title: High prevalence of thyroid disorders in relatives of patients with familial papillary thyroid cancer.
abstract: In the familial form of papillary thyroid cancer (PTC), two or more members of the same family have to be affected with PTC. Prevalence is around 5% of all PTC. We performed a clinical analysis in 79 relatives of 16 patients of 7 unrelated kindred with the diagnosis of familial papillary thyroid carcinoma (FPTC). The results were compared with a control group. Thyroid palpation and TSH and TPO-Ab assessment was carried out in the relatives without a diagnosed PTC. Additionally, molecular analysis was performed in the sixteen affected patients. Clinical screening of the 79 family members showed the presence of goiter in 22/79 (29 %). This frequency was much higher than that observed in the control group (8.7%), p < 0.001. Hypothyroidism was found in 4 of the relatives (5%) vs. 2.5% observed in the control group, p < 0.01, and anti-thyroid antibodies (TPO-Ab) were positive in 14% of the relative's group vs. 10 % in the control group, (p = NS). In the molecular analysis, only a protooncogene TRK rearrangement was observed in family # 6. In conclusion, we found a higher incidence of goiter and hypothyroidism in the relatives of patients with FPTC. Nevertheless, TPO-Ab frequency was not different. No molecular abnormalities were indicative of a specific pattern in this subset of patients with FPTC.
authors.affiliation: División Endocrinología, Hospital de Clínicas, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Graciela
authors.initials: G
authors.lastname: Cross
authors.forename: Fabián
authors.initials: F
authors.lastname: Pitoia
authors.forename: Horacio
authors.initials: H
authors.lastname: Suárez
authors.forename: Marta
authors.initials: M
authors.lastname: Kral
authors.forename: Marcos
authors.initials: M
authors.lastname: Manavela
authors.forename: Daniel
authors.initials: D
authors.lastname: Morando
authors.forename: Javier
authors.initials: J
authors.lastname: Herrera
authors.forename: Oscar D
authors.initials: OD
authors.lastname: Bruno
authors.forename: Hugo
authors.initials: H
authors.lastname: Niepomniszcze
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000097:blood; D002291:Carcinoma, Papillary / Q000150:complications* / Q000235:genetics / Q000276:immunology; D016022:Case-Control Studies; D005260:Female; D015321:Gene Rearrangement; D006042:Goiter / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000209:etiology*; D007453:Iodide Peroxidase / Q000097:blood; D008297:Male; D008875:Middle Aged; D015513:Oncogene Proteins / Q000235:genetics; D010375:Pedigree; D015995:Prevalence; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013964:Thyroid Neoplasms / Q000150:complications* / Q000235:genetics / Q000276:immunology; D013972:Thyrotropin / Q000097:blood
chemical_list: D001323:Autoantibodies; D015513:Oncogene Proteins; C065400:oncogene protein trk; D013972:Thyrotropin; D007453:Iodide Peroxidase