INTRODUCTION
The purpose of this booklet is to provide information about an inherited type of colon cancer, Peutz-Jeghers Syndrome. The information provided is intended to add to, and is not a substitute for, discussions with doctors, genetic counselors, nurses, and other members of the health care team.
We encourage you to read the entire booklet in the order in which it was written, since each section is built upon information in preceding sections. We emphasize the need for regularly scheduled, thorough medical examinations for persons who already have had colorectal cancer. Equally important, relatives at risk for this condition need to have regular examinations.
For additional information you are encouraged to contact your own personal health care provider or the Hereditary Colorectal Cancer Registry at the Johns Hopkins Hospital, (410) 955-3875 or toll free 1-888-77COLON (1-888-772-6566).
WHAT ARE POLYPS?
Polyps are abnormal, mushroom-like growths. When found in the gastrointestinal tract, they can occur inside the colon (large intestine, large bowel) or in the stomach and small intestine (small bowel). Polyps vary in size from less than 1/10 of an inch to 1-2 inches. They may be so large as to block part of the intestine. In some people polyps may be inherited, while in others they are not inherited.
WHAT IS THE GASTROINTESTINAL TRACT?
The gastrointestinal digestive tract is a hollow tube that begins at the mouth and ends at the anus. It has several parts including the esophagus, stomach, small intestine and colon (large intestine). Its total length is about 28 feet.
WHAT IS PEUTZ-JEGHERS SYNDROME (PJS)?
Peutz-Jeghers Syndrome (PJS) is a condition in which polyps are inherited because of a change in a gene. The polyps that develop in people affected with PJS are hamartomatous polyps. The term hamartoma refers to normal tissue types arranged in an abnormal fashion. Hamartomas themselves are not cancerous. The hamartomatous polyps occur mostly in the small intestine (small bowel) but can also develop in the stomach and colon. These polyps usually begin to form during childhood, but often symptoms do not develop for years.
The diagnosis of Peutz-Jeghers Syndrome can be made if a person has 2 or more of the Peutz-Jeghers type polyps (hamartoma) or if a person has 1 hamartomatous polyp in the GI tract and a family history of the condition.
The major concern in this condition is that the polyps can become cancerous. Individuals with PJS have an increased risk for cancer of the duodenum (the first part of the small intestine), colon, stomach, and pancreas. Also, other cancers can occur in families with PJS. They include cancer of the breast, ovaries, endometrium (uterus), and rare cancers of the cervix in women and testes in young boys.
HOW IS PJS INHERITED?
People with Peutz-Jeghers Syndrome have a 50% chance of passing the condition on to each of their children (see diagram p. ). Individuals who are not affected with PJS cannot pass it to their children.
Some individuals with Peutz-Jeghers Syndrome do not have a family history of PJS. These individuals, who are the first in their family to have the condition, are referred to as having a new mutation (newly altered gene). They can, however, pass this Peutz-Jeghers gene mutation to their children.
Genetic counseling is available, and recommended, for individuals with Peutz-Jeghers Syndrome and their family members. Genetic counselors will explain the inheritance pattern of PJS and discuss which family members are at-risk for developing the condition. Counseling services are available through genetics and oncology departments in many hospitals. Also, it is recommended that families with Peutz-Jeghers Syndrome contact local registries (see Resources p. ) for access to resources and for help with identification of family members at risk.
- George Jones has Peutz-Jeghers Syndrome. His wife, Susan, is unaffected. They have three children, George, Jr., Stephen and Carol. All three children had a 50% chance of inheriting the PJS gene. Subsequently, George, Jr. and Carol developed PJS.
- George, Jr., and his wife, Connie, have two children. Although both children had a 50% chance of inheriting the PJS gene, neither did.
- Stephen and his wife, Gloria, have two children. Since Stephen is unaffected there was no risk of PJS to his children.
- Carol and her husband, Bill Smith, have two children. Both children had a 50% chance of inheriting the PJS gene, and both subsequently developed PJS.
IS THERE A BLOOD TEST (DNA OR GENE TEST) FOR PJS?
The altered gene that causes PJS in most patients is now known. The gene is called STK 11 and is found on chromosome 19. Currently, gene testing is only available through research studies. This testing may become more widely available in the future.
WHY IS EARLY DIAGNOSIS IMPORTANT?
