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Table. 3.

Table. 3.

Comparison of clinical characteristics of neurofibromatosis 1 patients with detected NF1 variants and those devoid of NF1 variants

Mutation Detected Not detected P OR (95% CI)
Number of patients 43 18
Age, yr* 13 (1-60) 22 (4-74) 0.014
Sex (N, %) 0.678 0.792 (0.263-2.385)
Male 24 (55.8%) 9 (50%)
Female 19 (44.2%) 9 (50%)
Number of satisfying NIH criteria (1988)
2 or more 23 (92.0%) 2 (8%) 0.002 9.200 (1.881-44.998)
One 20 (66.7%) 10 (33.3%) < 0.001 4.583 (2.779-7.559)
None 0 (0.0%) 6 (100%)
Clinical presentation (N, %)
1st degree family history 7 (16.3%) 1 (5.6%) 0.258 3.306 (0.376-29.045)
Café-au-lait spots 39 (90.7%) 9 (50.0%) < 0.001 9.750 (2.446-38.869)
Neurofibroma 18 (41.9%) 1 (5.6%) 0.005 12.240 (1.490-100.538)
Axillary/groin freckling 4 (9.3%) 1 (5.6%) 0.627 1.744 (0.181-16.778)
Lisch nodule 8 (18.6%) 2 (11.1%) 0.471 1.829 (0.348-9.603)
Optic glioma 2 (4.7%) 0 (0%) 0.352 1.049 (0.982-1.120)
Skeletal dysplasia 1 (2.3%) 0 (0%) 0.514 1.024 (0.978-1.072)
Brain hamartoma 14 (32.6%) 0 (0%) 0.006 1.483 (1.205-1.825)
Seizure, mental retardation 1 (2.3%) 0 (0%) 0.514 1.024 (0.978-1.072)
MPNST 1 (2.3%) 0 (0%) 0.514 1.024 (0.978-1.072)
Other mass lesion 0 (0%) 6 (33.3%) < 0.001 0.667 (0.481-0.924)

*Median (range).

Abbreviations: OR, odds ratio; CI, confidence interval; NIH, National Institutes of Health; MPNST, malignant peripheral nerve sheath tumors.

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