Novel Diagnostic Strategies for the Detection of Malignant Transformation of Endometriosis

Shared roots of endometriosis and endometrial cancer.

Key Points

Highlights:

• There is a small risk of malignant transformation, with clear cell carcinoma and endometrioid adenocarcinoma being the most common types of malignancies arising from endometriosis.
• Some of the genetic pathways for endometriosis are similar to the ones in endometrial cancer.

Importance:

• Malignant transformation of endometriosis is a rare event, occurring in less than 1% of cases. Still, improved diagnostic strategies are needed for the earlier detection of endometriosis-associated malignancies.

What's done here:                                  

• This is a comprehensive review of the malignant transformation of endometriosis, clinicopathological characteristics, and molecular features.
• Studies conducted between 2000-2022 and published in the PubMed and Google Scholar databases were analyzed.
• The article discusses the current diagnostic strategies and the potential for novel diagnostic approaches.

Key Results:

• The most common type of malignancy that arises from endometriosis is clear cell carcinoma, followed by endometrioid adenocarcinoma.
• Mutations in genes such as ARID1A, PIK3CA, PTEN, and TP53 have been found in endometriosis-associated malignancies, and these mutations are also commonly altered in endometrial cancer.
• Iron metabolism, redox reactions, oxidative stress, and immune microenvironment all contribute to the development and progression of both endometriosis and endometriosis-associated malignancies: understanding these factors may provide insights into the pathogenesis for the development of novel strategies.
• The changes in the iron levels of endometriotic lesions might be monitored by MR transverse relaxometry for an insight into malignant transformation.
• Studies show that tissue factor pathway inhibitor 2 (TFPI2) is superior to CA125 in terms of detecting clear cell carcinoma in endometriosis patients.

Limitations:

• The current diagnostic strategies for endometriosis-associated malignancies have limitations in terms of sensitivity and specificity.

Lay Summary

Endometriotic implants can grow on various organs and tissues in the pelvis, leading to pain, infertility, and other symptoms. Most cases of endometriosis are benign and there is a small risk of malignant transformation.

The review conducted by Dr. Hiroshi Kobayashi from Nara Medical University, Japan, provides an overview of the current understanding of the malignant transformation of endometriosis, its clinicopathological characteristics, and molecular features.

The most common type of malignancy that arises from endometriosis is clear cell carcinoma, followed by endometrioid adenocarcinoma. These malignancies are typically found in the ovaries but can also occur in other pelvic locations where endometriosis is present. Malignant transformation of endometriosis is a rare event, occurring in less than 1% of cases.

The article highlights the molecular features of endometriosis-associated malignancies, which can help diagnose and treat them. Mutations in genes such as ARID1A, PIK3CA, PTEN, and TP53 have been found in endometriosis-associated malignancies, and these mutations are also commonly altered in endometrial cancer. This suggests that there may be some shared molecular pathways between endometrial cancer and endometriosis-associated malignancies.

The current diagnostic strategies for endometriosis-associated malignancies include imaging studies, such as ultrasound and MRI, and histopathological analysis of tissue samples obtained through surgery. However, these methods have limitations in terms of sensitivity and specificity, and there is a need for improved diagnostic strategies. One potential approach is using liquid biopsies that have shown promise in diagnosing and monitoring various types of cancers and may have the potential for detecting endometriosis-associated malignancies as well.

All in all, this review article provides a comprehensive overview of the clinicopathological characteristics and molecular features of endometriosis-associated malignancies and highlights the need for improved diagnostic strategies to enable earlier detection and better outcomes for affected patients. The details can be found in June 2023 issue of the scientific journal named Experimental and Therapeutic Medicine.

Research Source: https://pubmed.ncbi.nlm.nih.gov/37206546/