Numerous colonic adenomas in an individual with Bloom's syndrome.
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.
Lowy
A M
AM
Department of Surgery, Division of Surgical Oncology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267-0524, USA.
Kordich
J J
JJ
Gismondi
V
V
Varesco
L
L
Blough
R I
RI
Groden
J
J
D000236:Adenoma / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001816:Bloom Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D003110:Colonic Neoplasms / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats