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Chetan Bettegowda: Toward Personalized Care

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Recommended by: Bert Vogelstein, Johns Hopkins University

In his research to advance personalized treatments for patients with brain and spinal tumors, Bettegowda is seeking to solve a puzzle that doctors have been observing for years. Why do two patients, who seemingly have very similar disease characteristics, end up having disparate outcomes?

The fact that certain patients "will respond so well to a particular therapy, while others will remain recalcitrant has been a well observed phenomenon clinically for very many years, and any physician can tell you that," says Bettegowda, an assistant professor at Johns Hopkins. "But trying to understand why that is has amazing potential to have tremendous impact for the patients."

Bettegowda is currently developing a blood test to diagnose disease and track tumor burden for patients with central nervous system tumors. Currently, there is little in the way of molecular tools to gauge disease progression for patients with tumors in the brain and in the spinal cord. By developing a prognostic molecular test, Bettegowda is hoping to create a tool that oncologists can use to better track disease progression in patients and gauge their future outcome.

Paper of note

Additionally, Bettegowda and researchers at Johns Hopkins and elsewhere, have made significant inroads in characterizing the molecular alterations underlying oligodendrogliomas, the second most common malignant brain tumors in adults. Bettegowda and his colleagues sequenced the exome regions of seven tumors and discovered that the CIC gene on chromosome 19q was mutated in six tumors and the FUBP1 gene on chromosome 1p was mutated in two tumors. To further validate this discovery, the researchers examined 27 additional oligodendrogliomas and found CIC mutations in 12 tumors and FUBP1 mutations in three tumors. In a paper published in Science in September 2011, Bettegowda and colleagues concluded that these markers may play a "critical role" in the biology and pathology of these types of brain tumors.

Looking ahead

Based on this research, Bettegowda is currently investigating the specific pathways where these genes are and aims to one day develop personalized treatments targeting them. Although clinicians for many years have observed losses of chromosomes 1p and 19q among oligodendroglioma patients, "the two genes we found haven't previously been implicated in cancer," Bettegowda says, acknowledging that his goal of advancing molecularly targeted personalized treatments for oligodendrogliomas may be several years away from entering human studies. "There's not a lot of research surrounding [these genes] and we have to build up that knowledge before getting an efficacious therapy into the clinic."

One of the main challenges Bettegowda faces in his work is the rarity of such tumors. Even the most common types of primary brain tumors, such as glioblastomas, occur in two to three people per 100,000, annually. As such, it is difficult to garner the necessary patient samples to conduct biomarker discovery and translational research in these disease settings. "It's not like in breast or colorectal cancer, where there are hundreds of patients being treated at a hospital like Hopkins," Bettegowda says. "The tumors we're studying, there are five cases a year, and that becomes a challenge from a resource-gathering standpoint."

Despite the challenges, Bettegowda is encouraged that more and more CNS tumor types are becoming molecularly defined. He remains hopeful that, in the next five years, the emerging genomic data will be increasingly applied by oncologists to the clinical management of patients.

And the Nobel goes to…

Bettegowda says he doesn't spend too much time thinking about winning the Nobel Prize, but he nominated his mentor at Hopkins, Bert Vogelstein, for the top accolade. "He has been a tremendous role model," he says. "Every year, when they announce the Nobel Prize in Medicine, I hope it's Bert because I think his accomplishments are spectacular."

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