ArticleExperimental hematology & oncology2022
Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.
Article in Experimental hematology & oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 17 citations in OpenAlex.
- Heterogeneity in primary gastrointestinal DLBCL: from clinical management to molecular mechanisms and treatment strategies.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- SPEN Loss Drives Extrafollicular Diffuse Large B-cell Lymphoma with Female-Specific Lethality and Therapeutic Vulnerabilities.Cancer discovery · 2026Article
- Decoding IGLL5 Mutation-Mediated BCR Signaling: A Novel Mechanism of CD8Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Anatomical laterality of primary intestinal diffuse large B-cell lymphoma independently stratifies survival: New prognostic nomogram incorporating tumor location.World journal of gastroenterology · 2026Article
- Case Report: longitudinal immunoglobulin abnormalities preceding IgA-λ MGUS and colonic DLBCL: a case suggesting immune-driven B-cell dysregulation.Frontiers in oncology · 2026Article
- Clinical characteristics and prognostic analysis of three hundred and nineteen cases of primary gastrointestinal diffuse large B-cell lymphoma.World journal of gastrointestinal oncology · 2025Article
- Metabolism-related ALDH1B1 acts as potential predictor and therapeutic target for primary gastrointestinal diffuse large B-cell lymphoma.Apoptosis : an international journal on programmed cell death · 2025Article
- Genomic mutation profile and metabolic alterations in diffuse large B-cell lymphoma with abdominal bulky mass.Annals of hematology · 2025Article
- Genomic characteristics and prognostic correlations in Chinese multiple myeloma patients.BMC medical genomics · 2025Article
- Pan-Cancer Insights: A Study of Microbial Metabolite Receptors in Malignancy Dynamics.Cancers · 2024Article
- Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.International journal of molecular sciences · 2024Article
- Molecular targets of glucocorticoids that elucidate their therapeutic efficacy in aggressive lymphomas.Cancer cell · 2024Article
- Dynamic monitoring of circulating tumor DNA reveals outcomes and genomic alterations in patients with relapsed or refractory large B-cell lymphoma undergoing CAR T-cell therapy.Journal for immunotherapy of cancer · 2024Article
- Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303.Blood advances · 2023Article
- NTRK fusion protein expression is absent in a large cohort of diffuse large B-cell lymphoma.Frontiers in oncology · 2023Article
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13 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundDiffuse large B-cell lymphoma (DLBCL) is the most common aggressive non-Hodgkin lymphoma, and about 10% of DLBCL cases primarily occur in the gastrointestinal tract. Previous reports have revealed that primary gastrointestinal-DLBCL (pGI-DLBCL) harbors different genetic mutations from other nodal or extranodal DLBCL. However, the exonic mutation profile of pGI-DLBCL has not been fully addressed.
methodsWe performed whole-exome sequencing of matched tumor tissues and blood samples from 53 pGI-DLBCL patients. The exonic mutation profiles were screened, and the correlations between genetic mutations and clinicopathological characteristics were analyzed.
resultsA total of 6,588 protein-altering events were found and the five most frequent mutated genes in our pGI-DLBCL cohort were IGLL5 (47%), TP53 (42%), BTG2 (28%), P2RY8 (26%) and PCLO (23%). Compared to the common DLBCL, significantly less or absence of MYD88 (0%), EZH2 (0%), BCL2 (2%) or CD79B (8%) mutations were identified in pGI-DLBCL. The recurrent potential driver genes were mainly enriched in pathways related to signal transduction, infectious disease and immune regulation. In addition, HBV infection had an impact on the mutational signature in pGI-DLBCL, as positive HBsAg was significantly associated with the TP53 and LRP1B mutations, two established tumor suppressor genes in many human cancers. Moreover, IGLL5 and LRP1B mutations were significantly correlated with patient overall survival and could serve as two novel prognostic biomarkers in pGI-DLBCL.
conclusionsOur study provides a comprehensive view of the exonic mutation profile of the largest pGI-DLBCL cohort to date. The results could facilitate the clinical development of novel therapeutic and prognostic biomarkers for pGI-DLBCL.
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