Papillary thyroid carcinoma in three siblings with familial adenomatous polyposis

Abstract

The authors report three siblings (two sisters and their aunt, aged 20, 22 and 36, respectively) with familial adenomatous polyposis (FAP) and papillary thyroid carcinoma. After diagnosis of FAP, a single, non palpable nodule was revealed in each patient by routine screening ultrasonography of the gland. The diagnosis of papillary carcinoma was made by fine-needle-aspiration biopsy of the nodules and confirmed by histologic examination of surgical specimens. A review of the literature reveals about 40 reports of such an association, that is considered not fortuitous. Nevertheless, in this family the association seems to be a distinctive, clinical feature of the syndrome, affecting three out of five members intensively screened for extracolonic lesions.

Microsatellite instability in thyroid tumours and tumour-like lesions

“…Interestingly, three FAP-associated thyroid papillary carcinomas, occurring in carriers of a germline mutation at codon 1061 of the adenomatous polyposis coli (APC) gene (Civitelli et al, 1996), resulted MI negative. The occurrence of widespread MI in benign thyroid lesions and its low frequency in papillary carcinomas were in agreement with the results of Soares et al (1997).…”

“…Seven additional cases of sporadic thyroid tumours were retrieved from surgical pathology files (cases AR1-AR7). Moreover, three papillary thyroid carcinomas occurring in distinct familial adenomatous polyposis (FAP) patients from a single FAP kindred (Civitelli et al, 1996) were also analysed. Altogether, the 51 cases analysed comprised three follicular nodules, considered as putative follicular preneoplastic lesions (LiVolsi, 1990), seven follicular adenomas, including two microfollicular and one trabecular variants, six Hürthle cell adenomas, two follicular carcinomas, two Hürthle cell carcinomas, two anaplastic carcinomas and 29 papillary carcinomas, two of which contained areas with follicular differentiation.…”

Thyroid carcinoma associated with familial adenomatous polyposis

“…The three patients with thyroid carcinoma were members of an extended kindred consisting of 23 members, spanning four generations. The extended pedigree of the kindred has been reported elsewhere, along with a detailed list of other extracolonic manifestations 21 . This kindred belonged to a series of 13 FAP kindreds that were intensive screened for FAP and associated extracolonic manifestations.…”

“…None of the patients had desmoid tumours. A detailed list of all extracolonic manifestations has been reported elsewhere 21 .…”

Familial Adenomatous Polyposis-Associated Thyroid Cancer

“…17 Most reports on FAP-associated thyroid cancer are case studies without molecular genetic investigations and/or specific genotype-phenotype correlations. 6,[17][18][19][20][21] However, three recent reports have described APC germline mutations at codons 848 and 1061. 18 -20 The molecular pathogenesis of sporadic thyroid carcinoma is still a subject of investigation.…”