Lowy A M, Kordich J J, Gismondi V, Varesco L, Blough R I, Groden J
Department of Surgery, Division of Surgical Oncology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267-0524, USA.
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.
布卢姆综合征（BS）是一种由BLM基因种系突变引起的罕见隐性疾病。患有BS的个体表现出生长发育迟缓、免疫缺陷和易患癌症的倾向。在本报告中，我们描述了一名患有BS且有多个结肠腺瘤的个体，这些腺瘤让人联想到家族性腺瘤性息肉病（FAP）。分子研究显示，6个腺瘤中有4个存在APC突变，其中2个腺瘤具有相同的APC突变，6个腺瘤中有1个存在微卫星不稳定性。这些结果表明，BS患者发生结直肠癌的途径与正常人群相似，提示BS患者可能对结直肠癌特别易感。
