Pediatric Polyposis Syndromes: Hereditary Non Polyposis Syndromes

Check out this week's stay current short. Hereditary non-polyposis colon cancer syndromes are related to defects in the mismatch repair genes and either lead to Lynch syndrome, which is autosomal dominant or constitutional mismatch repair defect, CMMD, an autosomal recessive disease. Um so Lynch syndrome um because you guys uh you know, from the adult side I assume we've heard about this, but it's hereditary non-polyposis colorectal cancer from dominant mutations in the mismatch repair genes and it's present in 3 to 5% of all colon cancers and 3% of all uterine cancers. That's Dr. Joseph Palermo. He's a pediatric gastroenterologist and a member of the multidisciplinary polyposis team at Cincinnati Children's Hospital. Patients with Lynch syndrome start screening between 20 to 30 years old. The exact guidelines vary based on which gene mutation is present, but screening is important. So for Lynch syndrome we do our initial screening and colonoscopy, um every one to two years. Um again, this is predominantly more in adults. Um and so if they have mutations um in MLH1 or two or MSH2, they start at 20 to 25 years of age. Um mutations in MSH6 or PMS2, they start at 25 to 30 years of age. Um it can be earlier if they have a first degree relative with cancer. CMMRD, however, is very aggressive and leads to both GI and non GI cancers in the patients less than 25 years old. So screening happens at a much younger age, gets on a pretty intense schedule with regular follow-up every six months. And then the constitutional mismatch repair defects, um uh if they have a known mutation, um uh and family history, they we start very early at uh every eight years with their colonoscopy. Um but other tumors start even earlier. So if they have brain tumors, um and they have a known mutation, uh to screen for brain tumors in somebody with a known mutation, they start we start as early as age 2. Um and for other mutations uh for the um leukemias and lymphomas, we start at age one with CBC's and and exams. For pediatric patients with polyposis syndromes, the transition to adulthood can be tough. And so assuring that appropriate transfer of care to an adult GI team or colorectal surgeon is an important part of their overall care plan. And again, they need extra intestinal um screening as well. Um and uh this is where coordination multidisciplinary coordination is important, especially when these patients transition to the transition to the adult side to make sure that not just their colon screening, but all the other screenings continue. Check out the full episode on YouTube, the stay current app or SoundCloud. Find the links below.