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Vancouver Scientists Find Cancer-Causing Mutations in Common Non-Cancerous Gynecological Disorder

By May 19, 2017No Comments

Cancer-causing gene mutations were found in the pelvic lesions of women with a typically non-cancerous gynecological disorder called endometriosis, a study by Vancouver scientists published Wednesday by the New England Journal of Medicine shows.

Endometriosis causes intense pelvic pain, menstrual abnormalities and even infertility. It is characterized by tissue that normally lines the uterus migrating outside the organ, causing lesions throughout the pelvic cavity. The bumpy growths can migrate to areas like the ovaries, colon, bladder, rectum, ureter and appendix. The condition regresses after menopause.

The research by scientists from the B.C. Cancer Agency, the B.C. Women’s Hospital, Vancouver Coastal Health, the University of B.C. and Johns Hopkins in Baltimore should change the way doctors and researchers approach the complex disorder affecting 10 per cent of females during their reproductive years, said co-author Michael Anglesio.

“Finding these mutations in non-cancer conditions is largely uncharted territory,” he said. “It’s not just inflammation around endometrial tissue in the wrong place, it’s that there are genetic changes hardwired into the biology of the disorder.”

That finding raises the possibility of using some experimental cancer drugs for the chronic, non-cancer disease, said Anglesio, a scientist at the B.C. Cancer Research Centre.

A low percentage of cases of endometriosis are linked to a type of ovarian cancer, but the study showed that most of the tissue samples had mutations linked to cancer. Thus the study adds to the intrigue about a benign, or non-cancerous, condition that shares the same features and molecular makeup as cancerous growths that lead to tumours in other areas of the body. An editorial in the same issue of the medical journal says it may be that although there are DNA errors in endometriosis, they may not be numerous enough to cause cancer.

“This study does have wide implications beyond gynecologic oncology,” said co-author Dr. Paul Yang, referring to the possibility that mutations usually associated with cancer may not always be so menacing as to cause cancer. But scientists needs to learn more, through a bigger, longer study, about what puts the brakes on the mutations, especially if there are certain “micro-environments” that hinder the transformation of growths from being merely abnormal to becoming malignant.

Yong, a gynecologist at the B.C. Women’s Centre for Pelvic Pain and Endometriosis, said endometriosis lesions feed on estrogen, which is why progestin-only hormone pills are often recommended as treatment. Or, in the case of women seeking to become pregnant, minimally invasive surgery by specialists can be done to remove lesions.

For the study, researchers used gene-sequencing technology to analyze endometrial tissue collected during surgery from 39 women in Vancouver, New York and Japan. While there are three known types of endometriosis, researchers confined their analysis to a nasty subtype called deep-infiltrating endometriosis that causes pain during periods, intercourse and bowel movements. Most of the tested samples harboured single or multiple gene mutations.

Anglesio, an assistant professor of obstetrics and gynecology at the University of B.C., said the study marks the first time such advanced technology has been used in endometriosis research. “These mutations are a first step in understanding the breadth of symptoms and outcomes that affect every patient differently. Finally, we have a roadmap to find the right treatments.”

Yong will present the findings at the 13th World Congress on Endometriosis which is being held in Vancouver May 17 to 20.