Table 2 The phenotypic manifestations of JPS in NRFSU families compared to Non- NRFSU families
From: Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
Non NRFSU families (%) (N = 23) | NRFSU families (%) (N = 11) | p-value | ||
|---|---|---|---|---|
Genetic test performance | no | 6 (26.1) | 1 (9.1) | p = NS |
yes | 17 (73.9) | 10 (90.9) | ||
Positive genetic test | no | 3 (17.6) | 3 (30.0) | p = NS |
yes | 14 (82.4) | 7 (70.0) | ||
Affected gene | SMAD4 | 6 (42.9) | 0 (.0) | p = NS* |
BMPR1A | 8 (57.1) | 7 (100.0) | ||
Colonic involvement | no | 1 (4.3) | 1 (9.1) | p = NS |
yes | 22 (95.7) | 10 (90.9) | ||
Colonic polyps | 0 | 1 (4.3) | 1 (9.1) | p = NS |
1–10 | 5 (21.7) | 4 (36.4) | ||
11–50 | 8 (34.8) | 3 (27.3) | ||
50–100 | 9 (39.1) | 2 (18.2) | ||
> 100 | 0 (.0) | 1 (9.1) | ||
Colonic surgery | no | 18 (78.3) | 7 (63.6) | p = NS |
yes | 5 (21.7) | 4 (36.4) | ||
CRC | no | 23 (100.0) | 10 (90.9) | Not done |
yes | 0 (.0) | 1 (9.1) | ||
Gastric involvement | no | 17 (77.3) | 3 (33.3) | p = 0.038 |
yes | 5 (22.7) | 6 (66.7) | ||
Gastric polyps | 0 | 13 (76.5) | 3 (33.3) | p = 0.017 |
1–10 | 2 (11.8) | 2 (22.2) | ||
11–50 | 0 (.0) | 2 (22.2) | ||
50–100 | 2 (11.8) | 1 (11.1) | ||
> 100 | 0 (.0) | 1 (11.1) | ||
Gastric cancer | no | 22 (95.7) | 11 (100.0) | Not done |
yes | 1 (4.3) | 0 (.0) | ||
Gastric surgery | no | 20 (87.0) | 10 (90.9) | p = NS |
yes | 3 (13.0) | 1 (9.1) | ||
Small bowel involvement | no | 8 (80.0) | 2 (40.0) | p = NS |
yes | 2 (20.0) | 3 (60.0) | ||
Surgery/DBE/SBE | no | 14 (87.5) | 6 (100.0) | p = NS |
yes | 2 (12.5) | 0 (.0) | ||
Family history of cancer | no | 10 (83.3) | 3 (42.9) | p = NS |
yes | 2 (16.7) | 4 (57.1) | ||