BACKGROUND: Familial adenomatous polyposis (FAP) is the most common inherited polyposis syndrome characterized by the development of hundreds of colorectal adenomatous polyps. The aim of this study was to review cases of FAP diagnosed at The Children's Hospital of Philadelphia in a 16-year period. METHODS: Medical records of patients diagnosed as having FAP between 1990 and 2005 were reviewed. The collected data included disease presentation, genetic profile, extraintestinal manifestations, surveillance, and treatment. RESULTS: We identified 12 patients with FAP. The age range at presentation was 7 to 18 years. Seven (68%) patients presented due to symptoms, the most common of which was rectal bleeding (6 patients, 86%). The youngest age at which polyps were detected was 7 years. Eight patients (67%) had positive family history. Three patients had Gardner syndrome and 1 presented in infancy with hepatoblastoma. Four patients had adenomatous polyposis coli gene mutation identified. One patient was diagnosed as having rectal carcinoma in situ. Six patients (50%) had gastric fundic gland polyposis and 6 had duodenal adenomatous changes. Capsule endoscopy was performed in 3 patients; 1 had multiple polyps in the duodenum and the jejunum. Seven patients (58%) underwent total colectomy with no serious complications. CONCLUSIONS: FAP is a rare condition but with significant risk of cancer and comorbidity. In this series, patients commonly presented to medical attention due to their symptoms. The youngest patient with polyps detected was 7 years old. We identified 1 patient with rectal cancer in situ and high proportion of patients with duodenal adenomatous lesions. Majority of patients underwent early colectomy.
BACKGROUND:Familial adenomatous polyposis (FAP) is the most common inherited polyposis syndrome characterized by the development of hundreds of colorectal adenomatous polyps. The aim of this study was to review cases of FAP diagnosed at The Children's Hospital of Philadelphia in a 16-year period. METHODS: Medical records of patients diagnosed as having FAP between 1990 and 2005 were reviewed. The collected data included disease presentation, genetic profile, extraintestinal manifestations, surveillance, and treatment. RESULTS: We identified 12 patients with FAP. The age range at presentation was 7 to 18 years. Seven (68%) patients presented due to symptoms, the most common of which was rectal bleeding (6 patients, 86%). The youngest age at which polyps were detected was 7 years. Eight patients (67%) had positive family history. Three patients had Gardner syndrome and 1 presented in infancy with hepatoblastoma. Four patients had adenomatous polyposis coli gene mutation identified. One patient was diagnosed as having rectal carcinoma in situ. Six patients (50%) had gastric fundic gland polyposis and 6 had duodenal adenomatous changes. Capsule endoscopy was performed in 3 patients; 1 had multiple polyps in the duodenum and the jejunum. Seven patients (58%) underwent total colectomy with no serious complications. CONCLUSIONS:FAP is a rare condition but with significant risk of cancer and comorbidity. In this series, patients commonly presented to medical attention due to their symptoms. The youngest patient with polyps detected was 7 years old. We identified 1 patient with rectal cancer in situ and high proportion of patients with duodenal adenomatous lesions. Majority of patients underwent early colectomy.
Authors: David Schiff; Kurt A Jaeckle; S Keith Anderson; Evanthia Galanis; Caterina Giannini; Jan C Buckner; Phillip Stella; Patrick J Flynn; Bradley J Erickson; John F Schwerkoske; Vesna Kaluza; Erin Twohy; Janet Dancey; John Wright; Jann N Sarkaria Journal: Cancer Date: 2018-01-03 Impact factor: 6.860