Primary high-grade neuroendocrine carcinoma emerging from an adenomatous polyp in the setting of familial adenomatous polyposis.

Journal Article (Journal Article)

Familial adenomatous polyposis (FAP) is a rare inherited syndrome that is characterised by innumerable adenomas of the colon and rectum, a high risk of colorectal cancer and a variety of extracolonic manifestations. FAP presents as hundreds to thousands of colonic adenomas beginning in adolescence. The syndrome is associated with less than 1% of all colorectal cancer cases, but there is a nearly 100% lifetime risk of colorectal cancer in individuals with FAP. This case demonstrates a 60-year-old man with FAP who developed high-grade neuroendocrine carcinoma with glandular and squamous differentiation, and regional lymph node and liver metastases. Early diagnosis of FAP is of the utmost importance to start screening colonoscopies to assess disease burden, perform polypectomies and to make management decisions. Neuroendocrine carcinomas rarely occur in patients with FAP, and awareness of this association among general medical physicians and pathologists is essential for the diagnosis and care of these patients.

Full Text

Duke Authors

Cited Authors

  • Detweiler, CJ; Cardona, DM; Hsu, DS; McCall, SJ

Published Date

  • February 16, 2016

Published In

Volume / Issue

  • 2016 /

PubMed ID

  • 26884076

Pubmed Central ID

  • PMC5483537

Electronic International Standard Serial Number (EISSN)

  • 1757-790X

Digital Object Identifier (DOI)

  • 10.1136/bcr-2015-214206


  • eng

Conference Location

  • England