Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies

[摘要] Familial thyroid cancer has become a well-recognized entity in patients with thyroid canceroriginating from follicular cells, that is, nonmedullary thyroid carcinoma. The diagnosis offamilial thyroid cancer provides an opportunity for early detection and possible prevention infamily members. Understanding the syndromes associated with familial thyroid cancer allowsclinicians to evaluate and treat patients for coexisting pathologic conditions. About fivepercents of patients with well-differentiated thyroid carcinoma have a familial disease. Patients with familial non-medullalry thyroid cancer have more aggressive tumors withincreased rates of extrathyroid extension, lymph node metastases, and frequently show thephenomenon of “anticipation” (earlier age at disease onset and increased severity insuccessive generations). So far, four predisposition loci have been identified in relatively rareextended pedigrees, and association studies have identified multiple predisposing variants fordifferentiated thyroid cancer. This suggests that there is a high degree of geneticheterogeneity and that the development of this type of tumor is a multifactorial and complexprocess in which predisposing genetic variants interact with a number of incompletelyunderstood environmental risk factors. Thus, the search for the causative variants is still openand will surely benefit from the new technological approaches that have been developed inrecent years.

[学科分类] 肿瘤学