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 A
Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
J Endocrinol Invest. 2009 May;32(5):426-9. doi: 10.1007/BF03346480.
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.
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.
Our study indicates that germline AIP mutations are rare or do not exist in familial NMTC.
所有甲状腺恶性肿瘤中超过95%为非髓样甲状腺癌（NMTC）。与散发性癌相比，家族性NMTC侵袭性更强且死亡率更高。已知的遗传因素并不能解释所有家族性NMTC。最近，在芳烃受体相互作用蛋白（AIP）发生种系突变的家族中观察到甲状腺疾病，但由于这些情况在人群中经常出现，这种共现的意义尚不清楚。目的、研究对象与方法：为了研究AIP是否与家族性NMTC有关，我们对93例家族性NMTC病例进行了AIP突变筛查。此外，在另一队列中一名已知AIP突变的滤泡性甲状腺腺瘤患者中研究了AIP状态。
未发现潜在的致病性改变，但检测到两个可能罕见的多态性。AIP突变阳性患者的滤泡性甲状腺腺瘤未显示杂合性缺失或免疫组化AIP染色缺失。
我们的研究表明，种系AIP突变在家族性NMTC中罕见或不存在。
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