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Johns Hopkins Pediatric

Cracking the Code of Adenoid Cystic Carcinoma

December 2, 2016


“If you’re the one with the disease, percentages don’t matter.”
- Mariana Brait

Of the estimated 566,000 new cancer diagnoses made each year in the United States, adenoid cystic carcinoma (ACC), a cancer mainly found in the salivary glands, represents only 0.2 percent.

“But, if you’re the one with the disease, percentages don’t matter,” says Mariana Brait, assistant director of the Head and Neck Cancer Research Division of the Johns Hopkins Department of Otolaryngology–Head and Neck Surgery. That’s why she’s made ACC a central focus of her research career.

Unlike other more common cancers, such as breast, prostate or lung, there are no effective treatments for ACC. Researchers still know virtually nothing about the causes of this cancer and how it develops and spreads, says Brait, a roadblock that hampers discovering new therapies.

The key to finding new tools to attack this disease, she explains, is gathering clues about how ACC cells are different from those in healthy tissues. In the past several years, researchers working on this disease at Johns Hopkins and other institutions have discovered that these cancerous cells often possess an unusual trait: a rare type of genetic alteration in which part of one gene has broken off and fused to another. Though these fusions affect the same two genes, they’re not identical from patient to patient—the genes are broken and fused at different points.

Whether these alterations have differing effects on the disease is unknown. However, it could make a big difference for patients, says Brait. If researchers had an idea of how each mutation type affected individual patients, they could tailor conventional therapy to be more effective or, eventually, develop targeted medicines aimed at disrupting the products of these fused genes.

To make those possibilities a reality will require research to identify mutation types in hundreds of tissue samples from patients and try to correlate them with the disease characteristics that doctors see in the clinic. This includes identifying whether patients’ disease recurs after treatment, whether recurrence was local or in distant metastatic sites, or how long patients ultimately survived after diagnosis, for example. Performing this work will take research funding that’s in short supply.

Determined to make this research concept a reality, Brait applied for a grant from the Adenoma Cystic Carcinoma Research Foundation (ACCRF), a nonprofit that supports research to improve therapies and accelerate a cure for this disease.  

In February, she learned ACCRF had fully funded her grant proposal for two years at $100,000 each year.

“It was a huge deal to me because this is really my first independent grant, ideas that I initiated and that I can bring to fruition. It also means a lot in the head and neck community,” says Brait. “With these funds, my colleagues and I will have a chance to make a real difference for patients with ACC.”


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