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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.

For 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.

Li-Fraumeni syndrome — named for Frederick Pei Li, MD, and Joseph F. Fraumeni Jr., MD, the American physicians who first identified it in 1969 — is a rare, inherited condition that dramatically increases the risk of many types of cancer by passing from generation to generation a mutated copy of the body’s natural tumor-suppressor gene, known as p53. Since 1969, only about 500 families worldwide have been reported to have the condition, though its actual prevalence is unknown.

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.”

Milan underwent many traditional and some experimental treatments over the next 21 months, none of which could save him from his deadly cancer and underlying genetic condition. A multitude of specialists participated in his care, recognizing that any treatment that might help Milan could potentially help other patients as well.

In addition to the specialists mentioned in my story, Andrei Iagaru, MD, and Frederick Chin, MD, professors of radiology at Stanford, helped with PET scanning for Milan. As Milan lost his hearing, he had the care and support of Robert Jackler, MD, professor in otorhinolaryngology at Stanford. Many other specialists at other academic medical centers also played a role in Milan’s care, including Timothy Cloughesy, MD, director of the neuro-oncology program at the UCLA Medical Center; Duane Mitchell, MD, PhD, co-director of the Preston A. Wells Jr. Center for Brain Tumor Therapy and director of the UF Brain Tumor Immunotherapy Program at the University of Florida, Gainsville; and Paul Mischel, MD, professor of pathology at the UCSD Medical Center.

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

Previously: The power and limits of zeroing in: Stanford Medicine magazine on diagnostics and Researchers develop molecular target for brain cancer
Photo of Sam and Aruna Gambhir by Timothy Archibald

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