Page 98 - ESHRE2019

Exome + targeted sequencing of deep infiltrating endometriosis lesions
(Anglesio et al, NEJM 2017)
• Exome sequencing of 24 deep lesions (nodules) vs adjacent ‘normal’
• Additional targeted (cancer-driver mutations) sequencing of 3 lesions
• Additional KRAS mutation sequencing of 12 lesions, epithelial vs. stromal cell components
Results:
5/24 patients: cancer driver mutations in
ARID1A, PIK3CA, KRAS, PPP2R1A (21%) 6/39: KRAS mutations detected (15%)
Remaining questions:
• No endometrium sampled (origin of mutation?)
• Do these mutations have a role in disease origin/maintenance or are they ‘by‐products’?
• Deep endometriosis is NOT associated with increased cancer risk
• Multiple other studies have shown presence of driver mutations in human tissues, not resulting in cancer .... (Kato et al., 2016)
Exome + targeted sequencing of ovarian endometriosis
(Suda et al, Cell Reports 2018)
• ‘Discovery’ whole exome sequencing of epithelium dissected through laser capture, from: – 13 ovarian endometriosis vs. 11 histologically normal eutopic endometrium samples
• Additional targeted (84 genes) sequencing of epithelium from:
– 94 ovarian endometriosis from 45 women, vs.
– 71 eutopic endometrium from 29 women with ‘benign gynaecological disease’ (endometriosis, uterine fibroids, CIN)
96
93