Mutations Associated with Cancer Were Identified in "Endometriosis without Cancer"

Mutations Associated with Cancer Were Identified in

This discovery can help scientists better understand how endometriosis develops, clarify the differences between different subtypes, and may lead to better treatments in the future.

Lesions in deep infiltrating endometriosis harbor genetic mutations that are associated with cancer, found a study published in the New England Journal of Medicine

The authors believe that this new discovery may help to distinguish between aggressive and non-aggressive forms of endometriosis and could lead to the development of new and personalized treatments for women with the condition.

Researchers at Johns Hopkins University, Maryland, and the University of British Columbia, Canada, genetically analyzed the deep infiltrating endometriosis tissues from 27 patients. They analyzed the DNA sequence of the genes of endometriosis samples and found that 19 patients had genetic mutations. The mutations in five of the patients were in genes that are known to drive the development of cancers (namely, ARID1A, PIK3CA, KRAS, and PPP2R1A gene). 

The results do not mean that these mutations can cause cancer in women with endometriosis. Instead, the researchers believe that these results will help them better understand how endometriosis develops, clarify the differences between different subtypes, and may lead to the development of better therapies in the future.

“The study proved what I have long suspected,” said Dr. Tamer Seckin, a surgeon at Lenox Hill Hospital in New York City and a co-author of the study. “This is the first time that it has been demonstrated in a benign tissue that these genes co-exist. In the past, we did not know the gene’s mutation sites. We only identified mutation sites in cancer tissue. This study is the first time we see mutation sites in non-cancerous tissue.”  

Endometriosis has been described as a hormonal and inflammatory disease. However, this new research shows that genetic mutations impacting cell growth may also be involved in the development of the condition.

"We found that these gene changes occurred only in the endometriosis cells themselves," Seckin added. "They are not present in cells other than endometriosis, and therefore there is no risk of passing them onto children."

According to the researchers, future work is necessary to determine the situation in potentially different types of endometriosis. Classifying endometriosis based on genetic information could ultimately lead to better, patient-specific treatments.  

The findings were presented at the 13th World Congress of Endometriosis on May 18 and 19, 2017 in Vancouver, Canada by Dr. Seckin and on March 7, 2017, at the U.S. and Canadian Academy of Pathology (UCAP) annual meeting in San Antonio, Texas by Professor Ayse Ayhan.  

The study was funded by Endometriosis Foundation of America and the key points and the summary of the study for the details can be read today at

Research Source:

genetic mutation DNA analysis cancer KRAS ARID1A driver


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