[Experience with presymptomatic screening of patients with C cell carcinoma of the thyroid gland]

Presymptomatic screening of medullary thyroid carcinoma in MEN 2A families enables the early diagnosis of this tumor burdened by significant morbidity. Biochemical screening consists of basal and stimulated serum calcitonin evaluation. Genetic screening is based on DNA analysis using linked DNA markers. Thyroidectomy at an occult tumor stage may provide curative treatment. Calcitonin measurement was carried out in 58 apparently unaffected family members at risk of 11 MEN 2A patients. In 9 individuals calcitonin elevation was detected. All 9 underwent thyroidectomy. Histological examination confirmed medullary thyroid carcinoma in 8 patients and in 1 case C-cell-hyperplasia. Postoperatively 8 patients (89%) are clinically and biochemically tumor-free (mean follow-up 30 months). DNA screening results in one affected family are presented. DNA analysis allowed the recognition of one apparently unaffected individual at risk as MEN 2A gene carrier. One family member at risk was scored as not carrying the gene and may be excluded from further screening.