Matsumoto T, Iida M, Kobori Y, Mizuno M, Nakamura S, Hizawa K, Yao T
Department of Endoscopic Diagnostics and Therapeutics, Kyushu University Hospital, Fukuoka, Japan.
Gut. 2002 Mar;50(3):402-4. doi: 10.1136/gut.50.3.402.
Serrated adenoma is a precursor of colorectal cancer.
To clarify possible genotype-phenotype correlations of serrated adenomas in familial adenomatous polyposis (FAP).
Eleven patients from eight families with FAP.
We performed total colonoscopy with multiple biopsies in patients. Neoplasia with a serrated glandular structure was regarded as a serrated adenoma. In each patient, germline mutations of the APC gene were determined. Colonic phenotype was compared with germline mutations of the APC gene.
Serrated adenomas were found in three patients. These patients had macroscopic polyps <100 in number. Pedigrees with serrated adenomas had the truncating germline APC mutation at codon 161, 332, or 1556 while in the other pedigrees mutations were found between codons 554 and 1324.
In FAP, serrated adenoma may be a phenotype characteristic of the attenuated form.
锯齿状腺瘤是结直肠癌的前体。
阐明家族性腺瘤性息肉病（FAP）中锯齿状腺瘤可能的基因型-表型相关性。
来自8个FAP家族的11名患者。
我们对患者进行了全结肠镜检查并多次活检。具有锯齿状腺结构的肿瘤被视为锯齿状腺瘤。在每位患者中，确定APC基因的种系突变。将结肠表型与APC基因的种系突变进行比较。
在3名患者中发现了锯齿状腺瘤。这些患者的肉眼可见息肉数量<100个。有锯齿状腺瘤的家系在密码子161、332或1556处有截短的种系APC突变，而在其他家系中，突变发生在密码子554和1324之间。
在FAP中，锯齿状腺瘤可能是轻型的表型特征。
