RESUMO
Therapy-associated polyposis (TAP), an acquired gastrointestinal polyposis in childhood cancer survivors, poses diagnostic challenges resembling hereditary syndromes. Four TAP patients were studied, revealing upper gastrointestinal lesions after radiotherapy in 2 patients, managed by endoscopic resection. Two underwent total colectomy; 1 had adenocarcinoma from a polyp. Next-generation sequencing on diseased tissue revealed no alteration in mismatch repair genes with stable microsatellite status; however, there was somatic mutation in APC gene altering Wnt signaling pathway in all 3 precancerous lesions. Integrating endoscopic and surgical interventions is crucial, although ongoing studies aim to elucidate pathophysiology for potential targeted therapies in TAP management.
RESUMO
Though improved screening practices have reduced the incidence and mortality of colorectal cancer (CRC), screening rates continue to be suboptimal. This is especially true of high-risk individuals, who are difficult for clinicians to identify during a typical health care encounter. The authors developed an electronic patient questionnaire that determined an individual's CRC screening status and identified high-risk individuals. The questionnaire was administered to employees through the Department of Human Resources. The response rate was 44.7%; 81.2% of respondents aged ≥50 years were up-to-date on CRC screening; 878 high-risk individuals were identified, 77.7% of whom were up-to-date on CRC screening. However, among high-risk individuals aged 40 to 49 years, only 45.8% reported up-to-date CRC screening. The questionnaire was effective in measuring CRC screening rates and identifying high-risk individuals. Dissemination by the Department of Human Resources was novel, effective, and was not dependent on a health care encounter to assess screening or high-risk status.