Henry Ford Hospital Medical Journal


Screening of first-degree relatives of patients with medullary thyroid cancer (MTC) gave normal values of pentagastrin-stimulated serum calcitonin and 24-hour urinary catecholamine levels in the relatives of 18 of 22 patients. This result is considered to be valid evidence for sporadic MTC. Absence of C-cell hyperplasia maybe another indication of sporadic MTC. Four hereditary MTCs were represented by one fully expressed MEN-2B patient without affected relatives, one fully expressed MEN-2A case in one family, and two first cousins with MTC as the only MEN-2A lesion in another family. Fourteen relatives of the MEN-2A patients had elevated serum calcitonin levels, and eight additional cases were detected during a subsequent prospective survey. No linkage to genetic markers was found in one MEN-2A family, and no deletion within band 20p12.2 was found in seven MEN-2A affected individuals in the two families.