ArticleGut2022
Oncogenetic landscape of lymphomagenesis in coeliac disease.
Article in Gut, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- European Society for the Study of Coeliac Disease (ESsCD) 2025 Updated Guidelines on the Diagnosis and Management of Coeliac Disease in Adults. Part 2: Management, Follow-Up, and Complex Disease Courses.United European gastroenterology journal · 2026Guideline
- Refractory Celiac Disease: Nutritional Failure, Immune Dysregulation, and Lymphomagenesis.Nutrients · 2026Review
- Cancer Risk in Clinically Recognized Celiac Disease: A Nationwide Propensity-Matched Cohort Study.Medical sciences (Basel, Switzerland) · 2026Article
- Divergent molecular pathways drive monomorphic epitheliotropic and enteropathy-associated intestinal T-cell lymphoma.Leukemia · 2026Article
- Innate immune dysregulation in celiac disease and refractory celiac disease: mechanisms, management and emerging therapies.Frontiers in immunology · 2026Review
- All roads lead to NF-κB: the NF-κB pathway as a major target for intestinal inflammatory disorders.Frontiers in immunology · 2026Review
- Immunophenotyping and Mutation Analysis of Canine Intestinal T-Cell Lymphoma: A Comparative Pathological Study of Human Enteropathy-Associated T-Cell Lymphoma.Veterinary and comparative oncology · 2025Article
- The Significance of the Microenvironment in T/Nk-Cell Neoplasms.International journal of molecular sciences · 2025Review
- Common origins of autoimmune diseases and lymphoid malignancies.Trends in immunology · 2025Review
- Management Strategy for Non-Responsive and Refractory Celiac Disease in Adults: A Review Article.Journal of clinical medicine · 2025Review
- Malignancies in Celiac Disease-A Hidden Threat with Diagnostic Pitfalls.Biomedicines · 2025Review
- Coeliac disease: complications and comorbidities.Nature reviews. Gastroenterology & hepatology · 2025Review
- Comprehensive investigation of gene mutations in canine large cell gastrointestinal lymphoma.Frontiers in veterinary science · 2025Article
- Activated CD27Gastro hep advances · 2025Article
- Article
- A practical approach to the modern diagnosis and classification of T- and NK-cell lymphomas.Blood · 2024Review
- Investigation of the mutations in the genes involved in Janus kinase/signal transducer and activator of transcription pathway in canine large cell gastrointestinal lymphoma.The Journal of veterinary medical science · 2024Article
- Refractory Celiac Disease: What the Gastroenterologist Should Know.International journal of molecular sciences · 2024Review
- Evolution in coeliac disease diagnosis and management.JGH open : an open access journal of gastroenterology and hepatology · 2024Review
- Budesonide Induces Favourable Histologic and Symptomatic Recovery in Patients with Non-responsive and Refractory Coeliac Disease When Given in an Open Capsule Format.Digestive diseases and sciences · 2024Article
Corrections and comments
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Authors and funding
24 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveEnteropathy-associated T-cell lymphoma (EATL) is a rare but severe complication of coeliac disease (CeD), often preceded by low-grade clonal intraepithelial lymphoproliferation, referred to as type II refractory CeD (RCDII). Knowledge on underlying oncogenic mechanisms remains scarce. Here, we analysed and compared the mutational landscape of RCDII and EATL in order to identify genetic drivers of CeD-associated lymphomagenesis.
designPure populations of RCDII-cells derived from intestinal biopsies (n=9) or sorted from blood (n=2) were analysed by whole exome sequencing, comparative genomic hybridisation and RNA sequencing. Biopsies from RCDII (n=50), EATL (n=19), type I refractory CeD (n=7) and uncomplicated CeD (n=18) were analysed by targeted next-generation sequencing. Moreover, functional in vitro studies and drug testing were performed in RCDII-derived cell lines.
results80% of RCDII and 90% of EATL displayed somatic gain-of-functions mutations in the JAK1-STAT3 pathway, including a remarkable p.G1097 hotspot mutation in the JAK1 kinase domain in approximately 50% of cases. Other recurrent somatic events were deleterious mutations in nuclear factor kappa-light-chain-enhancer of activated B-cells (NF-κB) regulators TNFAIP3 and TNIP3 and potentially oncogenic mutations in TET2, KMT2D and DDX3X. JAK1 inhibitors, and the proteasome inhibitor bortezomib could block survival and proliferation of malignant RCDII-cell lines.
conclusionMutations activating the JAK1-STAT3 pathway appear to be the main drivers of CeD-associated lymphomagenesis. In concert with mutations in negative regulators of NF-κB, they may favour the clonal emergence of malignant lymphocytes in the cytokine-rich coeliac intestine. The identified mutations are attractive therapeutic targets to treat RCDII and block progression towards EATL.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.