The diagnosis behind the diagnosis

In July 2013, 14-year-old Milan Gambhir – who had been a healthy child – was diagnosed with one of the most aggressive and incurable brain tumors: glioblastoma multiforme (GBM). The diagnosis would be devastating for any family, but for the Gambhirs, who had dedicated their lives to cancer diagnosis and research, the coincidence was brutal.

Milan’s father, Sanjiv “Sam” Gambhir, MD, PhD, chair of the Department of Radiology, director of the Molecular Imaging Program at Stanford, and director of the Canary Center at Stanford for Early Cancer Detection, had been studying GBM in his lab. Milan’s mother, Aruna Gambhir, CEO of a small biotechnology start-up, focused on cancer imaging for immunotherapy. And Milan himself, a freshman in high school volunteering in a structural biology lab at Stanford, had just pitched a concept for a comfortable, low-cost ultrasonic wristband device that could diagnose a recurrence of cancer through microbubbles that would attach to circulating tumor cells in the bloodstream.

But the cause of Milan’s cancer was at a level deeper than any of them had suspected. Milan had a rare vulnerability to cancer that had been with him his whole life.

In the fall issue of Stanford Medicine Magazine, I’ve written the story of the extremely rare genetic condition that increased Milan’s susceptibility to cancer. After his surgery to remove his frontal lobe tumor, Milan underwent genetic counseling and tested positive for a genetic mutation called Li-Fraumeni.

My story looks at how, despite the very worst odds, Sam Gambhir was still determined to try anything to save his son, calling upon his colleagues at Stanford and around the country for help and investigating even unorthodox treatments. “It is more frustrating and anxiety-provoking when you know what the outcomes of patients with GBM are,” recalls Gambhir. “You feel helpless to do anything. And yet, you try.”

Julie Greicius is a freelance writer for Stanford Medicine Children’s Health.

Photo of Sam and Aruna Gambhir by Timothy Archibald