FAMILIAL PAPILLARY THYROID CARCINOMA: A CASE SERIES

Abstract

The natural history and inheritance of familial papillary thyroid carcinoma (FPTC) remain unclear. A specific genetic defect responsible for this condition and its inheritance is yet to be established. The penetrance, mode of inheritance and treatment of this familial thyroid condition are different from other familial thyroid conditions (familial medullary thyroid cancer). Presented here is a family of four sisters in which three developed multifocal PTC. A 47-year-old lady presented with incidental finding of multinodular goitre and normal thyroid function. She had three other sisters who were diagnosed with PTC at age 46, 48 and 49 years. Detailed clinical history of her sisters was gathered from them over telephone as they all moved to different parts of world in their twenties. Literature review was carried out to find similar patients reported in literature. Environmental factors were less important in the development of PTC in this family. It was also interesting that all three were diagnosed with the condition at a very similar age. FPTC behaviour was not more aggressive than sporadic form of disease. There is not enough evidence in literature to suggest prophylactic thyroidectomy in relatives of patients with PTC. Since the exact inheritance pattern of this condition is not known, detailed family history is important in patients with thyroid disorders to identify high-risk patients. Genetic factors are much more important than environmental factors in the development of this condition. The first-degree relatives should be assessed clinically for further investigations if two individuals in the same family develop the condition at similar age.Key words: Familial follicular thyroid cancer, familial papillary thyroid cancer, papillary thyroid cancer