Compliance with NCCN screening and chemoprevention recommendations among carriers of deleterious mutations in the adenomatous polyposis coli gene

• Published in: Journal of clinical oncology Vol. 36; no. 4_suppl; p. 571
• Main Authors: Kazmi, Syed Mohammad Ali, Mauer, Caitlin, Pirzadeh-Miller, Sara, Watson, Elise, Beg, Muhammad Shaalan, Ross, Theodora S.
• Format: Journal Article
• Language: English
• Published: 01.02.2018
• ISSN: 0732-183X; 1527-7755
• DOI: 10.1200/JCO.2018.36.4_suppl.571

Abstract only 571 Background: Deleterious mutations in adenomatous polyposis coli gene (APC) lead to familial adenomatous polyposis [FAP] and attenuated FAP (aFAP) syndromes associated with hereditary colorectal cancer (CRC) and extra-colonic neoplasms. Reports suggest only two-third of such patients (pts) comply with recommended screening guidelines. The objective of this study was to assess compliance of FAP/aFAP pts with NCCN recommended guidelines of screening endoscopies and chemoprevention in our population. Methods: Retrospective review of clinical charts of pts with APC mutations, identified through multi-gene panel or single-gene testing, and seen in our NCI designated Comprehensive Cancer Center between 01/2013 and 09/2017. Results: Out of 53 pts with deleterious APC gene mutations, 31 pts (58.5%) had mutations associated with an FAP (27 pts; mean-age 31 years) or aFAP (4 pts, mean-age 33 years) phenotype and were included in analyses. Ten of these 31 pts (32.3%) were diagnosed with FAP after diagnosis of CRC; the rest had family history of FAP/aFAP. Documentation of total-colectomy was found in 17 pts (54.8%), 4 pts (12.9%) did not undergo colectomy and this information was unknown in 10 pts (32.3%). Colonoscopy/EGD after diagnosis of FAP/aFAP was documented in 22 pts (71.1%) while subsequent annual EGD/colonoscopy was documented only in 14 pts (45.1%); records were missing in 13 pts (41.9%). Extra-colonic secondary neoplasms such as duodenal polyps were documented in 8 pts, gastric polyps in 7 pts, desmoid tumor in 2 pts and malignant cancer of ampulla of Vater in 1 pt. Other malignant neoplasms, unrelated with FAP/aFAP, were reported in 3 pts (9.6%, 1 breast, 1 kidney and 1 endometrial cancer). Chemoprevention with sulindac was used in 3 pts (9.7%), 3 pts (9.7%) declined such treatment, 17 pts (54.8%) records were without evidence of this being discussed. Conclusions: The rate of compliance in FAP/aFAP pts with NCCN recommended screening and chemoprevention guidelines in our cohort was low but similar to prior literature. A multidisciplinary approach and interventions to improve compliance among pts are necessary to improve annual screening and chemoprevention rates.