High prevalence of thyroid disorders in relatives of patients with familial papillary thyroid cancer

Medicina (B Aires). 2010;70(2):139-42.

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.

MeSH terms

  • Adult
  • Autoantibodies / blood
  • Carcinoma, Papillary / complications*
  • Carcinoma, Papillary / genetics
  • Carcinoma, Papillary / immunology
  • Case-Control Studies
  • Female
  • Gene Rearrangement
  • Goiter / diagnosis
  • Goiter / etiology*
  • Humans
  • Hypothyroidism / diagnosis
  • Hypothyroidism / etiology*
  • Iodide Peroxidase / blood
  • Male
  • Middle Aged
  • Oncogene Proteins / genetics
  • Pedigree
  • Prevalence
  • Reverse Transcriptase Polymerase Chain Reaction
  • Thyroid Neoplasms / complications*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / immunology
  • Thyrotropin / blood

Substances

  • Autoantibodies
  • Oncogene Proteins
  • oncogene protein trk
  • Thyrotropin
  • Iodide Peroxidase