Objective: To describe case reports of a brother and sister pair with Hurthle cell carcinoma of thyroid.
Methods: The clinical presentation, diagnostic workup, treatment and clinical course of HCC is described for both patients. Relevant family history is discussed. This is followed by a review of literature regarding genetic basis of familial and sporadic HCC.
Results: Both cases have striking similarities in their presentation and disease progression. Both had the disease diagnosed in later years of life, had cold nodules for 4-5 years before histological diagnosis, and both had local recurrence following thyroidectomy and postoperative radioiodine ablation. Local recurrence was treated with external radiation in each patient and both of them had persistent elevation of serum thyroglobulin levels with negative diagnostic whole body I-131 scans. Later on pulmonary metastatic disease was documented in each patient. Family history was pertinent for benign nodular thyroid disease in multiple family members.
Conclusion: HCC is a rare malignancy of thyroid. Genetic basis of familial HCC remains to be elucidated. Our case describes a rare familial occurrence of this malignancy and highlights the importance of obtaining a careful family history in management and surveillance of thyroid cancer.