Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study.

摘要: Papillary thyroid carcinoma (PTC) is one extracolonic manifestation affecting about 1-2% of patients with familial adenomatous polyposis (FAP). Ninety-seven FAP-associated PTC have previously been reported, including 6 pairs siblings. During a European collaborative study, 15 were collected. All females. The mean age at thyroidectomy was 24.9 yr (range, 19-39 yr). In 13 subjects, APC germline mutations had detected; they codons 140, 593, 778, 976, 993, 1061 (n = 5), 1105 1), and 1309 2), respectively. A review the literature added 11 other detection mutations; 313 698 3), 848 1209 latter led to formation same stop codon (TAA) 1125-1126 as mutation 1061. Therefore, 21 24 in exon genomic area usually associated congenital hypertrophy retinal pigment epithelium (CHRPE), i.e. 463-1387. Typical CHRPE found 17 18 affected who specific screening. Interestingly, 22 their out cluster region (codons 1286-1513), which currently considered hot spot area, particular for manifestations FAP. difference incidence before after 1220 between non-PTC FAP statistically significant (P<0.05) both kindreds (P 0.005 P 0.049, respectively). Even if most scattered throughout entire 5'-portion 15, 8 23 (6 2 1105; more than third) truncated protein product. awareness that well defined addition giving deeper insight into gene function, could facilitate earlier diagnosis better treatment. particular, intensive screening nodules recommended when single patient or an kindred and/or 15.