Table 3 Median age at diagnosis and interquartile range (IQR) in de novo patients in each diagnostic category by constitutional, mosaic/presumed mosaic and no pathogenic variant found
Full constitutional path_variant | Mosaic/presumed mosaic | Pathogenic variant not found | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
De novo category | n | Median age at diagnosis | IQR | n | Median age at diagnosis | IQR | n | Median age at diagnosis | IQR | p value |
Bilateral VS no FH | 303 | 21 | 15.0–34.0 | 122 | 31 | 22.0–42.25 | 255 | 48 | 30–62 | <0.001 |
BVS UVS first | 18 | 29.5 | 18.5–38.5 | 12 | 32 | 19.25–55.25 | 39 | 48 | 30–61 | 0.003 |
UVS + 2 schwannomas | 5 | 13 | 8.0–34.0 | 18 | 36 | 20.75–47.0 | 29 | 41 | 33.5–52.0 | 0.016 |
UVS + 2 other | 18 | 37 | 23.75–60.25 | 39 | 42 | 32.0–49.0 | 91 | 47 | 36.0–58.0 | 0.044 |
≥2 meningioma + 2 other | 13 | 16 | 8.5–20.75 | 4 | 49.5 | 47.25–57.75 | 15 | 35 | 26.0–48.0 | <0.001 |
Pathogenic variant + 1 tumor | 11 | 8 | 4.0–15.0 | 2 | 2.5 | 2.0–2.5 | 0 | 0.231 | ||
Pathogenic variant + 2 tumors | 3 | 9 | 2.0–9.0 | 5 | 32 | 11.0–40.5 | 0 | 0.143 | ||
Schwannomatosis NF2 mosaic | 0 | 9 | 44 | 25.0–51.5 | 0 | n/a | ||||
UVS + sibling NF2 | 0 | 0 | ||||||||
UVS + child NF2 | 0 | 1 | 50 | n/a | 1 | 44 | n/a | |||
≥2 Meningioma child NF2 | 0 | 0 | 6 | 35.5 | 25.75–44.5 | n/a | ||||
Ocular + pathogenic variant | 0 | 1 | 1 | n/a | 0 | n/a | ||||
Total | 371 | 21 | 15.0–34.0 | 213 | 35 | 23.0–47.0 | 435 | 32 | 32.0–60.0 | <0.001 |
