Endometriosis and Cancer Genes

iStock-624748148Endometriosis is generally considered to be a benign condition, even though it is associated with pelvic pain and sometimes infertility. Now comes a study Rick and I discuss on PodMed this week, as published in NEJM, that seems to suggest that some of these lesions may not be so benign after all, at least as judged by the presence of mutations in DNA taken from them that are associated with cancer. What did they do?

Researchers obtained tissue from 27 patients with what they characterized as 'deeply infiltrative endometriotic lesions.' Lesions from 24 of the patients were analyzed by means of whole exome  sequencing, while 4 were analyzed using cancer-driver targeted sequencing. Results indicated that more than a quarter (26%) carried cancer-driver mutations, and all of these were confined to the epithelial compartment of the lesion.

Well. What is the significance of these mutations given that for most, transformation into frank cancer is unlikely? As Rick and I speculate in the podcast, seems like there's a lot we don't know about so-called cancer mutations and the likelihood that they will actually produce cancer. Clearly simply the presence of the mutation alone is insufficient. Does transformation also require environmental factors or additional mutations? And how will these findings affect efforts to develop early screening tools for cancer? If 26% of people with so-called benign conditions carry these mutations they clearly aren't useful for predicting malignancy. Back to the drawing board, it may be. And as for the 10% of young women who have endometriosis, maybe NOT testing them is prudent since who knows how such information may be used by insurance companies to deny coverage for pre-existing conditions?

Other topics this week include Use of the NHLBI Data Repository, also in NEJM, one from JAMA: Postmarket Safety Events Among Novel Therapeutics Approved by the US Food and Drug Administration Between 2001 and 2010, and in the BMJ: Diet high in vegetables, fruit, and whole grains may reduce risk of gout. Until next week, y'll live well.

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