Familial thyroid neoplasia: impact of technological advances on detection and monitoring.
OBJECTIVE
To weigh the clinical impact of new technological insights into heritable thyroid malignancies.


RESULTS
Medullary thyroid carcinoma and familial nonmedullary thyroid cancers represent the small minority of thyroid cancers that are inherited. New insights into the genetic alterations and molecular mechanisms implicated in these tumors are serving to refine the clinical tools available for their initial diagnosis as well as subsequent follow-up. In addition to an analysis of rearranged during transfection mutations and calcitonin profiles in medullary thyroid carcinoma, this review includes emphasis on familial nonmedullary thyroid cancer syndromes, including genetic findings in familial papillary thyroid cancer, familial adenomatous polyposis, Cowden syndrome, Carney complex, and Werner syndrome.


CONCLUSIONS
Genetic mutational information is increasingly available on medullary and familial nonmedullary thyroid cancer and their associated syndromes. The clinical significance of this information for affected patients and their families continues to undergo evaluation.
Tran
Theresa
T
Division of Endocrinology and Metabolism, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Gianoukakis
Andrew G
AG
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D002116:Calcitonin / Q000097:blood; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics; D018276:Carcinoma, Medullary / Q000151:congenital; D056733:Carney Complex / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics; D014898:Werner Syndrome / Q000175:diagnosis / Q000235:genetics
D002116:Calcitonin