Table 2:
Disease-causing Variant Negative JPS (n=64) | Disease-causing Variant Positive JPS (n=54) | p-value | ||
---|---|---|---|---|
SMAD4 (n=27) | BMPR1A (n=27) | |||
Female (%) | 42 | 56 | 0.123 | |
61 | 52 | 0.511 | ||
Age at Diagnosis: Median (range) (years) | 5 (2 – 55) | 18 (1 – 72) | <0.001 | |
19 (2 – 54) | 18 (1 – 72) | 0.996 | ||
Age at Last Follow Up: Median (range) (years) | 11 (3 – 57) | 33.5 (2 – 73) | <0.001 | |
37 (13 – 65) | 27 (2 – 73) | 0.394 | ||
Years of Follow Up: Median (range) (years) | 4.5 (0–30) | 5 (0 – 48) | 0.350 | |
8 (0 – 48) | 2 (0 – 44) | <0.001 | ||
Positive Family History for JPS (%) | 6 | 52 | <0.001 | |
56 | 48 | 0.016 | ||
Presence of Adenomas (%) * | 0 | 45 | <0.001 | |
52 | 38 | 0.635 | ||
Upper GI Polyps (%) * | 0 | 57 | <0.001 | |
60 | 55 | 0.839 | ||
Lower GI Polyps (%) * | 100 | 87 | 0.003 | |
88 | 86 | 0.548 |
Demographic data, clinical history, polyp location, and adenoma frequency in individuals with JPS, subdivided by no DCV and SMAD4/BMPR1A DCV
Polyp and adenoma burden as measured by lifetime presence of upper (gastric/duodenal) polyps, lower (colonic/rectal) polyps, and adenomas (upper or lower)