ArticleVirchows Archiv : an international journal of pathology2018
Mutational and copy number asset of primary sporadic neuroendocrine tumors of the small intestine.
Article in Virchows Archiv : an international journal of pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Prognostic and Predictive Significance of Selected Gene Mutations in Pancreatic and Intestinal Neuroendocrine Tumors.International journal of molecular sciences · 2026Review
- Cadherin 19 deficiency inhibits osteogenic differentiation and bone formation by regulating PI3K/AKT signaling pathway.Stem cell research & therapy · 2026Article
- Molecular alterations in high-grade neuroendocrine tumors of the small intestine.The Journal of pathology · 2026Article
- p27Cells · 2025Article
- Functional Copy-Number Alterations as Diagnostic and Prognostic Biomarkers in Neuroendocrine Tumors.International journal of molecular sciences · 2024Article
- Molecular Classification of Gastrointestinal and Pancreatic Neuroendocrine Neoplasms: Are We Ready for That?Endocrine pathology · 2024Review
- Multi-omic dataset of patient-derived tumor organoids of neuroendocrine neoplasms.GigaScience · 2024Article
- Interim Analysis of a Prospective Validation of 2 Blood-Based Genomic Assessments (PPQ and NETest) to Determine the Clinical Efficacy ofJournal of nuclear medicine : official publication, Society of Nuclear Medicine · 2023Article
- Long-term organoid culture of a small intestinal neuroendocrine tumor.Frontiers in endocrinology · 2023Article
- Systemic Therapy of Advanced Well-differentiated Small Bowel Neuroendocrine Tumors Progressive on Somatostatin Analogues.Current treatment options in oncology · 2022Review
- Whole genome sequencing reveals the independent clonal origin of multifocal ileal neuroendocrine tumors.Genome medicine · 2022Article
- Review
- Review
- Genetic Drivers of Ileal Neuroendocrine Tumors.Cancers · 2021Review
- Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.Endocrine · 2021Article
- A Subset of Large Cell Neuroendocrine Carcinomas in the Gastroenteropancreatic Tract May Evolve from Pre-existing Well-Differentiated Neuroendocrine Tumors.Endocrine pathology · 2021Article
- Article
- Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.Signal transduction and targeted therapy · 2021Article
- Neuroendocrine neoplasia of the gastrointestinal tract revisited: towards precision medicine.Nature reviews. Endocrinology · 2020Review
- Molecular profiling of neuroendocrine tumours to predict response and toxicity to peptide receptor radionuclide therapy.The Lancet. Oncology · 2020Review
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Authors and funding
16 authors.
Funding
Abstract
Small intestine neuroendocrine tumors (SI-NETs) represent the most common histotype among small intestine neoplasms, and metastatic disease is usually present at diagnosis. A retrospective series of 52 sporadic primary surgically resected SI-NETs, which were metastatic at diagnosis, was analyzed by high-coverage target sequencing (HCTS) for the mutational status of 57 genes and copy number status of 40 genes selected from recently published genome sequencing data. Seven genes were found to be recurrently mutated: CDKN1B (9.6%), APC and CDKN2C (each 7.7%), BRAF, KRAS, PIK3CA, and TP53 (each 3.8%). Copy number analysis showed frequent allelic loss of 4 genes located on chromosome 18 (BCL2, CDH19, DCC, and SMAD4) in 23/52 (44.2%) and losses on chromosomes 11 (38%) and 16 (15%). Other recurrent copy number variations were gains for genes located on chromosomes 4 (31%), 5 (27%), 14 (36%), and 20 (20%). Univariate survival analysis showed that SRC gene copy number gains were associated with a poorer prognosis (p = 0.047). Recurrent copy number variations are important events in SI-NET and SRC may represent a novel prognostic biomarker for this tumor type.
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