A blood test for the PJS gene can confirm a suspected diagnosis of PJS or can tell an at-risk person if he or she has inherited the gene mutation identified in the family. However, gene tests do not reveal the presence of polyps or cancer.
It is helpful to know which children have inherited PJS because those affected with PJS have an increased risk of developing cancer at an earlier age than the general public. Cancers that affect people with PJS include cancer in the small intestine, large intestine, stomach, pancreas, breast, ovaries, uterus, testes, lungs, and kidneys.
Early diagnosis of PJS is important for prevention and early detection of cancer. When cancers related to PJS are detected early, the chance of a cure is much better. Furthermore, early and frequent examination might reassure a person that he or she does not have the condition even though relatives do.
WHAT ARE THE SYMPTOMS OF PJS?
Some individuals with PJS may develop polyps before they actually have symptoms of the condition. If symptoms do develop, they may include abdominal pain if the polyps begin to block the intestine. The intestinal blockages are often due to intussusception, an infolding of one segment of the intestine within another. The polyps may also cause bleeding that may or may not be seen in the stool.
In addition, most individuals with PJS have small, flat, dark brown or black spots on the lips and inner cheek, and sometimes on the hands, feet, and eyelids. These spots form in early childhood and can fade during the late teenage years. They are completely harmless.
Diarrhea (not as a result of diet or flu), constipation, crampy pain in the stomach area, bloating in the abdomen, weight loss, lack of energy, anemia (low red blood cell count), nausea, precocious (early) puberty, and the formation of excessive breast tissue in men may also occur.
It should be emphasized that there is no safety in simply waiting for symptoms to develop. It is vital that parents and guardians make every effort to have examinations of their children starting during the teenage years even if they do not have symptoms.
SCREENING GUIDELINES FOR PEOPLE AT RISK FOR PJS
| Age | Males and Females |
| Birth | History and physical exam: examine for melanin spots, early puberty, and testicular tumors (males) |
| 12 | Genetic testing (STK 11 gene) if possible; otherwise, upper endoscopy, colonoscopy, and small bowel series |
| 18 | Upper endoscopy, colonoscopy, and small bowel series |
| 24 | Upper endoscopy, colonoscopy, and small bowel series |
If all exams are normal through the age of 24, the at-risk person is not likely to be affected with PJS. If polyps are detected, individuals should begin to follow the guidelines for follow up care shown on page .
SCREENING TESTS FOR PERSONS AT RISK FOR PJS
Persons at risk for PJS need to have several different types of examinations (as outlined in the screening guidelines). These tests are used to look for the presence of polyps and/or cancer.
- Upper endoscopy (EGD) is the primary test used to examine the inside of the upper part of the digestive tract. It is done with a lighted, flexible, hollow tube which is inserted through the mouth. With the scope, the doctor can determine whether polyps or cancers are present. At the time of the exam, a biopsy forceps may be inserted through the scope to remove a bit of tissue for examination under a microscope. Most patients feel little or no discomfort during this examination. The night before the EGD, it is important to eat or drink nothing after 12:00 midnight except medications that the doctor has allowed.
- Small bowel follow-through (SBF) is an X-ray study of the small intestine often used to identify and determine the cause of small bowel obstruction. It may also be used to identify tumors, strictures (narrowing of any tube in the body), inflammation, and diseases of the small intestine present at birth. Prior to the SBF study, the patient is asked to drink a barium milkshake through a straw. A special X-ray called a fluoroscope takes a series of pictures as the barium flows through the small intestine. The pictures are taken at frequent intervals. An upper gastrointestinal (GI) series is often performed at the same time. The upper GI series takes X-rays pictures of the lower esophagus, stomach, and part of the small bowel called the duodenum. This test usually takes between 1-2 hours depending on the progression of the barium.
- Colonoscopy is used to look at the large bowel for polyps and signs of cancer. It is a flexible lighted tube that is passed through the rectum and used to view the entire large intestine up to the cecum (the end of the large intestine where it is joined to the small intestine). An extensive bowel preparation is needed for this exam and may take one to two days to fully clean out the bowel. Your doctor will provide you with instructions for the bowel prep that is right for you prior to the exam.
