ArticleDigestive diseases and sciences2004
Neurofibromatosis with gastrointestinal stromal tumors: insights into the association.
Article in Digestive diseases and sciences, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 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
- Frequency and Characteristics of Gastrointestinal Diseases in Patients With Neurofibromatosis.JGH open : an open access journal of gastroenterology and hepatology · 2025Article
- A Case of Duodenal Neuroendocrine Tumor Accompanied by Gastrointestinal Stromal Tumors in Type 1 Neurofibromatosis Complicated by Life-Threatening Vascular Lesions.The American journal of case reports · 2021Article
- Gastrointestinal Stromal Tumor or Malignant Peripheral Nerve Sheath Tumor? An Enigmatic Mass.Kansas journal of medicine · 2021Article
- Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.Cancer management and research · 2021Article
- A Huge Pelvic-Abdominal Malignant GIST Tumour in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.Case reports in oncological medicine · 2020Article
- Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I.Journal of gastroenterology · 2016Article
- Pancreaticoduodenectomy in patients with type 1 Neurofibromatosis: Report of two cases and literature review.International journal of surgery case reports · 2016Article
- Coincident liposarcoma, carcinoid and gastrointestinal stromal tumor complicating type 1 neurofibromatosis: Case report and literature review.Journal of orthopaedics · 2015Review
- Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1.Journal of the Korean Surgical Society · 2011Article
- Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2010Review
- Laparoscopic resection of sporadic synchronous gastric and jejunal gastrointestinal stromal tumors: report of a case.Surgery today · 2009Article
- Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.Journal of medical genetics · 2007Article
- Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1.Digestive diseases and sciences · 2006Article
- An update on molecular genetics of gastrointestinal stromal tumours.Journal of clinical pathology · 2006Review
- Multiple gastrointestinal stromal tumors of the ileum and neurofibromatosis type 1.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2006Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The frequent association of stromal tumors with neurofobromatosis raises high suspicion of a possible correlation between the two entities. The aim of this study was to analyze clinicopathologic features of patients with concomitant neurofibromatosis and gastrointestinal stromal tumors and to discuss the molecular basis for their possible pathogenesis. Detailed information about clinical presentation, histology, immunostains, polymerase chain reaction amplification, and sequencing in three of our own cases was obtained. Stromal tumors presented with abdominal pain in one case and hemorrhage in another. One patient underwent surgery for malignant transformation of neurofibroma and stromal tumors were found incidentally. Stromal tumors were consistently positive for CD117, while the malignant peripheral sheath tumor was not. Mutation in the KIT juxtamembrane domain was found in one case. In this respect, some stromal tumors lack demonstrable KIT mutations but KIT remains activated. We reasoned that other mechanisms, like the Ras pathway involved in neurofibromatosis type 1, might play a role in KIT activation.
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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.