Jeffrey Ellin's Multi-Year Challenge: A Runner's Journey with BAP1 Syndrome
Jeffrey Ellin, a 46-year-old Baltimore resident and long-distance runner, presented to the Levi Watkins, Jr., M.D., Outpatient Center in February 2020 for the removal of a mole on his neck. The mole's removal led to a diagnosis that would become a multi-year medical challenge.
Initial Diagnosis Unveiled
A pathologist identified the removed skin lesion as a BAPoma, a benign skin tumor exclusively found in patients with BAP1 tumor predisposition syndrome. This rare inherited disorder is caused by mutations in the BRCA1-associated protein 1 (BAP1) gene, which typically regulates cell growth. Mutations in this gene increase the lifetime risk of developing cancerous and noncancerous tumors of the eye, kidney, skin, and mesothelium.
Ellin was formally diagnosed with BAP1 tumor predisposition syndrome following a referral to the Center for Genetic Counseling at Johns Hopkins. He was advised to undergo quarterly checkups for melanoma and regular visits to other specialists, including ophthalmologists. Dr. Meg Gerstenblith, a Johns Hopkins dermatologist, became a primary member of his care team.
Ongoing Management and Family Impact
Due to the high risk of mesothelioma and kidney cancer, for which diagnostic tests and screening guidelines are not well-established, Ellin also began receiving PET, MRI, and CT scans at the National Institutes of Health (NIH) Clinical Center.
Given that BAP1 tumor predisposition syndrome is an autosomal dominant disorder, Ellin consulted medical providers and family before his daughter was tested for the condition upon turning 18. Her results were negative.
Health Progression and New Diagnoses
Since 2020, Ellin has been diagnosed with five early-stage melanomas at Johns Hopkins and has had multiple BAPomas and atypical moles removed. In 2023, he received a stage 4 kidney cancer diagnosis, which was treated until mid-2024. More recently, he was diagnosed with mesothelioma and is planning operations at the NIH.
Patient Engagement and Medical Insight
Ellin has actively engaged with his diagnosis, seeking information about the condition.
His dedication to understanding BAP1 syndrome has provided valuable learning opportunities for his Johns Hopkins care team.
Despite surgeries and treatments impacting his ability to train for marathons, Ellin continues to participate in events like the Marine Corps Marathon, citing it as a way to maintain activity and a challenge to overcome.
Despite surgeries and treatments impacting his ability to train for marathons, Ellin continues to participate in events like the Marine Corps Marathon, citing it as a way to maintain activity and a challenge to overcome.
He credits his care at Johns Hopkins for his ability to continue his hobbies and career as a product architect. Providers at Johns Hopkins have expressed that Ellin's experience and proactive approach are significant in understanding this rare syndrome, acknowledging that gaps in knowledge still exist.