Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Sep 3:7:62.
doi: 10.1186/1750-1172-7-62.

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study

Emilie Sbidian  1 , Smaïl Hadj-Rabia, Vincent M Riccardi, Laurence L Valeyrie-Allanore, Sébastien Barbarot, Olivier Chosidow, Salah Ferkal, Diana Rodriguez, Pierre Wolkenstein, Sylvie Bastuji-Garin
Affiliations

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study

Emilie Sbidian et al. Orphanet J Rare Dis. .

Abstract

Objective: To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral nerve-sheath tumors developed from preexisting internal neurofibromas.

Patients and methods: We used data from two NF1 populations, in France and North America, respectively. The French database comprised 1083 patients meeting NIH diagnostic criteria for NF1 and the Neurofibromatosis Institute Database of North America comprised 703 patients. Patients younger than 17 years of age were eligible for our study if they had been evaluated for internal neurofibromas using computed tomography and/or magnetic resonance imaging. Clinical characteristics associated with internal neurofibromas by univariate analysis (P ≤ 0.15) were entered into a multiple logistic regression model after checking for potential interactions and confounding. Multiple imputation was used for missing values.

Results: Among the 746 children in the two databases, 357 (48%) met our inclusion criteria. Their mean age was 7.7 ± 5.0 years and there were 192 (53.8%) males. Internal neurofibromas were present in 35 (9.8%) patients. Internal neurofibromas developed earlier in females than in males and their prevalence increased during adolescence. Factors independently associated with internal neurofibromas were age (OR = 1.16 [1.07-1.27]), xanthogranulomas (OR = 5.85 [2.18-15.89]) and presence of both subcutaneous and plexiform neurofibromas (OR = 6.80 [1.52-30.44]).

Conclusions: Several easily recognizable clinical characteristics indicate a high risk of internal neurofibromas in children with NF1 and, therefore, a need for very close monitoring.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Flow chart.
Figure 2
Figure 2
Probability of having internal neurofibromas with the 95% Confidence Interval.
Figure 3
Figure 3
Probability of having internal neurofibromas stratified by sex (females black line and males grey line).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26(11):704–711. doi: 10.1136/jmg.26.11.704. - DOI - PMC - PubMed
    1. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110–1118. doi: 10.1086/320121. - DOI - PMC - PubMed
    1. Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S. et al.Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980–2006 in France. Orphanet J Rare Dis. 2011;6:18. doi: 10.1186/1750-1172-6-18. - DOI - PMC - PubMed
    1. Riccardi VM. Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press; 1992.
    1. Tucker T, Riccardi VM, Brown C, Fee J, Sutcliffe M, Vielkind J. et al.S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas. J Neurosci Res. 2011;89(9):1451–1460. doi: 10.1002/jnr.22654. - DOI - PubMed

Publication types