ReviewInternational journal of clinical and experimental pathology2012
Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations.
Review in International journal of clinical and experimental pathology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- Gastrointestinal stromal tumors associated with neurofibromatosis 1: a single centre experience and systematic review of the literature including 252 cases.International journal of surgical oncology · 2013Pooled it
- Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST).Molecular genetics & genomic medicine · 2019Trial
- Insights from a Multi-Country Survey: Healthcare Providers' Perspectives on the Management of Adults with Neurofibromatosis Type 1 and Plexiform Neurofibroma.Neurology and therapy · 2026Article
- One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis.Children (Basel, Switzerland) · 2026Article
- An unexpected challenge: intra-abdominal neurofibromatosis during biliary reconstruction: a case report.Annals of medicine and surgery (2012) · 2026Article
- Isolated Anterior Mesenteric Neurofibroma: A Rare Manifestation of Neurofibromatosis Type 1.Cureus · 2026Article
- Isolated Rectal Neurofibroma in the Absence of Neurofibromatosis: Report and Review of Molecular Implications.European journal of case reports in internal medicine · 2026Article
- Case Report: Appendiceal neurofibroma associated with neurofibromatosis type 1: a rare case and systematic review of the literature.Frontiers in surgery · 2026Article
- Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.Reports (MDPI) · 2025Article
- A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy.Journal of the neurological sciences · 2025Article
- A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report.Journal of medical case reports · 2025Article
- Frequency and Characteristics of Gastrointestinal Diseases in Patients With Neurofibromatosis.JGH open : an open access journal of gastroenterology and hepatology · 2025Article
- Unveiling the Rare: A Case Report of Rectal Schwannoma in a Neurofibromatosis Type 1 Patient.Cureus · 2025Article
- A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.Nature communications · 2025Article
- Age-Adapted Diagnostic Evaluation and Treatment of Patients With Type 1 Neurofibromatosis in Germany.Deutsches Arzteblatt international · 2025Review
- A Case for Gastrointestinal Specific Polyps in Neurofibromatosis Type I.Gastro hep advances · 2025Article
- Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research.Global medical genetics · 2024Review
- Appendiceal neurofibroma after resection of multiple gastrointestinal stromal tumors of the small intestine in a patient with neurofibromatosis type 1: a case report.Surgical case reports · 2024Article
- Article
- Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report.Diagnostic pathology · 2023Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF-1, Recklinghausen disease) is the most common hereditary multitumor syndrome with an incidence at birth of approximately 1:3000. However, the significant variation in the expression of the disease not infrequently precludes early diagnosis. As a consequence of non-familiarity with their frequency and wide clinicopathological spectrum, gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognized. Their heterogeneous spectrum ranges from localized microscopic proliferative lesions of autonomic nerves and interstitial cells of Cajal and diffuse microscopic ganglio/neuro/fibromatosis to grossly recognizable mass-forming neurofibromas and gastrointestinal stromal tumors (GIST). Furthermore, neuroendocrine neoplasms, particularly of the periampullary duodenum seem to be quite characteristic of this disease. Based on our own experience and the available literature, this review summarizes and discusses the clinicopathological spectrum of gastrointestinal manifestations of NF-1 including putative proliferative precursor lesions with emphasis on the differential diagnostic aspects of these disorders and their molecular pathogenesis. In addition, this review underlines the great value of specific gastrointestinal findings in uncovering undiagnosed or missed NF-1 cases.
Indexed as
Identifiers
23119102PMC3484498W1584857928What OpenQuestion holds
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.