That idea was quickly put to the test. Shortly after publishing the genetic data, Brastianos encountered a 39-year old patient with recurrent craniopharyngioma who required 4 urgent surgeries for tumor regrowth over the course of just a few months. When the man returned a fifth time with a solid recurrence, Brastianos tested the tumor for mutations and found BRAF.

She immediately started treatment with an oral BRAF inhibitor combination developed and currently used to treat melanoma. Within two weeks, the patient’s tumor had shrunk by half. After a month of treatment, the tumor volume was reduced by 85%. The patient went on to successful surgery and radiation treatment.


Brastianos recently published the case report, marking the first time that systemic therapy has been used successfully for craniopharyngioma. “This was incredible to see. The patient did remarkably well, and continues to do well,” she said.

One patient does not a new treatment make, but the dramatic result motivated the Mass General team to design a clinical trial that will open nationwide in the next few months. The multicenter, phase II study will enroll both newly diagnosed and recurrent papillary craniopharygioma patients for treatment with the BRAF-targeted combination treatment.

The ability to repurpose existing cancer treatments makes for rapid advances. “In craniopharyngioma, we went from genetic mutation to clinical trial in less than two years. That’s incredibly satisfying,” Brastianos said.

Genomic discovery is especially powerful for rare tumors, said Mass General neurosurgeon Fred G. Barker II, MD. “We don’t see drugs developed for these rare cancers. But as we gain knowledge, as in craniopharygioma, we’re lucky if we find a mutation that the cancer research/industrial partnership has already targeted. We get a spin-off benefit by using drugs originally developed for more common cancers.”

In the trial, the physicians will also be trying out a blood test for the mutation, looking for tumor DNA in patients’ blood. The test was developed in melanoma patients, and could be very useful to allow early treatment of brain tumors.

“If we can detect the mutation non-invasively, we could potentially use this drug before surgery,” said Barker. “The side effects of the medication were close to zero, and we’re hoping that by using these kinds of medications earlier in the process, we can make the surgery and radiation easier and safer.”

The most common malignant tumor challenge for neuro-oncoloists, and Brastianos’ main focus these days, are brain metastases. About 25% of cancer patients develop brain metastasis, most commonly from lung or breast cancers, or melanoma, and their incidence is increasing as better treatments help patients live longer.

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