Objective: To report our experience of the clinical characteristics, treatment 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 investigation, indication for operation and type, variety of papillary carcinoma and characteristics (size, adenopathies, multicentricity and bilaterality), treatment with 131I, 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 primary hyperparathyroidism, cervical palpation and ultrasound showed a thyroid 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-differentiated, mean (SD) diameter was 1.5 (1) cm and in four were microcarcinomas. Three patients presented with invaded nodes. They were all treated postoperatively with 131I, 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 concentration seven years later; however clinical exploration and morphological screening were within normal limits and he was treated with 131I 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.