Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causality.

IF 2 4区医学 Q3 GASTROENTEROLOGY & HEPATOLOGY

Journal of gastrointestinal oncology Pub Date : 2024-10-31 Epub Date: 2024-09-13 DOI:10.21037/jgo-24-148

Anna Byrjalsen, Sara L Garcia, Line Borgwardt, Karin Wadt, Anne Marie Gerdes, Thomas van Overeem Hansen

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引用次数: 0

Abstract

Background: The occurrence of colorectal cancer (CRC) is increasing among young adults, but the etiology is still largely unknown. In addition to germline monogenetic variants also polygenic risk scores (PRS) have been proven to correctly estimate the risk of CRC.

Case description: We present a 24-year-old male with disseminated colon cancer who carried a germline duplication on chromosome 1 spanning 200 kb and covering CD101, TTF2, MIR942, TRIM45, and parts of PTGFRN and VTCN1. The duplication was located in tandem. A similar duplication was previously reported in a family with CRC among two brothers aged 52 and 61 years old at diagnosis. Particularly, MIR942 was an interesting finding as it is involved in the regulation of the Wnt signaling pathway. Disruption of the Wnt pathway is known to cause CRC. However, in our case the duplication did not segregate with disease in the family. Calculation of a PRS in our patient found an average PRS for CRC.

Conclusions: Our findings do not support that this duplication is a monogenetic cause of CRC, nor did a PRS point towards an increased risk in this 24-year-old male. Whether the duplication is a risk factor in combination with other genetic and non-genetic risk factors requires further studies.

查看原文本刊更多论文

在患有结肠癌的年轻男性中发现罕见的种系 1 号染色体重复：一份因果关系调查病例报告。

背景：结直肠癌（CRC）在年轻人中的发病率越来越高，但其病因在很大程度上仍然不明。除了种系单基因变异外，多基因风险评分（PRS）也已被证明能正确估计患 CRC 的风险：我们介绍了一名患有播散性结肠癌的 24 岁男性患者，他的 1 号染色体上有一个长达 200 kb 的种系重复序列，涵盖 CD101、TTF2、MIR942、TRIM45 以及 PTGFRN 和 VTCN1 的一部分。该重复位于串联位置。此前曾有报道称，在一个患有 CRC 的家族中，有两兄弟在确诊时分别为 52 岁和 61 岁，也出现了类似的重复。特别是 MIR942 是一个有趣的发现，因为它参与了 Wnt 信号通路的调控。众所周知，Wnt 信号通路的中断会导致癌症。然而，在我们的病例中，重复基因与家族中的疾病并不分离。在计算我们患者的 PRS 时，发现其平均 PRS 为 CRC：我们的研究结果并不支持该重复基因是导致 CRC 的单基因病因，PRS 也不表明这名 24 岁男性的风险会增加。至于该重复基因是否是一个与其他遗传和非遗传风险因素相结合的风险因素，还需要进一步研究。

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

Journal of gastrointestinal oncology Medicine-Oncology

CiteScore

3.20

自引率

0.00%

发文量

171

期刊介绍： ournal of Gastrointestinal Oncology (Print ISSN 2078-6891; Online ISSN 2219-679X; J Gastrointest Oncol; JGO), the official journal of Society for Gastrointestinal Oncology (SGO), is an open-access, international peer-reviewed journal. It is published quarterly (Sep. 2010- Dec. 2013), bimonthly (Feb. 2014 -) and openly distributed worldwide. JGO publishes manuscripts that focus on updated and practical information about diagnosis, prevention and clinical investigations of gastrointestinal cancer treatment. Specific areas of interest include, but not limited to, multimodality therapy, markers, imaging and tumor biology.