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Breast Matters - Taking on Rare Tumors

Breast Matters - Fall 2014
Issue No. 5

Taking on Rare Tumors

Date: December 15, 2014


Not all breast cancers are the same. Some rare forms of breast cancer are more difficult to diagnose than others—they don’t always respond to commonly used therapies. Since most healthcare professionals do not see rare cancers regularly, too often they are misdiagnosed or poorly understood. But that’s not the case at the Johns Hopkins Kimmel Cancer Center.

Here, our breast cancer specialists routinely see patients with rare cancers, and a select team of our physician-scientists is actively engaged in research to uncover the makeup of these cancers—right down to the cellular level. Ashley Cimino-Mathews, MD, assistant professor of pathology, is at the forefront of this important research.

“I focus on diagnosis and understanding the biology of these rare forms of the disease. Hopefully it will yield new therapeutic targets,” Cimino-Mathews says. Among these rare forms are metaplastic, inflammatory, and male breast cancers.

Metaplastic breast cancer

This rare form of breast cancer is sometimes mistaken for other lesions. Metaplastic breast cancer tends to respond poorly to targeted or general therapies, which is reflected in patients’ survival outlook.  The five-year survival rate for patients with this diagnosis is just 60 percent.

“These tumors look different on the cellular level,” says Cimino-Mathews. She and her colleagues have already investigated protein expression in these tumors.  They plan to find out more about the makeup of these tumors as they embark on a research project that will explore their genetic characterization.

Cimino-Mathews, the principal investigator on the project, anticipates that the project will result in some important findings. She and her team members aim to identify molecular abnormalities driving metaplastic breast cancer tumor progression and that differentiate it from the most common form of breast cancer, called conventional infiltrating ductal breast cancer, which makes up about 80 percent of all breast cancer diagnoses. The research project also may allow the researchers to identify molecular targets for potential novel therapies.

Inflammatory breast cancer

Breast cancers are most commonly associated with a lump in the breast, but that is not the case with inflammatory breast cancer. The telltale sign of this rare form of breast cancer is changes to the skin on the breast, which becomes thickened, reddish, discolored, and puckered, according to Cimino-Mathews. “It can be a challenge to treat because it’s not always a discrete mass. It is widespread through the lymphatics of the breast.”

This form, which constitutes less than 10 percent of all cases, is a puzzle that Cimino-Mathews hopes to solve. “Efforts at Johns Hopkins are underway to see why this disease might look so different than other breast cancers. It only involves skin lymphatics, and it’s fairly aggressive,” she says.

Male breast cancer

Many people aren’t aware that breast cancer can affect men.  Although male breast cancer is indeed rare, making up less than 1 percent of all breast cancer diagnoses, it remains a concern for the more than 2,000 diagnosed each year, 450 of whom die from the disease. “It’s much less common, but we do see cases in our pathology practice,” Cimino-Mathews says.

She and her colleagues are working to learn more about the rare disease. They recognize that hormone imbalances can trigger male breast cancer. Now, they are studying the role of androgen receptors—hormone receptors that regulate gene expression—in male breast cancer.

As Johns Hopkins physician-scientists like Cimino-Mathews specialize in diagnosing rare breast cancers and dedicate their research to learning more about them, an increasing number of patients can count on accurate diagnosis and more targeted, effective therapies.