Numerous colonic adenomas in an individual with Bloom's syndrome

Gastroenterology. 2001 Aug;121(2):435-9. doi: 10.1053/gast.2001.26259.


Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in 1 of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenoma / etiology
  • Adenoma / genetics
  • Adenoma / pathology*
  • Adult
  • Bloom Syndrome / complications
  • Bloom Syndrome / genetics
  • Bloom Syndrome / pathology*
  • Colonic Neoplasms / etiology
  • Colonic Neoplasms / genetics
  • Colonic Neoplasms / pathology*
  • Humans
  • Male
  • Microsatellite Repeats