Table 3.
Demographic and clinical characteristics of Cowden syndrome and Cowden syndrome-like patients with endometrial cancer stratified by germline PTEN mutation status (n=371).
| Variable |
PTEN mut+ EC n=26 |
PTEN mut− EC n=326 |
PTEN_VUS EC# n=19 |
Global p-value | Pairwise p-value* | |
|---|---|---|---|---|---|---|
| Age | Mean <30 year old 30–50 years > 50 years |
44.2 (21–69) 3 (12%) 15 (60%) 7 (28%) |
53.9 (15.6–88) 13 (5%) 89 (31%) 184 (64%) |
52 (30.5–68.7) 0 6 (32%) 13 (68%) |
<0.001 0.006 |
<0.001 0.001 |
| Histology | Endometrioid Serous/clear cell Mucinous Sarcoma NOS**/Unknown |
17 (65%) 0 (0%) 1 (4%) 0 (0%) 8 (31%) |
130 (40%) 18 (6%) 0 (0%) 10 (3%) 168 (51%) |
44 (47%) 1 (5%) 0 0 35 (47%) |
<0.001 | <0.001 |
| Race | White African American Asian Others Unknown |
19 (73%) 0 1 (4%) 2 (8%) 4 (15%) |
191 (59%) 8 (3%) 7 (2%) 18 (6%) 102 (31%) |
8 (90%) 1 (5%) 0 1 (5%) 9 (47%) |
0.35 | |
| Uterine Fibroid |
Yes No/ unknown |
12 (46%) 14 (54%) |
118 (36%) 208 (64%) |
9 (47%) 10 (53%) |
0.39 | |
| Breast Cancer | Yes No/ unknown |
14 (54%) 12 (46%) |
201 (62%) 125 (38%) |
11 (58%) 32 (42%) |
0.70 | |
| Renal cancer | Yes No/ unknown |
5 (19%) 21 (81%) |
13 (4%) 312 (96%) |
0 19 (100%) |
0.001 | 0.006 |
| Thyroid cancer | Yes No/ unknown |
4 (15%) 22 (85%) |
44 (14%) 282 (86%) |
3 (16%) 16 (84%) |
0.93 | |
| Macrocephaly | YES No/Unknown |
20 (77%) 6 (23%) |
61 (19%) 265 (81%) |
3 (16%) 16 (84%) |
<0.001 | <0.001 |
| Cleveland Clinic Score |
Mean Median |
30 29 |
7.7 7 |
6.7 7 |
<0.001 | <0.001 |
| PTEN protein level | PTEN Q1 PTEN Q2 PTEN Q3 PTEN Q4 |
10 (62.5%) 4 (25%) 0 (0%) 2 (12.5%) |
57 (25%) 53 (24%) 56 (25%) 59 (26%) |
2 (25%) 2 (25%) 4 (50%) 0 (0%) |
0.01 | 0.005 |
*
Pairwise p-value comparing only those with germline PTEN mutation and those with no mutations or VUS. This test was done only in situations when global p-value was significant (<0.05).
#
VUS: variants of unknown significance
**
Not otherwise specified