Polyposis syndromes are a group of hereditary colorectal cancer syndromes that cause multiple polyps to grow within the digestive tract. These polyps can turn cancerous over time, which is why children at risk for polyposis syndromes should receive early screening and comprehensive care like that found at NewYork-Presbyterian. Our expert pediatric gastroenterologists work with a multidisciplinary team of specialists to screen, diagnose and treat polyposis syndromes in children of all ages. As part of a world-renowned medical center, your child will receive advanced, personalized care that is designed to meet their needs and improve quality of life.
What are Polyposis Syndromes?
Polyposis syndromes are a group of hereditary colorectal cancer syndromes that cause multiple polyps to grow within the digestive tract, including the colon, rectum, stomach, and intestines. These conditions can significantly increase an individual’s lifetime risk of developing various gastrointestinal cancers, and many are associated with the development of cancers in other parts of the body.
Types of Polyposis Syndromes
There are many types of polyposis syndromes, including:
- Familial adenomatous polyposis (FAP)
- Juvenile polyposis
- Peutz-Jeghers polyposis
- PTEN Hamartoma Tumor Syndrome (Includes Cowden Syndrome, Bannayan Ruvalcaba Riley Syndrome, Proteus Syndrome)
- MUTYH /NTHL1 associated polyposis
- Polymerase proofreading-associated polyposis
- Serrated polyposis
- Hereditary mixed polyposis
Symptoms of Polyposis Syndromes
Symptoms of polyposis syndromes can vary, depending on the type of syndrome. For instance, for children with FAP, the development of polyps within their colon and rectum usually begins in their teens. These polyps aren’t typically painful, but they can bleed and lead to the appearance of blood in the stool. Bleeding from polyps can also lead to the gradual development of anemia.
If the polyps develop into malignant cancers or if there is a large number of polyps, other symptoms may develop, including:
- Weight loss
- Altered bowel habits
FAP and Associated Conditions
One of the most common polyposis syndromes is Familial Adenomatous Polyposis, or FAP, which causes a large number of polyps to form within the colon and rectum. Surveillance and removal of these polyps using endoscopy are necessary to prevent the development of cancer. Surgical interventions to remove the colon are necessary if there are too many polyps to monitor or if cancer develops. Like other polyposis syndromes, FAP is caused by a genetic abnormality. In the case of FAP, the mutation is the APC gene. Some of the most common other organs to develop polyps in FAP are the stomach and the duodenum (the first part of the small intestine).
Other findings in FAP include:
- Benign tumors in the connective/scar tissue (desmoid tumor)
- Noncancerous tumors in the bones (osteomas)
- Tooth decay
- Pigmentation just outside the retina (Congenital hypertrophy of the retinal pigment epithelium)
- Noncancerous skin abnormalities
- Cancer in additional parts of the body, including the small bowel, thyroid, pancreas, and other areas.
Why Choose Us
Nationally Ranked Children’s Hospitals
Both NewYork-Presbyterian Komansky Children’s Hospital and NewYork-Presbyterian Morgan Stanley Children's Hospital are among the nation's leading centers for the diagnosis and treatment of childhood digestive diseases. They are both major referral centers for complex and rare digestive disorders in infants, children, and adolescents.
Multidisciplinary Team Approach
NewYork-Presbyterian’s pediatric gastroenterologists are experts in the diagnosis and treatment of a wide range of digestive diseases and disorders in children. Their knowledge and clinical expertise across the entire spectrum of pediatric digestive disorders, coupled with a multidisciplinary team approach, enable them to develop expertise in very rare conditions such as polyposis syndromes.
As physicians affiliated with dedicated children’s hospitals, they collaborate with pediatric specialists in every field of medicine and surgery as needed, including pediatric surgeons, anesthesiologists, nurses, child life advocates, and social workers specially trained to work with children.
Expertise in Genetic Testing and Counseling
At NewYork-Presbyterian, our team of highly specialized, internationally recognized geneticists, genetic counselors, and nurse practitioners provide clinical services to children and adults with a wide variety of genetic conditions. Our geneticists provide comprehensive genomic testing that may not be available or is difficult to access at other institutions. We frequently use exome or genome sequencing to facilitate diagnoses in complex cases.
Expertise in Colorectal Cancer Surgery
At NewYork-Presbyterian, colorectal surgeons are trained to perform all the most advanced techniques to treat colorectal cancers at all levels of complexity. We provide colonoscopy screenings to both monitor your child’s health and to identify any issues in family members before they develop into actual cancers.
State-of-the-Art Endoscopic Services
Endoscopy is a key component in the diagnosis and treatment of some polyposis syndromes, such as FAP. At the NewYork-Presbyterian Morgan Stanley Children’s Hospital Laura Rothenberg Bronchoscopy and Endoscopy Center and at NewYork-Presbyterian Komansky Children’s Hospital, pediatric gastroenterologists perform hundreds of advanced endoscopic procedures a year, including upper endoscopy, colonoscopy, and video capsule endoscopy.
Access to World-Class Pediatric Specialists
Your child's healthcare team has access to all of the various pediatric medical and surgical subspecialists who practice at NewYork-Presbyterian, ensuring that all of your child's medical needs can be addressed.