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首页> 外文期刊>Applied Translational Genomics >Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor
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Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor

机译：部分KCNQ1OT1甲基化不足：伪装的家族性Beckwith-Wiedemann综合征为散发性肾上腺皮质肿瘤

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摘要

Beckwith-Wiedemann syndrome has a wide spectrum of complications such as embryonal tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging manifestations of this syndrome. A 45-day old female with a family history of adrenocortical tumor presented with adrenocortical tumor. The case raised suspicion of a hereditary Beckwith-Wiedemann syndrome, therefore molecular analysis was undertaken. The results revealed partial KCNQ1OT1 hypomethylation in the infant's blood DNA which was associated with a complete loss of methylation in the infant's adrenocortical tumor tissue. It is unique for familial Beckwith-Wiedemann syndrome caused by KCNQ1OT1 partial hypomethylation to manifest solely through adrenocortical tumor. Incomplete penetrance and specific tissue mosaicism could provide explanations to this novel hereditary Beckwith-Wiedemann syndrome presentation.
机译：Beckwith-Wiedemann综合征具有多种并发症，例如胚胎性肿瘤，即肾上腺皮质肿瘤。肿瘤易感性是该综合征最具挑战性的表现之一。一位45天大的女性，有肾上腺皮质肿瘤家族史，并伴有肾上腺皮质肿瘤。该病例令人怀疑是遗传性贝克威斯-维德曼综合征，因此进行了分子分析。结果表明，婴儿血液DNA中的部分KCNQ1OT1低甲基化与婴儿肾上腺皮质肿瘤组织中甲基化的完全丧失有关。由KCNQ1OT1部分低甲基化引起的家族性Beckwith-Wiedemann综合征仅通过肾上腺皮质肿瘤表现出来是独特的。不完整的外露和特定的组织镶嵌可以为这种新颖的遗传性贝克威斯-维德曼综合症的表现提供解释。

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