Jeffrey Ellin, a 46-year-old Baltimore resident and an avid long-distance runner, brought himself to the Levi Watkins, Jr., M.D., Outpatient Center in February 2020 with a small cosmetic complaint that would unexpectedly become a years-long challenge for him and his physicians.
"I had a mole on my neck that would rub against my shirt line and get nicked by the barber, and I just wanted it gone," he says.
Removal of the growth had been simple, but a pathologist soon came back with surprising news. The skin lesion was a BAPoma, a benign skin tumor found exclusively in patients with BAP1 tumor predisposition syndrome, a condition so rare that scientists aren't sure of its prevalence in the general population.
The inherited disorder is caused by mutations in the BRCA1-associated protein 1 (BAP1) gene that normally stops cells from growing uncontrollably, and it can increase the lifetime risk of developing both cancerous and noncancerous tumors of the eye, kidney, skin and mesothelium (inner tissue that lines the chest and abdomen).
After referral to the Center for Genetic Counseling within the Johns Hopkins Department of Genetic Medicine, Ellin was formally diagnosed with the syndrome and advised to start receiving quarterly checkups for melanoma, a serious form of skin cancer, along with regular visits to other specialists, such as ophthalmologists, to check for tumors. Meg Gerstenblith, M.D., a Johns Hopkins dermatologist, became the first member of Ellin's new care team.
"Because of Jeffrey's condition, melanoma could appear on any part of his body, making routine skin checks essential," says Gerstenblith.
Shocked by his diagnosis, Ellin found comfort in learning about the condition, asking questions and taking the reins of his medical care.
"The way I ended up viewing it was, I can't control my body, but I can control my mind. I educated myself as much as I could."
Because of Ellin's high risk for mesothelioma and kidney cancer ― two diseases for which there aren't reliable diagnostic tests or clear disease screening guidelines ― he also began receiving positron emission tomography (PET), magnetic resonance imaging (MRI) and computed tomography (CT) scans at the National Institutes of Health (NIH) Clinical Center. After each set of scans, Ellin would meet with his health care providers at Johns Hopkins, sharing findings and observations.
Early on, Ellin explored how his diagnosis could impact his family. Because the condition is an autosomal dominant disorder, any child who inherited a single mutant BAP1 gene would develop the syndrome as an adult.
"I have a daughter and the first thing I thought was 'does she have it?' and 'when's the right time to test her?" recalls Ellin.
After consulting with his medical providers and family, Ellin waited until his daughter turned 18 to test for the disorder and was relieved to learn that her results were negative.
Since 2020, Ellin has been diagnosed with five early-stage melanomas at Johns Hopkins and has had several BAPomas and atypical moles removed because they were expected to become cancerous due to his condition. In 2023, he also received a stage 4 kidney cancer diagnosis, which was treated until mid-2024.
From Ellin's case, his Johns Hopkins providers say they have learned a lot about BAP1 tumor predisposition syndrome. His dedication to staying at the forefront of knowledge regarding his diagnosis continually motivates his care team to learn more.
"There are still gaps in what we know," says Gerstenblith. "But working with Jeffrey sets a high bar as to how a patient can face a difficult diagnosis. His energy and curiosity are contagious."
In between checkups, treatments and clinical trials, Ellin travels around the world for work and pleasure. Since 2014, he has run in the Marine Corps Marathon — held every October in Washington, D.C., and Arlington County, Virginia — to remember a friend who was killed in action.
"It's my way of keeping active," he says. "At this point, my [race] times aren't great, but reaching the finish line is important to me. That's the same mindset I bring to my recovery, seeing it as a challenge and trying to figure out how best to tackle it."
When he isn't running a marathon, Ellin is preparing for his next one. Recently diagnosed with mesothelioma, Ellin plans to run the 2026 Marine Corps Marathon after recovering from a series of planned operations at the NIH.
At times, Ellin says his surgeries and treatments have made training and marathon participation difficult. Still, he gives credit to his care at Johns Hopkins for his ability to continue his hobbies and his career as a product architect.
While many aspects of BAP1 tumor predisposition syndrome remain unknown and the risk of developing additional cancers persists with age, Ellin says the care he has received makes the future less daunting.
"Dr. Gerstenblith and my Hopkins providers have been great to work with," Ellin says. "They're always willing to teach themselves something new if it will help treat me. They're truly interested in my well-being."
