Familial Papillary Thyroid Carcinoma: a Case Series

Purpose: The natural history and inheritance of familial papillary thyroid carcinoma (FPTC) remains 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 is different from other familial thyroid condition (familial medullary thyroid cancer). Presented here is a family of four sisters in which three developed multi-focal papillary thyroid carcinoma (PTC). Cases: A 47 years old lady presented with incidental finding of multi-nodular goiter and normal thyroid function. She had three other sisters who were diagnosed with papillary thyroid carcinoma 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. Discussion: Environmental factors were less important in development of papillary thyroid carcinoma in this family. It was also interesting that all three were diagnosed with the condition at a very similar age. FPTC behavior 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 papillary thyroid carcinoma. Conclusion: 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 development of this condition. First degree relatives should be assessed clinically for further investigations if two individuals in the same family develop the condition at similar age.