Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

• Published in: Journal of endocrinological investigation Vol. 32; no. 5; pp. 426 - 429
• Main Authors: Raitila, A., Georgitsi, M., Bonora, E., Vargiolu, M., Tuppurainen, K., Mäkinen, M. J., Vierimaa, O., Salmela, P. I., Launonen, V., Vahteristo, P., Aaltonen, L. A., Romeo, G., Karhu, Auli
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.05.2009
• Subjects: Adenoma - genetics; Adolescent; Adult; Aged; Child; DNA Mutational Analysis; Endocrinology; Female; Gene Frequency; Genetic Predisposition to Disease; Germ-Line Mutation - physiology; Humans; Intracellular Signaling Peptides and Proteins - genetics; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Middle Aged; Original Articles; Polymorphism, Single Nucleotide; Thyroid Neoplasms - genetics; Young Adult; AIP; familial NMTC; thyroid cancer; germline mutation
• ISSN: 0391-4097; 1720-8386
• DOI: 10.1007/BF03346480

Background : Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods : To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results : No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient’s follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion : Our study indicates that germline AIP mutations are rare or do not exist in familial NMTC.