首页> 外文期刊>Thyroid: official journal of the American Thyroid Association >Chromosomal aberrations by comparative genomic hybridization in thyroid tumors in patients with familial nonmedullary thyroid cancer.
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Chromosomal aberrations by comparative genomic hybridization in thyroid tumors in patients with familial nonmedullary thyroid cancer.

机译:家族性非髓样甲状腺癌患者甲状腺肿瘤中通过比较基因组杂交的染色体畸变。

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摘要

PURPOSE: Nonmedullary thyroid cancer is the most common form of thyroid cancer and its familial form (FNMTC) is increasingly recognized as a distinct clinical entity. However, the genetic background of FNMTC is still poorly understood and the causative gene(s) have not yet been identified. METHODS: Because comparative genomic hybridization allows for screening of the entire tumor genome simultaneously for chromosomal gains and/or losses without prior knowledge of potential aberrations, we used this technique in thyroid normal and neoplastic samples from FNMTC patients (1) to analyze whether chromosomal aberrations would correlate with inheritance pattern, and/or clinicopathologic features and (2) to compare comparative genomic hybridization (CGH) findings in familial tumors with those already known in sporadic differentiated thyroid cancers. RESULTS: No common germline or somatic chromosomal aberrations were observed in patients with FNMTC because the frequencies and most locations of chromosomal aberrations in familial tumors were also common in sporadic tumors. However, some somatic aberrations were only found in familial tumors (gains in 2q, 3q, 18p, and 19p). Common aberrations in familial tumors corresponded to several locations of candidate genes already reported for sporadic thyroid tumorigenesis. CONCLUSIONS: Our findings suggest that chromosomal aberrations in thyroid tumors in patients with FNMTC are not related to inheritance pattern but rather to tumorigenesis.
机译:目的:非髓样甲状腺癌是甲状腺癌的最常见形式,其家族形式(FNMTC)被越来越多地认为是独特的临床实体。但是,对FNMTC的遗传背景仍然知之甚少,并且尚未鉴定出致病基因。方法:由于比较基因组杂交技术可同时筛查整个肿瘤基因组的染色体增值和/或丢失,而无需事先了解潜在的畸变,因此我们在FNMTC患者的甲状腺正常和肿瘤样本中使用了该技术(1),以分析是否存在染色体畸变(2)将家族性肿瘤中的比较基因组杂交(CGH)结果与散发性甲状腺癌中已知的结果进行比较。结果:由于家族性肿瘤中染色体畸变的频率和大部分位置在散发性肿瘤中也很常见,因此在FNMTC患者中未观察到常见的种系或体细胞染色体畸变。但是,仅在家族性肿瘤中发现了一些躯体畸变(增益分别为2q,3q,18p和19p)。家族性肿瘤中的常见畸变对应于已经报道的散发性甲状腺肿瘤发生的候选基因的几个位置。结论:我们的研究结果表明FNMTC患者甲状腺肿瘤中的染色体畸变与遗传模式无关,而与肿瘤发生有关。

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