each individual’s prognosis:
  • Type of cancer noted
  • Stage of the cancer
  • Location and size of the tumor
  • Cell growth rate
  • Likelihood of cancer returning
  • Age of the individual

Additional and Relevant Useful Information for Peutz-Jeghers Syndrome:

The following article link will help you understand other cancers and benign tumors:

http://www.dovemed.com/diseases-conditions/cancer/