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. Author manuscript; available in PMC: 2017 Nov 11.
Published in final edited form as: N Engl J Med. 2017 May 11;376(19):1835–1848. doi: 10.1056/NEJMoa1614814

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.