Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.

IF 2.7 Q3 ENDOCRINOLOGY & METABOLISM Expert Review of Endocrinology & Metabolism Pub Date : 2022-11-01 DOI:10.1080/17446651.2022.2144228

Thomas Eggermann, Dirk Prawitt

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引用次数: 2

Abstract

Introduction: Paternal uniparental disomy of chromosome 11 (upd(11)pat) accounts for up to 20% of molecularly confirmed Beckwith-Wiedemann spectrum (BWSp) cases. It belongs to the BWSp subgroup with the second highest tumor risk, and therefore needs particular awareness in research, diagnostics and clinical management.

Areas covered: We overview the contribution of paternal (mosaic) uniparental disomy of chromosome 11 (UPD, upd(11)pat) and mosaic paternal uniparental diploidy in patients with Beckwith-Wiedemann features. The review comprises the current knowledge on their formation and their molecular and clinical consequences. Accordingly, the consequences for diagnostic testing and clinical monitoring are compiled.

Expert opinion: The necessity to diagnostically identify and thus discriminate genome-wide paternal uniparental disomy, and upd(11)pat becomes obvious, due to the differences in the clinical course, disease prognosis, and treatment. In particular, monitoring of tumor development by liquid biopsy might be a promising option in the future. From the research point of view, it should be addressed why 11p is prone to mitotic recombination and thus also provide to the role of upd(11) as second hit in tumorigenesis.

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对贝克威思-魏德曼综合征父系单亲畸形的进一步认识。

11号染色体父系单染色体二体(upd(11)部分)占分子确诊贝克威氏谱(BWSp)病例的20%。它属于BWSp亚群，肿瘤风险第二高，因此在研究、诊断和临床管理中需要特别注意。涵盖的领域:我们概述了11号染色体父系(马赛克)单倍体(UPD, UPD(11)部分)和马赛克父系单倍体在贝克withwithwiedemann特征患者中的贡献。这篇综述包括目前关于它们的形成及其分子和临床后果的知识。因此，对诊断测试和临床监测的后果进行了汇编。专家意见:由于临床病程、疾病预后和治疗的差异，诊断识别并因此区分全基因组父系单亲二体和upd(11)部分的必要性变得明显。特别是，通过液体活检来监测肿瘤的发展可能是一个很有前途的选择。从研究的角度来看，应该解决11p容易发生有丝分裂重组的原因，从而也提供了upd(11)在肿瘤发生中的第二打击作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Endocrinology & Metabolism ENDOCRINOLOGY & METABOLISM-

CiteScore

4.80

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0.00%

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期刊介绍： Implicated in a plethora of regulatory dysfunctions involving growth and development, metabolism, electrolyte balances and reproduction, endocrine disruption is one of the highest priority research topics in the world. As a result, we are now in a position to better detect, characterize and overcome the damage mediated by adverse interaction with the endocrine system. Expert Review of Endocrinology and Metabolism (ISSN 1744-6651), provides extensive coverage of state-of-the-art research and clinical advancements in the field of endocrine control and metabolism, with a focus on screening, prevention, diagnostics, existing and novel therapeutics, as well as related molecular genetics, pathophysiology and epidemiology.