News and Features A multifocused approach to treating hereditary polyposis

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Multidisciplinary team treats patients with inherited gastrointestinal conditions

As the number of children with inherited gastrointestinal conditions grows, so do the treatment options at Children’s Mercy. Staff of the Hereditary Polyposis Clinic, a multidisciplinary group of gastroenterologists, genetic counselors, geneticists and surgeons, draw on each of their individual specialties to offer a multifaceted approach to the treatment of children with inherited conditions.

Septer-article
Seth Septer, D

Treating GI Conditions with Genetic Origins

More than 70 patients are undergoing treatment at the clinic; their syndromes include familial adenomatous polyposis (FAP), juvenile polyposis syndrome, PTEN Hamartoma Tumor syndrome and Peutz-Jeghers syndrome.

Seth S. Septer, DO, founder and Director of the Hereditary Polyposis Clinic and Assistant Professor of Pediatrics at the University of Missouri-Kansas City School of Medicine, relies on his specialty, pediatric gastroenterology, to monitor patients’ conditions.

"We do a lot of surveillance using endoscopy and colonoscopies," Dr. Septer said. "However, because there are multiple other risks outside the GI tract, like thyroid cancer, testicular cancer and desmoid tumors, we function as an organizer to make sure all appropriate testing is completed."

Genetic Testing and Clinical Research

Typically, patients first see one of the gastroenterologists on the team in combination with a genetic counselor. A great deal of time is spent on family histories. Education also is offered to help family members understand what the condition means to them, and what options are available.

Physicians conducting multipronged research at the Hereditary Polyposis Clinic are investigating underlying causes of inherited conditions, and possible new treatment options.

  • Researchers are looking into the genotype and phenotype correlations within each of the inherited syndromes to determine if a patient may be at risk for a certain type of cancer, or a more aggressive form of cancer, depending on their gene mutations.

  • Exome sequencing at the Children’s Mercy Center for Pediatric Genomic Medicine is helping researchers examine a patient’s whole genome as they look for new mutations and the risks they carry.

  • The Polyposis Clinic is working in collaboration with Dr. Thomas Attard in Malta and pediatric gastroenterologists in the Mediterranean to compare cases and develop best practices.

  • A long-term study is under way in conjunction with the University of Missouri-Kansas City School of Dentistry to examine oral manifestations of FAP.

  • Dr. Septer is collaborating with Shrikant Anant, PhD, at the University of Kansas Medical Center’s Cancer Center to find new drugs that may delay or prevent colon cancer in children and adults with hereditary polyposis syndromes.
Studying Cancer at the Cellular Level

"Using a mouse model for FAP, along with cell culture work, we’re studying cellular mechanisms to see how cancer develops, and more importantly, to develop new treatment options," Dr. Septer said. "We are still looking for medications that are efficacious and safe. Developing a chemopreventive agent that suppresses polyps would potentially delay the need for colectomy."

Together, each aspect of the team’s multifaceted approach is having an impact on clinic patients.

"These are fairly rare syndromes, but they’re very important because they have the risk of multiple cancers," Dr. Septer said. "As a result, multiple specialists are needed to deal with all of the different issues that arise. With our approach of providing coordinated, multidisciplinary care and surveillance, we’re seeing good outcomes. So it is encouraging that we are gaining the knowledge and experience we need to take care of our patients and offer them a good quality of life."

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