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.
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 adenomapatient 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.
Authors: C D Malchoff; M Sarfarazi; B Tendler; F Forouhar; G Whalen; V Joshi; A Arnold; D M Malchoff Journal: J Clin Endocrinol Metab Date: 2000-05 Impact factor: 5.958
Authors: A Raitila; M Georgitsi; A Karhu; K Tuppurainen; M J Mäkinen; K Birkenkamp-Demtröder; K Salmenkivi; T F Orntoft; J Arola; V Launonen; P Vahteristo; L A Aaltonen Journal: Endocr Relat Cancer Date: 2007-09 Impact factor: 5.678
Authors: Marianthi Georgitsi; Anniina Raitila; Auli Karhu; Karoliina Tuppurainen; Markus J Mäkinen; Outi Vierimaa; Ralf Paschke; Wolfgang Saeger; Rob B van der Luijt; Timo Sane; Mercedes Robledo; Ernesto De Menis; Robert J Weil; Anna Wasik; Grzegorz Zielinski; Olga Lucewicz; Jan Lubinski; Virpi Launonen; Pia Vahteristo; Lauri A Aaltonen Journal: Proc Natl Acad Sci U S A Date: 2007-02-28 Impact factor: 11.205
Authors: Rodrigo A Toledo; Delmar M Lourenço; Bernardo Liberman; Malebranche B C Cunha-Neto; Maria G Cavalcanti; Cinthia B Moyses; Sergio P A Toledo; Patricia L M Dahia Journal: J Clin Endocrinol Metab Date: 2007-03-06 Impact factor: 5.958
Authors: F Ceccato; G Occhi; N M Albiger; S Rizzati; S Ferasin; G Trivellin; F Mantero; C Scaroni Journal: J Endocrinol Invest Date: 2010-07-01 Impact factor: 4.256
Authors: Anniina Raitila; Heli J Lehtonen; Johanna Arola; Elina Heliövaara; Manuel Ahlsten; Marianthi Georgitsi; Anu Jalanko; Anders Paetau; Lauri A Aaltonen; Auli Karhu Journal: Am J Pathol Date: 2010-08-13 Impact factor: 4.307