At-Risk Phenotype of Neurofibromatosis Type 1 Patients
Author Information
Author(s): Sbidian Emilie, Bastuji-Garin Sylvie, Valeyrie-Allanore Laurence, Ferkal Salah, Lefaucheur Jean P, Drouet Alain, Brugière Pierre, Vialette Cédric, Combemale Patrick, Barbarot Sébastien, Wolkenstein Pierre
Primary Institution: Université Paris Est (UPEC)
Hypothesis
The association between subcutaneous neurofibromas and internal neurofibromas in patients with neurofibromatosis type 1 is related to peripheral neuropathy.
Conclusion
Subcutaneous neurofibromas are significantly associated with internal neurofibromas and axonal neuropathies in neurofibromatosis type 1 patients.
Supporting Evidence
- Patients with at least ten subcutaneous neurofibromas had a significantly higher risk of internal neurofibromas.
- Axonal neuropathies with slowed conduction velocities were more common in patients with at least ten subcutaneous neurofibromas.
- Subcutaneous neurofibromas were associated with a higher risk of malignant transformation.
Takeaway
People with a certain type of skin tumor called subcutaneous neurofibromas are more likely to have other tumors inside their bodies and nerve problems.
Methodology
This was a prospective multicentre case-control study involving 110 NF-1 patients with subcutaneous neurofibromas and 110 matched controls.
Potential Biases
Potential assessment bias was minimized by having independent reviewers for MRI and electrophysiological data.
Limitations
Selection bias cannot be excluded, and the study was limited to patients from specific hospital centers.
Participant Demographics
Mean age of participants was 41 years, with 59% being female.
Statistical Information
P-Value
p<0.05
Confidence Interval
95% CI provided for various odds ratios.
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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