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Long-Term Follow-up of von Recklinghausen Neurofibromatosis
Abstract
To document the natural history of von Recklinghausen neurofibromatosis, we followed up a nationwide cohort of 212 affected patients and families identified in Denmark 42 years ago. We obtained follow-up information on 99 percent. Because all 76 probands were identified through hospitals, they may include a disproportionate number of severe cases of neurofibromatosis. To diminish this effect of selection bias, we distinguished between the probands and their affected relatives. In a comparison with the general population, survival rates were significantly impaired in relatives with neurofibromatosis, worse in probands, and worst in female probands. Malignant neoplasms or benign central nervous system tumors occurred in 45 percent of the probands, giving a relative risk of 4.0 (95 percent confidence limits, 2.8 to 5.6) as compared with expected numbers. Multiple primary neoplasms were found in 15 probands, but only 1 relative. Compared with the general population, male relatives with neurofibromatosis had the same rate of neoplasms, whereas female relatives had a nearly twofold higher rate (relative risk, 1.9; 1.1 to 3.1). Nervous system tumors were disproportionately represented. We conclude that patients with severe neurofibromatosis requiring hospitalization often have a poor prognosis, but incidentally diagnosed relatives may have a considerably better outcome.
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“There are several reports of ACCs in patients with familial adenomatous polyposis (FAP), neurofibromatosis type 1, and Werner syndrome (63–72).”
From Adrenocortical carcinoma (2014) · cites this paper as [68]
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Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas
Koga, T., Iwasaki, H., Ishiguro, M., Matsuzaki, A., & Kikuchi, M. (2002) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(02)00527-7 · Cited by 35
Cell-type dependent enhancer binding of the EWS/ATF1 fusion gene in clear cell sarcomas
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Spurlock, G., Griffiths, S., Uff, J., & Upadhyaya, M. (2007) · Familial Cancer · doi:10.1007/s10689-007-9149-5 · Cited by 34
Neurogenic Tumors of Soft Tissue
Cates, J., & Coffin, C. M. (2012) · Pediatric and Developmental Pathology · doi:10.2350/11-03-1003-pb.1 · Cited by 33
Special issues in the management of gliomas in children with neurofibromatosis 1
Pollack, I. F., & Mulvihi, J. (1996) · Journal of Neuro-Oncology · doi:10.1007/bf00250204 · Cited by 33
Genetically engineered mouse models of astrocytoma: GEMs in the rough?
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Self-citation10 rare tumors that warrant a genetics referral
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Campos, B., Balmañà, J., Gardenyes, J., Valenzuela, I., Abad, O., Fàbregas, P., Volpini, V., & Dı́ez, O. (2013) · Breast Cancer Research and Treatment · doi:10.1007/s10549-013-2538-6 · Cited by 30
Metadata
- Authors
- Sørensen, S. A., Mulvihill, J. J., & Nielsen, A.
- ORCID
- Mulvihill, John J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1986-04-17
- Volume
- 314
- Issue
- 16
- Pages
- 1010-1015
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2330798445
- Cited by
- 617
- References
- 21
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 11 · 2023: 12 · 2022: 13 · 2021: 7 · 2020: 16 · 2019: 16 · 2018: 9 · 2017: 13 · 2016: 17 · 2015: 11 · 2014: 18 · 2013: 18 · 2012: 31
- FWCI
- 17.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
- Health Sciences › Medicine › Oncology › Neuroblastoma Research and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- von Recklinghausen neurofibromatosis, neurofibromatosis type 1, natural history (disease), survival, cancer, central nervous system tumors, multiple primary neoplasms, sex differences, familial neurofibromatosis, prognosis, long-term follow-up
- MeSH terms
- Brain Neoplasms, Denmark, Female, Follow-Up Studies, Glioma, Humans, Male, Neoplasms, Multiple Primary, Neurofibromatosis 1, Prognosis, Risk, Sex Factors, Skin Neoplasms
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