Kubas Aleksandra, Małecka-Wojciesko Ewa
Department of Digestive Tract Diseases, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, Poland.
Biomedicines. 2025 Jun 19;13(6):1507. doi: 10.3390/biomedicines13061507.
Celiac disease (CeD) is an autoimmune disorder that is triggered by gluten ingestion in genetically predisposed individuals. Untreated or poorly controlled CeD leads to various disease complications, such as malnutrition, osteoporosis, autoimmune diseases, or refractory celiac disease (RCD). Accumulating recent research has highlighted the association between CeD and the development of malignancies, particularly enteropathy-associated T-cell lymphoma (EATL) and small bowel carcinoma (SBC), which are neoplasms with extremely poor prognoses. Genetic alterations in the JAK1-STAT3 pathway and the high prevalence of microsatellite instability may be the main drivers of CeD-associated lymphomagenesis and small bowel oncogenesis and therefore could be an attractive therapeutic target to block cancer transformation. However, to date, the risk factors and exact mechanisms underlying malignancy development in patients with CeD remain unclear, and prospective cohort studies that include molecular profiling are needed. Moreover, current guidelines on the management of CeD do not provide standardized protocols for cancer surveillance-particularly regarding screening intervals, risk stratification, and monitoring strategies for high-risk patients such as those with RCD. This paper reviews the existing knowledge on malignancies in CeD, highlights diagnostic challenges, and discusses future perspectives on the early detection, monitoring, and treatment of CeD-associated neoplasms.
乳糜泻（CeD）是一种自身免疫性疾病，在具有遗传易感性的个体中，由摄入麸质引发。未经治疗或控制不佳的CeD会导致各种疾病并发症，如营养不良、骨质疏松症、自身免疫性疾病或难治性乳糜泻（RCD）。最近越来越多的研究强调了CeD与恶性肿瘤发生之间的关联，特别是肠病相关T细胞淋巴瘤（EATL）和小肠癌（SBC），这些肿瘤的预后极差。JAK1-STAT3通路的基因改变和微卫星不稳定性的高发生率可能是CeD相关淋巴瘤发生和小肠肿瘤发生的主要驱动因素，因此可能是阻止癌症转化的一个有吸引力的治疗靶点。然而，迄今为止，CeD患者发生恶性肿瘤的危险因素和确切机制仍不清楚，需要开展包括分子分析的前瞻性队列研究。此外，目前关于CeD管理的指南并未提供癌症监测的标准化方案，特别是关于筛查间隔、风险分层以及对RCD等高危患者的监测策略。本文综述了关于CeD中恶性肿瘤的现有知识，强调了诊断挑战，并讨论了CeD相关肿瘤早期检测、监测和治疗的未来前景。
