Numerous colonic adenomas in an individual with Bloom's syndrome

Andrew M. Lowy, Jennifer J. Kordich, Viviana Gismondi, Liliana Varesco, Ruthann I. Blough, Joanna Groden

Research output: Contribution to journalArticle

Abstract

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 I 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.

Original languageEnglish
Pages (from-to)435-439
Number of pages5
JournalGastroenterology
Volume121
Issue number2
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Gastroenterology

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    Lowy, A. M., Kordich, J. J., Gismondi, V., Varesco, L., Blough, R. I., & Groden, J. (2001). Numerous colonic adenomas in an individual with Bloom's syndrome. Gastroenterology, 121(2), 435-439.