Colletta G, Sciacchitano S, Palmirotta R, Ranieri A, Zanella E, Cama A, Mariani Costantini R, Battista P, Pontecorvi A
Institute of Human Pathology, University of Chieti, Italy.
Br J Cancer. 1994 Dec;70(6):1085-8. doi: 10.1038/bjc.1994.452.
Familial adenomatous polyposis (FAP) is known to be associated with neoplasia of various tissues, including thyroid carcinoma. Germline mutations of the tumour-suppressor gene APC, responsible for the predisposition to FAP, may therefore be involved in the pathogenesis of these tumours. In this report the structure of the APC gene has been investigated in 26 thyroid tumours, at different stages of dedifferentiation, that were surgically excised from patients with a negative history of FAP. Approximately 35% of the APC gene coding region, where most of the mutations are clustered, has been analysed by a combination of single-strand conformation polymorphism and direct sequencing. No significant alterations could be demonstrated in any sample examined. It is concluded that, at least in patients not affected by FAP, APC gene abnormalities do not seem to play a relevant role in the pathogenesis of thyroid carcinoma.
家族性腺瘤性息肉病(FAP)已知与包括甲状腺癌在内的各种组织的肿瘤形成有关。因此,负责FAP易感性的肿瘤抑制基因APC的种系突变可能参与了这些肿瘤的发病机制。在本报告中,对26例不同去分化阶段的甲状腺肿瘤进行了APC基因结构研究,这些肿瘤是从无FAP病史的患者手术切除的。通过单链构象多态性和直接测序相结合的方法,分析了APC基因编码区约35%的区域,该区域是大多数突变聚集的地方。在所检测的任何样本中均未发现明显改变。结论是,至少在未受FAP影响的患者中,APC基因异常似乎在甲状腺癌的发病机制中不发挥相关作用。