- Endoscopic ultrasound (EUS) is an imaging technique that is performed using an endoscope with an ultrasound probe at its tip. Doctors may use EUS to evaluate the pancreas since people affected with PJS have an increased risk for pancreatic cancer.
- CA19-9 is a tumor marker for pancreatic cancer. Tumor markers are biochemical substances in the blood that, if elevated, suggest the presence of cancer.
WHAT IS THE TREATMENT FOR PJS?
If polyps are found at examination, removal through the endoscope may be sufficient, although surgery may be recommended for some patients. In some instances multiple laparotomies may be necessary. A laparotomy is a procedure in which a surgical incision is made in the abdomen or pelvic region and polyps are then surgically removed.
Surgery is also performed to stop bleeding in the intestines and to correct a condition in which a segment of the intestine folds in on itself, cutting off the passageway through the intestines. This may be caused by large polyps in the intestine.
If cancer is found at examination, the doctor may recommend surgery. After a complete discussion of options, the patient and doctor can consider which one is best.
FOLLOW-UP CARE AFTER SURGERY FOR PEOPLE WITH PJS
The identification and removal of polyps may result in the prevention of cancer and an increased life span. However, other complications of this hereditary condition may still occur. For example, individuals with PJS are at an increased risk for cancer of the duodenum (the first part of the small intestine), stomach, pancreas, breast, ovaries, endometrium (uterus), cervix in women and testes in young boys.
GUIDELINES FOR FOLLOW-UP CARE FOR PEOPLE WITH PJS
| Age | Males | Females |
| 12 | History and physical exam (examine for precocious puberty and testicular tumors) every year
Upper endoscopy, colonoscopy, and small bowel series every 2 years |
History and physical exam (examine for precocious puberty) every year
Upper endoscopy, colonoscopy, and small bowel series every 2 years |
| 18 | No recommendations | Gynecological exam, transvaginal ultrasound, and CA 125 every year |
| 25 | CT scan and CA 19-9 OR endoscopic ultrasound every 1-2 years | Clinical breast exam and mammogram every year
CT scan and CA 19-9 OR endoscopic ultrasound every 1-2 years |
RESOURCES
- THE AMERICAN CANCER SOCIETY
National Headquarters
1599 Clifton Road, N.E.
Atlanta, Georgia 30329
(404) 320-3333
1-800-ACS-2345
The ACS can offer assistance if cancer should occur. Check the telephone directory for your local chapter.
- STATE VOCATIONAL REHABILITATION SERVICE
This service offers training for another vocation if one should be physically unable to return to the same kind of work performed prior to surgery. Check your telephone directory for your state services.
- GENERATION TO GENERATION (A NEWSLETTER FOR PEOPLE CONCERNED ABOUT HEREDITARY COLON CANCER AND POLYPOSIS)
The NEWSLETTER is a quarterly publication produced by MD Anderson Cancer Center. It deals with polyposis and hereditary colon cancer and is free to all individuals and their families with these conditions. The NEWSLETTER welcomes articles and letters from patients, their families, and professionals. Articles concerning new research and treatments are welcome. This publication can be obtained by contacting the Coordinator, Department of Behavioral Science, Box 243, M.D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, Texas 77030 or http://www.mdanderson.org/depts/hcc.
- POLYPOSIS AND HEREDITARY COLON CANCER REGISTRIES
Registries, located throughout the United States, Canada and in some other countries, study families affected with PJS. Registries can help to identify relatives at risk for the disorder, and may be able to provide educational materials and physician referrals. Further information concerning Polyposis Registries may be obtained by contacting Coordinator, The Johns Hopkins Hereditary Colorectal Cancer Registry, The Johns Hopkins Hospital, 550 North Broadway, Suite 108, Baltimore, Maryland 21205-2011. Phone (410) 955-3875 or toll free 1-888-77-COLON (1-888-772-6566). Fax (410) 614-9544. E-mail hccregistry@jhmi.edu.
PUBLICATIONS
- Spigelman, A. D. & Phillips, R. K. S. (1995). Polyposis: The Peutz-Jeghers Syndrome. British Journal of Surgery, 82, 1311-1314.
- Taking Time: Support for People with Cancer and the People Who Care about Them. National Cancer Institute, 9000 Rockville Pike, Bethesda, Maryland 20892. Call 1-800-4-CANCER.
