ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2008) 16 P766

Higher prevalence of nodular goiter and thyroid carcinoma in patients with familial adenomatous poliposis (FAP)

Lucia Zirilli1, Stefania Romano1, Bruno Madeo1, Cesare Carani1, Piero Benatti2, Maurizio Ponz De Leon2, Luca Roncucci2 & Vincenzo Rochira1

1Chair of Endocrinology, Integrated Department of Medicine, Endocrinology, Metabolism and Geriatrics, University of Modena and Reggio Emilia, Modena, Italy; 2Clinic of Internal Medicine, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy.

FAP is a dominant autosomic syndrome, due to mutation of the APC oncosuppressor gene, characterised by adenomatous polyps at the colon–rectal level, that progres to malignant degeneration. FAP extraintestinal manifestations include, although rare, the thyroid nodules and tumours. Neck ultrasound (US) is routinely useful to identify thyroid nodules, but the characterisation of their nature requires the cytology by a FNAb. The exact incidence of the thyroid tumours on FAP syndrome is unknown.

Aim: To evaluate the prevalence of thyroid nodules and tumours in a group of FAP patients.

Subjects and methods: Forty-six consecutive FAP outpatients (25♀–54%, 21 ♂–46%; mean age 46.76±DS 13.96 years) underwent neck US. The lesions above 5 mm of diameter underwent FNAb. The control group was of 599 subjects who underwent FNAb because of thyroid nodules.

Results: From the 41 FAP patients included in the study, 18 (43.9%) (13♀, 5♂) showed thyroid nodules. The FNAb was performed on 12 FAP patients with thyroid nodules (66%; 8♀, 4♂): 2♀ (16.67%; mean age 34.05 years) had a diagnosis of papillary thyroid carcinoma. From the 599 FNAb of the control group 23 (3.8%) had a diagnosis of thyroid carcinoma (6♂-1% and 17♀-2.8%; mean age 48.88±DS 14.83 years).

Conclusion: The nodular goiter is very common in FAP (43.9%). Furthermore, cytology at FNAb highlights as the prevalence of thyroid tumours is higher in FAP group (16.67%), also when compared with a control group, selected from a iodine deficient area with an high incidence for thyroid carcinoma (3.8%). These data show a possible correlation between the two diseases and suggest the need for a careful follow-up of thyroid lesions in patients with FAP, by means of both neck US and FNAb.

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