Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene.
Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene.
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甲状腺癌通常发生在没有腺瘤性息肉病大肠杆菌基因双等位基因失活的家族性腺瘤性息肉病患者中。
DOI：
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发表时间：
2001
影响因子：
5.8
通讯作者：
A. Barbarisi
中科院分区：
文献类型：
--
作者：
F. Cetta;M. C. Curia;G. Montalto;M. Gori;A. Cama;P. Battista;A. Barbarisi
甲状腺乳头状癌（PTC）是一种罕见的家族性腺瘤性息肉病的结肠外表现，由腺瘤性息肉病结肠（APC）基因的种系突变决定。本研究的目的是评估APC在甲状腺肿瘤组织中的杂合性缺失的存在。通过限制性内切酶分析和序列分析，对6例年龄在20-36岁的女性患者的样本进行了APC基因的种系和体细胞突变分析。六个中的五个还分析了ret/PTC，这是一种嵌合基因，其激活仅限于乳头状TC。由于先前的研究表明家族性腺瘤性息肉病相关甲状腺癌的生殖系突变位于密码子140和1513之间，因此对APC基因体细胞突变的研究仅限于该基因组区域。6名患者中有3名属于同一家系，在密码子1061处发生了种系突变。其余三个（每个家族一个）分别在密码子1061、1061和1309处发生种系突变。6例患者均无APC杂合性丢失或探索基因组区域（密码子545和密码子1061-1678）的体细胞突变。5例中有4例在甲状腺肿瘤组织中有ret/PTC激活，为ret/PTC 1亚型。APC在甲状腺中具有组织特异性显性效应，或者生殖系突变赋予癌症发展的一般易感性，但TC发展还需要其他因素（性别相关因素，环境辐射，修饰基因）。这通常涉及ret/PTC激活，表明APC功能改变和ret功能获得之间可能存在合作关系。
Papillary thyroid carcinoma (PTC) is a rare extracolonic manifestation of familial adenomatous polyposis, determined by germline mutations of the adenomatous polyposis coli (APC) gene. The aim of this study was to assess the presence of loss of heterozygosity of APC in the thyroid tumoral tissue. Specimens from six female patients, aged 20-36, were analyzed for germline and somatic mutations of the APC gene by restriction enzyme analysis and sequence analysis. Five of the six also had analysis for ret/PTC, a chimeric gene, the activation of which is restricted to papillary TC. Because a previous study showed that germline mutations in familial adenomatous polyposis-associated thyroid carcinoma were located between codons 140 and 1513, the search for somatic mutations of the APC gene was restricted to this genomic area. Three of the six patients, belonging to the same kindred, had a germline mutation at codon 1061. The remaining three, one per kindred, had germline mutations at codons 1061, 1061, and 1309, respectively. None of the six patients had loss of heterozygosity for APC or somatic mutation in the explored genomic area (codon 545 and codons 1061-1678). Four of five had activation of ret/PTC in the thyroid tumoral tissue, as ret/PTC1 isoform. Either APC has a tissue-specific dominant effect in the thyroid gland or the germline mutation confers a generic susceptibility to cancer development, but other factors (sex-related factors, environmental radiation, modifier genes) are also required for TC development. This usually involves ret/PTC activation, suggesting a possible cooperation between altered function of APC and gain of function of ret.
DOI：
10.1210/jcem.79.5.7962323
发表时间：
1994-11
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
K. Zeki;D. Spambalg;Nazy Sharifi;R. Gonsky;J. Fagin
通讯作者：
K. Zeki;D. Spambalg;Nazy Sharifi;R. Gonsky;J. Fagin
对甲状腺肿瘤等位基因丢失的研究揭示了乳头状癌和滤泡状癌之间染色体不稳定性的主要差异。
DOI：
10.1210/jcem.83.2.4550
发表时间：
1998
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Ward,LS;Brenta,G;Medvedovic,M;Fagin,JA
通讯作者：
Fagin,JA