- What You Need to Know about Cancer of the Colon and Rectum, National Cancer Institute, 9000 Rockville Pike, Bethesda, Maryland 20892. Call 1-800-4-CANCER.
- Understanding DNA Testing: A Basic Guide for Families, National Center for Education in Maternal and Child Health, 38th and R St., NW., Washington, D.C. 20057.
GLOSSARY
- Adenoma: A benign polyp that may be precancerous.
- Anus: Outlet of the rectum.
- At-risk: A person at risk has the possibility of developing the condition which is present in his/her family.
- Barium: A chalky liquid which is resistant to x-rays, making it visible on x-ray film and permitting the doctor to see any defects, obstructions, or masses.
- Biopsy: Removal of a small bit of tissue for examination under the microscope.
- CAT Scan: (Computerized Axial Tomography) A form of x-ray that shows the size and shape of body organs layer by layer.
- Cecum: The first part of the large intestine (colon).
- Chromosome: The carrier of the genetic material of a cell (genes). The normal number of chromosomes in a human cell is 46 (23 pairs).
- Colon: (Large intestine, large bowel) The last portion of the intestines. It comprises the cecum, ascending colon, transverse colon, descending colon, and sigmoid colon. It is 5-6 feet in length.
- Colonoscopy: A test in which a flexible tube, about 5 feet in length, is used to examine the inside of the entire colon. The tube has a light source, a magnifying eyepiece, and an open channel through which air can be passed and a biopsy taken.
- DNA: (Deoxyribonucleic Acid). The molecule that contains the code for the genetic blueprint. It is found in the nucleus of cells. Duodenum: The first part of the small intestine. It is 12-15 inches in length.
- Endometrium: The mucous membrane comprising the inner layer of the uterine wall.
- Esophagogastroduodenoscopy (EGD, Upper Endoscopy): A test in which a flexible tube is used to examine the interior of the upper GI tract (Esophagus, stomach, and duodenum). The tube has a light source, a magnifying eyepiece, and an open channel through which a biopsy can be taken.
- Fecal occult blood test: A test using specially treated cardboard slides to check for hidden blood in the stool. Flexible sigmoidoscopy: A test in which a flexible tube about 2.5 feet in length is used to examine the rectum and lower part of the large bowel. The tube has a light source, a magnifying eyepiece, and an open channel through which air can be passed and a biopsy taken.
- GI tract (Gastrointestinal): The digestive system, consists of the esophagus, stomach, small intestine (22-25 feet in length), and large intestine (5-6 feet in length).
- Gene: The basic unit of heredity, each one occupying a certain place on a chromosome.
- Hamartoma: A type of polyp that is made of an abnormal mixture of tissue types but is not cancerous. Hereditary: Genetically passed down from parent to children.
- Ileum: The last part of the small intestine, 12-15 feet long. Inflammation: Tissue that is swollen, red, and/or irritated. Intussusception: The infolding of one segment of the intestine within another.
- Jejunum: The middle part of the small intestine, 8-10 feet long.
- Marker: A physical abnormality that may indicate the presence of, or may predict the future occurrence of specific disorder in an individual.
- Melanin spots: Dark, pigmented spots that can occur on the lips, mouth, fingers, toes, eyelids, and genitals of individuals with PJS.
- Mutation: A change in a gene which may result in a specific disorder.
- Pedigree: A family tree; genealogy.
- Polyp: An abnormal, mushroom-like growth. Peutz-Jeghers Syndrome: An inherited disorder of the gastrointestinal tract in which there are polyps that can become cancerous. The polyps occur mostly in the small intestine (small bowel) but can also develop in the stomach and colon. In PJS there are also skin pigment changes.
- STK11: Mutation of this gene found in patients affected with PJS.
- Syndrome: A collection of abnormal physical characteristics occurring in an individual (Example: Peutz-Jeghers Syndrome has polyps in the GI tract with skin pigmentation.).
- Anus: Outlet of the rectum.
for early detection of cancer in people without symptoms:
Cancer-related checkup every 3 years from age 20-40, and every year after age 40. This exam should include the procedures listed below plus health counseling (such as tips on quitting cigarettes) and depending on the person's age might include examinations for cancers of the thyroid, testes, prostate, oral region, ovaries, skin, and lymph nodes. Some people are at higher risk for certain cancers and may need to have tests more frequently.