Familial papillary carcinoma of the thyroid: Report of three families

Objective: To report our experience of the clinical characteristics, treatm ent and outcome of familial papillary carcinoma. Design: Descriptive study. Setting: Tertiary referral centre, Spain. Patients: Eight patients from three families. Interventions: Treatment for familial papillary carcinoma of thyroid. Main outcome measures: Age, sex, reason for consultation, preoperative inve stigation, indication for operation and type, variety of papillary carcinom a and characteristics (size, adenopathies, multicentricity and bilaterality ), treatment with I-131, and outcome. Results: The mean (SD) age was 46 (14) years, and seven were women. In all but one patient, who was admitted for hypercalcaemia and operated on for pr imary hyperparathyroidism, cervical palpation and ultrasound showed a thyro id nodule. Needle aspiration suggested papillary carcinoma in 6/7, who were all treated by total thyroidectomy. Four patients with enlarged nodes also had bilateral neck disection. All the papillary carcinomas were well-diffe rentiated, mean (SD) diameter was 1.5 (l)cm and in four were microcarcinoma s. Three patients presented with invaded nodes. They were all treated posto peratively with I-131, except the patient with hyperparathyroidism who had a microcarcinoma of 0.5 cm. After a median (range) follow-up of 1 (0, 6-7) years the patients are well, except one had a high thyroglobulin concentrat ion seven years later; however clinical exploration and morphological scree ning were within normal Limits and he was treated with I-131 5.6 x 10(9) Bq . Conclusions: About a third of familial papillary carcinomas of the thyroid have lymph node involvement at the time of diagnosis, and have a relatively good prognosis if treated in accordance with the stage of the disease.