The condition, called Cowden's syndrome, makes a woman's chances of having breast cancer shoot up to 85 percent.

By Maggie O'Neill
April 08, 2020
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When a 32-year-old woman sought medical advice at an outpatient breast clinic after several months of experiencing multiple, tender breast lumps, her doctors also noticed something else concerning: clustered papular growths, or benign bumps, on her lips. Those growths ended up being a key symptom of a condition that actually increased her chance of developing breast cancer.

The case study, published Wednesday in the New England Journal of Medicine (NEJM), shared the story of the woman who, despite not having a notable personal or family history, was diagnosed with estrogen receptor-positive invasive ductal carcinoma, a type of breast cancer that forms in the milk ducts of the breast. The woman was also found to have multiple intraductal papillomas or benign growths in her breasts.

The other growths on the woman's lips, however, also held a key to her diagnosis: Further genetic testing showed that the woman also had Cowden syndrome—a genetic condition associated with an increased risk of breast cancer, and for which oral mucosal papillomas are common.

What is Cowden syndrome?

Cowden syndrome is a genetic condition that is known to affect one in every 200,000 live births, according to Charis Eng, MD, PhD, FACP, the chair of Cleveland Clinic’s Genomic Medicine Institute. Though, Dr. Eng warns, this reported estimate is likely low, because the condition can go undetected. The condition is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene, which is responsible for making a substance that suppresses tumors.

Those with Cowden syndrome often present with multiple non-cancerous growths that can occur anywhere in the body, but the condition also causes increases one's risk of certain cancers. According to the NEJM case report, Cowden syndrome has been linked to a higher chance of having thyroid, endometrial, and breast cancers. (According to Dr. Eng, a woman's risk of breast cancer rises from 15% to 85% with the presence of Cowden syndrome.) Dr. Eng adds that patients also have a higher risk of suffering from kidney and colon cancers, as well as melanoma.

Additionally, Cowden syndrome has been associated with autism, Dr. Eng says, explaining that autism spectrum disorder is detected in as much as 23 percent of people with PTEN mutations. “Kids with autism have a 2% prevalence of finding a PTEN mutation with implications of cancer later in life,” says Dr. Eng.

Since Cowden’s syndrome can cause macrocephaly (the technical term for a large head size), infants or children with larger heads need to be tested for a PTEN mutation, says Dr. Eng. In addition, all autistic children should be tested. “This is so the diagnosis can be pinned down early,” Dr. Eng says.

Timing is everything in the diagnosis of Cowden syndrome. People with the condition should receive enhanced clinical cancer screenings, since they are so much more likely to develop certain cancers. “This catches the cancers early at a curable stage,” says Dr. Eng. She adds that some people choose to undergo preventative mastectomies given their high risk of developing breast cancer.

People with Cowden syndrome are likely to develop the cancers they’re at higher risk for earlier in their lives than the general population, sometimes starting in their thirties and forties, according to the US National Library of Medicine (USNLM).

The woman in the new case report ended up undergoing a modified radical mastectomy of her right breast and a prophylactic mastectomy of her left breast. Unfortunately, the case report didn't say how the woman fared after her treatment.