Juvenile polyposis syndrome with germline SMAD4 mutation: case series in tertiary care and critical review of literature.

IF 1.2 4区医学 Q4 GASTROENTEROLOGY & HEPATOLOGY

Acta gastro-enterologica Belgica Pub Date : 2025-07-01 DOI:10.51821/88.3.14375

F Vulsteke, V D'Cruz, L Krott, S Moura Ribeiro, E Van Daele, B Poppe, B Menten, R De Putter, P Hindryckx, A Hoorens, E Callebout, V Casneuf, K Geboes

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Abstract

Background: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder characterized by the presence of multiple hamartomatous polyps in the gastro-intestinal (GI) tract with an increased risk for developing GI cancer. Two causative genes have been identified, of which SMAD4 germline mutations show more upper GI tract involvement and appears to be a more aggressive form. In addition, SMAD4 JPS is linked with hereditary haemorrhagic telangiectasia (HHT).

Case history: We present 4 patients in our tertiary care hospital with a challenging treatment of extensive gastric polyposis who all had a late diagnosis, some of them despite the early discovery of polyposis or colon tumors.

Conclusion: Diagnosing SMAD4 JPS can be challenging but is important for the management of patients. The malignant potential in the upper GI tract is underestimated in clinical practice. Germline genetic analysis should be awaited before performing surgical interventions.

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生殖系SMAD4突变的青少年息肉病综合征：三级护理病例系列和文献综述

背景：青少年息肉病综合征（JPS）是一种罕见的常染色体显性遗传病，其特征是在胃肠道（GI）中存在多个错构瘤息肉，并发胃肠道癌的风险增加。已经确定了两种致病基因，其中SMAD4种系突变显示更多的上消化道参与，并且似乎是一种更具侵略性的形式。此外，SMAD4 JPS与遗传性出血性毛细血管扩张（HHT）有关。病例史：我们在我们的三级保健医院报告了4例广泛胃息肉病的挑战性治疗，他们都是晚期诊断的，其中一些患者尽管早期发现了息肉病或结肠肿瘤。结论：SMAD4 JPS的诊断具有挑战性，但对患者的治疗具有重要意义。在临床上，上消化道的恶性潜能被低估了。在进行手术干预之前，应等待生殖系遗传分析。

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

Acta gastro-enterologica Belgica Medicine-Gastroenterology

CiteScore

2.30

自引率

20.00%

发文量

期刊介绍： The Journal Acta Gastro-Enterologica Belgica principally publishes peer-reviewed original manuscripts, reviews, letters to editors, book reviews and guidelines in the field of clinical Gastroenterology and Hepatology, including digestive oncology, digestive pathology, as well as nutrition. Pure animal or in vitro work will not be considered for publication in the Journal. Translational research papers (including sections of animal or in vitro work) are considered by the Journal if they have a clear relationship to or relevance for clinical hepato-gastroenterology (screening, disease mechanisms and/or new therapies). Case reports and clinical images will be accepted if they represent an important contribution to the description, the pathogenesis or the treatment of a specific gastroenterology or liver problem. The language of the Journal is English. Papers from any country will be considered for publication. Manuscripts submitted to the Journal should not have been published previously (in English or any other language), nor should they be under consideration for publication elsewhere. Unsolicited papers are peer-reviewed before it is decided whether they should be accepted, rejected, or returned for revision. Manuscripts that do not meet the presentation criteria (as indicated below) will be returned to the authors. Papers that go too far beyond the scope of the journal will be also returned to the authors by the editorial board generally within 2 weeks. The Journal reserves the right to edit the language of papers accepted for publication for clarity and correctness, and to make formal changes to ensure compliance with AGEB’s style. Authors have the opportunity to review such changes in the proofs.