Henry Ford Hospital Medical Journal


Prospective annual screening for hereditary medullary thyroid carcinoma (MTC) in the J-kindred, currently a 117-member family with multiple endocrine neoplasia type 2A, began in 1969. During the initial screening, 12 patients were found to have MTC. Subsequent screening has detected C-cell abnormalities (C-cell hyperplasia or microscopic MTC) in 22 of 23 addilional family members thyroidectomized for abnormal calcium- or pentagastrin-provocative calcitonin (CT) test results. Seven of the initial 12 patients thyroidectomized in 1970 to 1971 and 19 of 23 individuals thyroidectomized since 1971 remain disease-free by all criteria; three patients thyroidectomized since 1971 have had clearly abnormal serum CT measurements on one or more provocative tests. The significance of these abnormal test results is unclear because normal values were obtained when the samples were measured in another CT radioimmunoassay. Urine catecholamine abnormalities have been detected in 19 family members since 1969, resulting in ten bilateral and eight unilateral adrenalectomies. Four of the patients with initial unilateral adrenalectomy required reoperation for a pheochromocytoma in the contralateral gland nine to 13 years later. Hyperparathyroidism has not been observed in any of the family members with early C-cell disease. We conclude that prospective screening for hereditary MTC predicts histologic C-cell abnormalities in affected individuals, and follow-up of these patients provides support for the conclusion that early thyroidectomy is curative in most patients.