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Review
. 2025;3(1):8.
doi: 10.1038/s44294-024-00052-w. Epub 2025 Feb 6.

Real world perspectives on endometriosis disease phenotyping through surgery, omics, health data, and artificial intelligence

Camran R Nezhat  1 , Tomiko T Oskotsky  2 , Joshua F Robinson  3 , Susan J Fisher  4 , Angie Tsuei  5 , Binya Liu  6 , Juan C Irwin  6 , Brice Gaudilliere  7 , Marina Sirota  2 , David K Stevenson  8 , Linda C Giudice  6
Affiliations
Review

Real world perspectives on endometriosis disease phenotyping through surgery, omics, health data, and artificial intelligence

Camran R Nezhat et al. NPJ Womens Health. 2025.

Abstract

Endometriosis is an enigmatic disease whose diagnosis and management are being transformed through innovative surgical, molecular, and computational technologies. Integrating single-cell and other omic disease data with clinical and surgical metadata can identify multiple disease subtypes with translation to novel diagnostics and therapeutics. Herein, we present real-world perspectives on endometriosis and the importance of multidisciplinary collaboration in informing molecular, epidemiologic, and cell-specific data in the clinical and surgical contexts.

Keywords: Diseases; Physiology; Reproductive disorders.

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Conflict of interest statement

Competing interestsAll authors declare no financial competing interests. Other competing interests: L.C.G. is on the Editorial Board of npj Women’s Health, and L.C.G. and M.S. are Guest Editors of the npj Women’s Health Collection, “Inflammatory Disorders and Women’s Reproductive Health”.

Figures

Fig. 1
Fig. 1. Graphic representation of “genital” and “extragenital” endometriosis.
a Genital endometriosis and its subtypes (minimum, mild, moderate, and severe). Depiction of genital endometriosis and its stages used the image of the female reproductive tract from: Cream Cake Diva/getdrawings.com (https://getdrawings.com/get-drawing#external-drawing-21.jpg), adapted and used under the Creative Commons License CC BY-NC 4.0. b Extra genital endometriosis (pelvic and extrapelvic) and subtypes (minimum, mild, moderate, severe). Depiction of extragenital endometriosis adapted the image used under the Shutterstock Standard License [Andrii Bezvershenko/Shutterstock.com (Stock Vector ID: 109207899).
Fig. 2
Fig. 2. Examples of superficial endometriosis and deep infiltrating endometriosis identified intraoperatively.
a Superficial endometriosis on fallopian tube serosa. b Superficial endometriosis of small bowel serosa. c Superficial endometriosis of the serosa of the bladder. d Deep fibrotic endometriosis encroaching the left utero-vesical junction. Arrows point to the lesions.
Fig. 3
Fig. 3. Photographs of ovarian endometriomas identified intraoperatively.
a Type I endometrioma. b Type IIA endometrioma. c Type IIB endometrioma. d Type IIC endometrioma. Black circles around the endometriomas have been drawn on the photographs to highlight the extent of the endometriomas.
Fig. 4
Fig. 4. Examples of histologic and architectural heterogeneity of endometriosis lesions.
The broad array of endometriosis lesions resected for research are shown here diagrammatically and histologically (hematoxylin & eosin (H&E) staining. From Fonseca et al., with permission.
Fig. 5
Fig. 5. Key features of endometriosis lesion types revealed by single-cell RNA sequencing.
The image on the left illustrates the three major lesion types and subtypes (e.g., red lesions, black lesions) revealing their heterogeneity and anatomic locations. Image is from Zondervan et al. with permission. On the right are listed key features of endometriosis types (superficial peritoneal endometriosis (SPE), deep infiltrating endometriosis (DIE), and endometriomas) and how they differ or share features with each other, based on studies on single-cell RNA-seq of lesions and endometrium described in the text.
See this image and copyright information in PMC

References

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