Knowing what you are up against can be a huge factor for success in any fight, and this is definitely the case in the fight against cancer. People are usually aware of at least a few lifestyle factors such as smoking or exposure to dangerous chemicals that can cause cancer, but beyond that, it can seem like cancer comes at you out of the blue. A rare minority of us, though, are literally born fighting against the odds when it comes to cancer. 

Chances are you have probably never heard of Peutz-Jeghers syndrome (PJS). After all, it is considered a rare condition that is only known to affect as few as 1 in every 200,000 people. This genetic condition is a serious concern to those who have it, though, with the lifetime risk of developing cancer running as high as 93% if you are born with this genetic mutation. 

What is Peutz-Jeghers Syndrome?

Peutz-Jeghers syndrome is an autosomal dominant mutation of a tumor suppressor gene that results in a startling increased risk of cancer. Breast, ovarian, testicular, and pancreatic cancer are all related to this mutation, but it is often diagnosed and monitored most effectively through growths and cancers that occur in the gastrointestinal tract. As a result, your gastroenterologist is going to be almost as important as your oncologist in keeping you healthy if you have been diagnosed with PJS. 

Family history is important in identifying your risk of this STK11/LKB1 gene mutation. If one of your parents had this serine/threonine kinase mutation, there is a 50% chance you have it as well. This is not the only source of the mutation, though, as 25% of people who are diagnosed with PJS have what are known as de novo STK11 mutations, or mutations that appear without genetic precedent in your family.

PJS and Cancer Risk

PJS is often first diagnosed in children, with symptoms being visible as early as eight years old. One of the first signs is the appearance of melanotic macules. This condition, also known as mucocutaneous pigmentation, results in dark blue spots or pigmented freckles appearing around the mouth or on the lips. These freckles can also appear on your fingers and toes. This pigmentation abnormality is most prominent in childhood and often fades by adulthood. 

What does not fade as the years pass is your increasing cancer risk if you are living with PJS. Though most people do not have to worry about colonoscopies until a few decades into life, people diagnosed with PJS often begin having regular colonoscopies and endoscopies as when they are eight years old.

The cancers associated with PJS can strike many different areas of the body, but the formation of hamartomatous polyps in the digestive tract is usually one of the first signs of concern. These growths of normal-looking tissue in the small intestine are often benign, but can cause problems in their own right if they become large enough to cause bowel obstruction. 

What Types of Cancer Can You Get if You Have PJS?

While having PJS is not a guarantee you will develop cancer, the risks are elevated that you will develop one of several different cancers during your lifetime. Some of the most common are listed below:

  • stomach cancer
  • ovarian cancer
  • breast cancer
  • lung cancer
  • esophageal cancer
  • pancreatic cancer
  • testicular cancer
  • uterine cancer
  • colorectal cancer
  • cervical adenoma malignum

Men and women are normally at different risks for different cancers, and people who have PJS are no exception. Women who have family members with Peutz-Jeghers syndrome should be on higher alert against breast cancer from a much younger age even if they have not shown other symptoms of PJS. If you have tested positive for this rare germline mutation, your rates of other malignancies such as ovarian cancer, adenomatous malignancies of the cervix, or sex cord tumors are greatly increased. 

Increases in the risk of breast cancer are among the highest you face if you are born with this genetic disorder. While it is possible for men to develop breast cancer, that doesn’t mean they are out of the woods. Higher rates of testicular cancer and gastrointestinal cancer still present a very real concern. 

Diagnosing Peutz-Jeghers Syndrome

Diagnosing PJS is typically done through genetic testing. Signs like the characteristic pigmentation around the mouth during childhood are also a good indication that you may be at a high cancer risk. Genetic testing is an important part of diagnosis, as PJS needs to be differentiated from other conditions like juvenile polyposis syndrome, which can also result in the formation of polyps in the gastrointestinal tract, but does not arise from the same mutation of the STK11 gene. 

If you have shown signs of the characteristic pigmentation associated with PJS, your doctor is going to want to take a look inside your digestive tract to evaluate your risk of developing further symptoms. Often, this will first involve a traditional or capsule endoscopy to give your doctor a chance to get a look at what is going on in your small bowel. It is also possible that your doctor may order a colonoscopy to get a better look at your digestive tract. 

Primarily, your doctor is going to be looking for hamartomas early on, but as you age, your doctor is going to be looking for other gastrointestinal polyps that could indicate you are at risk of developing colorectal cancer. With the risk of cancer only getting higher as the years pass, regular colonoscopies and endoscopies are important as you age. 

Can Peutz-Jeghers Syndrome Be Treated?

As a gene mutation you are born with, there is no way to cure Peutz-Jeghers syndrome. Treatment for this condition is focused around monitoring, diagnosing, and treating the individual types of cancer you are most likely to develop if you have PJS. There is little that can be done to prevent cancers from appearing, but lifestyle factors such as smoking that are known to increase your likelihood of getting cancer should be avoided.

The primary route for monitoring PJS is through regular upper endoscopies or colonoscopies. If any sort of growth is found in your small intestine, your gastroenterologist will likely want to perform a biopsy or even a polypectomy to check for malignancy and prevent bowel obstruction. 

Vigilance is the most important tool with this sort of cancer syndrome, especially early in life. Keeping to a regular schedule of upper endoscopies, colonoscopies to evaluate the large intestine, yearly pelvic examinations for women, and testicular examinations for boys are all recommended at higher rates and younger ages than for people in the general population. Characteristic freckling or the discovery of Peutz-Jeghers polyps, even if they are not malignant, will only underscore the importance of keeping an eye out for the more worrying manifestations of this disease.

Living with PJS

It may sound like living with a ticking time bomb to know you have PJS, but advances in modern medicine have greatly helped in the fight to detect and treat cancers earlier than ever. Early and effective diagnosis and treatment can increase survivability. Taking care of your body and staying up to date with exams and screenings can go a long way to helping you live well with PJS.

The ongoing coronavirus pandemic has created disruptions in many areas of life. Hospitals and clinics needing to postpone or reschedule non-emergent procedures is just one such disruption that has affected many people. Early diagnosis is essential when dealing with something as serious as cancer. For people who have been diagnosed with Peutz-Jeghers syndrome, waiting to get an upper endoscopy or other screening procedure performed is a risky roll of the dice. 

It is important to take the risk of COVID-19 seriously, but delaying diagnostic procedures or treatment is not a good idea. If you have been diagnosed with PJS, waiting until you are feeling abdominal pain is not a good way to evaluate your ongoing risk of cancer. 

At Cary Gastroenterology Associates, we know the importance of gastrointestinal health. We treat a wide variety of common conditions, and our well-trained staff is here to help with rare cases as well. Whether it is a life-long condition like PJS or a routine colon cancer screening, we are here for you. Request an appointment today to find out how we can help.