Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study

摘要: We report two familial adenomatous polyposis (FAP) kindreds with thyroid cancer, harboring apparently novel germline APC mutations. The clinical phenotype in the first kindred was typical of classical polyposis, whereas second exhibited an attenuated phenotype. There a female predominance mean age 34 years (range, 23–49) at cancer diagnosis. Multiple sections four tumors from three FAP patients were analyzed detail. Histological examination showed range morphological features. Some papillary architecture and associated multifocal carcinoma; others, there unusual areas cribriform morphology, spindle-cell components whorled architecture. Immunoreactivity for thyroglobulin high molecular weight keratins strong. Somatic mutation analysis revealed insertion long interspersed nuclear element-1-like sequence one tumor sample, suggesting disruption APC. In patients, ret/PTC-1 ret/PTC-3 expressed cancers. No positivity observed ret/PTC-2. p53 immunohistochemistry positive only section recurrent sample. Our data suggest that genetic alterations FAP- involve loss function along gain ret/PTC, while do not appear to be early event tumorigenesis.