Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: a case report and review of the literature
Open accessAbstract
Neurofibromatosis type 1 (NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiple rectal neuroendocrine tumors have been reported. This report describes a case of a 39 year old female with NF-1 and intermittent hematochezia as a primary symptom. Physical examination showed multiple subcutaneous nodules and café au lait spots with obvious scoliosis of the back. Imaging examinations and colonoscopy found malformation of the left external iliac vein and multiple gray-yellow nodules with varying sizes and shapes in the rectal submucosal layer. Histological and immunohistochemical results suggested multiple rectal neuroendocrine tumors, a rare disease with few appreciable symptoms and a particularly poor prognosis. The patient with NF-1 presented here had not only multiple rectal neuroendocrine neoplasms but also vascular malformations, scoliosis and other multiple system lesions. This case therefore contributes to improving clinical understanding, diagnosis and treatment of related complications for patients with NF-1 who present with associated medical conditions.
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NF1 patients can develop a range of intra-abdominal tumors, including plexiform neurofibromas, malignant peripheral nerve sheath tumors, gastrointestinal stromal tumors related to interstitial cells of Cajal hyperplasia, neuroendocrine tumors, and embryonal tumors such as rhabdomyosarcoma.
“NF1 patients can develop a range of intra-abdominal tumors, including plexiform neurofibromas, malignant peripheral nerve sheath tumors, gastrointestinal stromal tumors related to interstitial cells of Cajal hyperplasia, neuroendocrine tumors, and embryonal tumors such as rhabdomyosarcoma (Dare et al., 2020; Xie et al., 2018).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Xie et al., 2018
The Introduction (page unavailable) says NF1 can be associated with stromal and neuroendocrine tumors, and the case report documents rectal neuroendocrine tumors. Our copy does not identify plexiform neurofibromas, malignant peripheral nerve sheath tumors, interstitial cells of Cajal hyperplasia, or rhabdomyosarcoma as part of the claimed range. (LLM, conf=0.87)
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- Authors
- Xie, R., Fu, K.-I., Chen, S.-M., Tuo, B.-G., & Wu, H.-C.
- Affiliations
- Zunyi Medical University (CN)
- ORCID
- Xie, Rui
- Venue
- World Journal of Gastroenterology
- Publisher
- Baishideng Publishing Group Inc.
- Published
- 2018-09-07
- Volume
- 24
- Issue
- 33
- Pages
- 3806-3812
- ISSN
- 1007-9327 (ISSN-L)
- PMC
- PMC6127664
- OpenAlex
- W2890886909
- Cited by
- 12
- References
- 32
- Citations by year
- 2026: 2 · 2025: 1 · 2023: 3 · 2022: 1 · 2021: 2 · 2020: 2 · 2019: 1
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- World Journal of Gastroenterology (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
- Health Sciences › Medicine › Epidemiology › Neuroendocrine Tumor Research Advances
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
- Keywords
- neurofibromatosis type 1, rectal neuroendocrine tumors, hematochezia, café-au-lait spots, scoliosis, vascular malformations, subcutaneous neurofibromas, prognosis
- MeSH terms
- Adult, Colonoscopy, Female, Gastrointestinal Hemorrhage, Humans, Magnetic Resonance Imaging, Neoplasms, Multiple Primary, Neurofibromatosis 1, Rectal Neoplasms, Rectum, Scoliosis, Skin Neoplasms, Tomography, X-Ray Computed, Neuroendocrine Tumors, Vascular Malformations, Watchful Waiting
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