ArticleJournal of clinical medicine2021
Gene Expression Landscape of SDH-Deficient Gastrointestinal Stromal Tumors.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Needle tract seeding and abdominal recurrence following pre-treatment biopsy of gastrointestinal stromal tumors (GIST): results of a systematic review.BMC surgery · 2022Pooled it
- Rare Molecular Variants of Gastrointestinal Stromal Tumors (GISTs): Clinical Implications and Overview of Current Evidence.Targeted oncology · 2026Review
- Identifying Early Responders to Dry Needling for Lower-Limb Spasticity in Multiple Sclerosis: A Secondary Responder Analysis of a Pilot Randomized Controlled Trial.Brain sciences · 2026Article
- Comparative analysis of library preparation approaches for FFPE gene expression profiling and related recommendations.Scientific reports · 2025Article
- Metabolic Effects of Succinate Dehydrogenase Loss in Cancer.Journal of cellular physiology · 2025Review
- Regulatory roles of non-coding RNAs in programmed cell death pathways and drug resistance in gastrointestinal stromal tumors.Clinical and experimental medicine · 2025Review
- Potential Roles of Long Non-coding RNAs in the Pathogenesis of Periodontitis: Inflammation Response, Immune Infiltration, Collagen Fibers Synthesis, and Bone Remodeling.Current medicinal chemistry · 2025Article
- Exploring the critical role of SDHA in breast cancer proliferation: implications for novel therapeutic strategies.American journal of translational research · 2025Article
- Similar deficiencies, different outcomes: succinate dehydrogenase loss in adrenal medulla vs. fibroblast cell culture models of paraganglioma.Cancer & metabolism · 2024Article
- Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research.Global medical genetics · 2024Review
- The effects of resistance training on cardiovascular factors and anti-inflammation in diabetic rats.Heliyon · 2024Article
- The immunotherapy in gastrointestinal stromal tumors.Heliyon · 2024Review
- Precision Oncology in Gastrointestinal Stromal Tumors.Current oncology (Toronto, Ont.) · 2023Review
- Review
- The relationship between Ki-67 expression and imaging signs and pathological features in GISTs.Frontiers in surgery · 2023Article
- Succinate uptake by T cells suppresses their effector function via inhibition of mitochondrial glucose oxidation.Cell reports · 2022Article
- Compassionate Use of Ripretinib for Patients With Metastatic Gastrointestinal Stromal Tumors: Taiwan and Hong Kong Experience.Frontiers in oncology · 2022Article
- Targeted therapy inTherapeutic advances in medical oncology · 2021Review
- Aggressive Fibromatosis of the Left Mesocolon Mimicking a Gastrointestinal Stromal Tumor: A Case Report.Case reports in oncologyArticle
- Synchronous Rectal Adenocarcinoma and Sigmoid Gastrointestinal Stromal Tumor: A Case Report.Case reports in oncologyArticle
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAbout 20-40% of gastrointestinal stromal tumors (GISTs) lacking KIT/PDGFRA mutations show defects in succinate dehydrogenase (SDH) complex. This study uncovers the gene expression profile (GEP) of SDH-deficient GIST in order to identify new signaling pathways or molecular events actionable for a tailored therapy.
methodsWe analyzed 36 GIST tumor samples, either from formalin-fixed, paraffin-embedded by microarray or from fresh frozen tissue by RNA-seq, retrospectively collected among KIT-mutant and SDH-deficient GISTs. Pathway analysis was performed to highlight enriched and depleted transcriptional signatures. Tumor microenvironment and immune profile were also evaluated.
resultsSDH-deficient GISTs showed a distinct GEP with respect to KIT-mutant GISTs. In particular, SDH-deficient GISTs were characterized by an increased expression of neural markers and by the activation of fibroblast growth factor receptor signaling and several biological pathways related to invasion and tumor progression. Among them, hypoxia and epithelial-to-mesenchymal transition emerged as features shared with SDH-deficient pheochromocytoma/paraganglioma. In addition, the study of immune landscape revealed the depletion of tumor microenvironment and inflammation gene signatures.
conclusionsThis study provides an update of GEP in SDH-deficient GISTs, highlighting differences and similarities compared to KIT-mutant GISTs and to other neoplasm carrying the SDH loss of function. Our findings add a piece of knowledge in SDH-deficient GISTs, shedding light on their putative histology and on the dysregulated biological processes as targets of new therapeutic strategies.
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