Table 1.
Cohort Description, Assay Pipeline, and Driver Gene Mutations in All Patients.*
Patient | Age | Location Sampled |
Clinical Stage |
Whole-Exome Sequencing |
Safe-Sequencing System |
Targeted Amplicon Sequencing |
Droplet Digital PCR Assay |
Somatic Mutations Detected |
Driver Gene Mutations |
---|---|---|---|---|---|---|---|---|---|
Yr | no. | ||||||||
1 | 41 | Paraovarian tissue | III | Yes | No | No | No | 11 | None |
| |||||||||
2 | 36 | Sigmoid colon | III | Yes | No | No | No | 0 | None |
| |||||||||
3 | 25 | Appendix | IV | Yes | Yes | No | No | 5 | PIK3CA |
| |||||||||
4 | 26 | Right paraureteral serosa | III | Yes | No | No | No | 0 | None |
| |||||||||
5 | 29 | Right bladder peritoneum | IV | Yes | No | No | No | 0 | None |
| |||||||||
6 | 34 | Uterosacral peritoneum | IV | Yes | No | No | No | 17 | PPP2R1A |
| |||||||||
7 | 38 | Bladder peritoneum | III | Yes | No | No | No | 1 | None |
| |||||||||
8 | 33 | Appendix | IV | Yes | No | No | No | 2 | None |
| |||||||||
9 | 40 | Colonic wall | IV | Yes | No | No | No | 6 | ARID1A |
| |||||||||
10 | 23 | Sigmoid colon | IV | Yes | No | No | No | 1 | None |
| |||||||||
11 | 41 | Rectum | IV | Yes | No | No | No | 10 | None |
| |||||||||
12 | 39 | Appendix | IV | Yes | No | No | No | 4 | None |
| |||||||||
13 | 37 | Ileum | IV | Yes | No | No | No | 7 | None |
| |||||||||
14 | 38 | Paratubal soft tissue | III | Yes | No | No | No | 1 | None |
| |||||||||
15 | 42 | Hypogastric peritoneum | IV | Yes | Yes | No | No | 2 | KRAS |
| |||||||||
16 | 39 | Uterosacral ligament | III | Yes | No | No | No | 0 | None |
| |||||||||
17 | 49 | Paraovarian tissue | III | Yes | No | No | No | 1 | None |
| |||||||||
18 | 47 | Paratubal soft tissue | III | Yes | No | No | No | 4 | None |
| |||||||||
19 | 46 | Paratubal soft tissue | III | Yes | No | No | No | 2 | None |
| |||||||||
20 | 44 | Paratubal soft tissue | III | Yes | No | No | No | 2 | ARID1A |
| |||||||||
21 | 35 | Abdominal wall | IV | Yes | No | No | No | 1 | None |
| |||||||||
22 | 51 | Paratubal soft tissue | I | Yes | No | No | No | 2 | None |
| |||||||||
23 | 30 | Paratubal soft tissue | II | Yes | No | No | No | 1 | None |
| |||||||||
24 | 48 | Paratubal soft tissue | III | Yes | No | No | No | 0 | None |
| |||||||||
25 | 40 | Rectovaginal tissue | II | No | No | Yes | Yes | 1 | KRAS |
| |||||||||
26 | 36 | Rectovaginal tissue | III | No | No | Yes | Yes | 1 | KRAS |
| |||||||||
27 | 36 | Ureter | II | No | No | Yes | No | 0 | None |
| |||||||||
28 | 50 | Rectouterine pouch | IV | No | No | No | Yes | 1 | KRAS |
| |||||||||
29 | 27 | Posterior cul-de-sac | III | No | No | No | Yes | 1 | KRAS |
| |||||||||
30 | 25 | Uterosacral ligament | III | No | No | No | Yes | 1 | KRAS |
| |||||||||
31 | 33 | Sigmoid colon | III | No | No | No | Yes | 0 | None |
| |||||||||
32 | 40 | Uterosacral ligament | II | No | No | No | Yes | 0 | None |
| |||||||||
33 | 29 | Uterosacral ligament | II | No | No | No | Yes | 0 | None |
| |||||||||
34 | 41 | Rectovaginal tissue | IV | No | No | No | Yes | 0 | None |
| |||||||||
35 | 28 | Sigmoid colon | IV | No | No | No | Yes | 0 | None |
| |||||||||
36 | 41 | Peri ureter | IV | No | No | No | Yes | 0 | None |
| |||||||||
37 | 31 | Uterosacral ligament | IV | No | No | No | Yes | 0 | None |
| |||||||||
38 | 34 | Rectovaginal tissue | IV | No | No | No | Yes | 0 | None |
| |||||||||
39 | 29 | Rectovaginal tissue | III | No | No | No | Yes | 0 | None |
Tissue samples from Patients 1 through 17 were obtained from the Departments of Obstetrics and Gynecology and Pathology at Lenox Hill Hospital-Northwell Health (Hofstra University) in New York. Tissue samples from Patients 18 through 24 were obtained from the Department of Pathology at Seirei Mikatahara Hospital in Hamamatsu, Japan. Tissue samples from Patients 25 through 39 were obtained from the BC Women’s Centre for Pelvic Pain and Endometriosis in Vancouver, BC, Canada. PCR denotes polymerase chain reaction.