title: The importance of screening for medullary thyroid carcinoma in families of patients with MEN 2.
abstract: Family screening for medullary thyroid cancer (MTC) is important for detecting members of multiple endocrine neoplasia type 2 (MEN 2) families who may be gene carriers but show no clinical evidence of the disease. Most members of our MEN 2 families are screened yearly by measuring basal and pentagastrin-stimulated calcitonin (CT) levels. A 15-year-old first-degree relative of an affected member of the D-kindred showed a normal basal and an elevated stimulated CT level. Clinical examination, ultrasonography, and scintigraphy were normal. Thyroidectomy and bilateral neck dissection revealed a multicentric MTC with no lymph node involvement. In the O-kindred we detected elevated basal and/or stimulated CT levels in three asymptomatic first-degree relatives. At surgery we found a small multicentric MTC in one family member, C-cell hyperplasia in another member, and bilateral lymph node metastases in one member who had been previously thyroidectomized. Basal and stimulated CT estimations in MEN 2 family members provide an effective method for detecting MTC in early, treatable stages.
authors.forename: A
authors.initials: A
authors.lastname: Frilling
authors.forename: P E
authors.initials: PE
authors.lastname: Goretzki
authors.forename: L
authors.initials: L
authors.lastname: Bastian
authors.forename: H D
authors.initials: HD
authors.lastname: Roeher
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000328:Adult; D002116:Calcitonin / Q000097:blood; D002272:Carcinoembryonic Antigen / Q000097:blood; D002277:Carcinoma / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D002272:Carcinoembryonic Antigen; D002116:Calcitonin