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Somatic Cancer Driver Mutation Analysis in Endometriosis with Tumor-like Presentations: A Case Series Study
Lucy Chen1, Elizabeth Severino1, Dao-Sian Wu2
1Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.
Biomedicines
|July 28, 2026
Summary
Tumor-like endometriosis lesions, often mistaken for cancer, were analyzed for genetic mutations. Researchers found cancer driver mutations, including KRAS and ARID1A, in some lesions, offering new insights into their development.
Area of Science:
- Oncology
- Genetics
- Gynecology
Background:
- Endometriosis involves endometrial tissue outside the uterus.
- Tumor-like endometriosis lesions can mimic cancer at unusual sites.
- These lesions are uncommon and biologically significant.
Purpose of the Study:
- To investigate cancer driver mutations in tumor-like endometriosis.
- To analyze the genetic landscape of these rare lesions.
- To compare genetic findings with conventional endometriosis.
Main Methods:
- Retrospective case series of 14 patients (2007-2023).
- Laser capture microdissection of endometriotic gland epithelium.
- Analysis of formalin-fixed, paraffin-embedded tissue for cancer driver mutations.
Main Results:
- Tumor-like lesions presented unusually (groin, aorta, omentum, bowel, lymph nodes), mimicking malignancy.
- Six of 14 patients had cancer driver mutations (11 total).
- Recurrent mutations included KRAS (4 cases) and ARID1A (2 cases); others involved PIK3CA, CTNNB1, CHD4, MYD88, STAG2.
Conclusions:
- Detected KRAS, ARID1A, PIK3CA, CTNNB1, MYD88 mutations in endometriotic lesions.
- Identified novel mutations in CHD4 and STAG2.
- Not all tumor-like endometriosis lesions contained cancer driver mutations.
