The American Cancer Society estimates 232,340 new cases of invasive breast cancer — cancers that have the ability to travel to distant parts of the body — will be diagnosed by the end of 2013. Many cancers will be found after a woman discovers a hard, uneven lump during a breast self-exam or an annual mammogram shows a suspicious shadow.
Yet for women who develop some of the breast cancers highlighted in this article, which account for roughly 2 to 14.5 percent of all diagnoses each year, these common stories may not hold true.
“These rare cancers can take many women by surprise because they aren’t garden-variety,” says Anees Chagpar, MD, an associate professor of surgery at the Yale School of Medicine and director of the Breast Center at Smilow Cancer Hospital at Yale-New Haven.
Paget Disease of the Breast
“We women believe we have good knowledge of breast cancer with the amount of information that’s available today,” says Ivy Szematowicz, 63, of Brandon, Fla. “But so often we’re hearing broad generalizations and we could be ignoring serious symptoms.”
Ivy first noticed a flaking of the skin of her nipple during a breast self-exam. At first she was unalarmed. The sore left by the flaking seemed unremarkable. But when it didn’t heal with time, she went to her gynecologist.
“He seemed unconcerned and told me to use Eucerin cream to moisturize the dry areas,” Ivy recalls. “I felt a little foolish for being there because I thought I was worrying for no reason.”
After an annual mammogram came back clear, Ivy still had no answer as to why the skin around her nipple was flaking. Several months later, her gynecologist sent her to a dermatologist who ordered a biopsy. The biopsy confirmed Paget disease of the nipple — also called Paget disease of the breast — nearly a year after she first noticed symptoms.
In Paget disease of the nipple, cancer cells travel from a tumor inside the breast — most often from the ducts, or pathways that carry milk, but also from the lobules, or milk glands — to the skin of the nipple and the areola, the dark circle around it. This can cause symptoms similar to many skin conditions including itching, tingling, redness or flaking skin. In some cases, a yellowish or bloody liquid may leak from the nipple, or the nipple might invert and become flat.
Some experts believe in other cases cancer cells form in the nipple or areola itself, which explains why a small number of women with Paget disease of the nipple do not have a primary tumor in the breast or have a separate, unrelated tumor from the disease in the nipple.
By the end of 2011, Ivy had surgery to remove the nipple and areola — sometimes called a central lumpectomy — and radiation therapy. Because Paget disease can be hormone receptor-positive or HER2-positive, treatment plans follow the standard of care for those subtypes and are influenced by whether or not the cancer has traveled to lymph nodes.
“People automatically think that breast cancer presents as a lump,” says Ivy. “I walked around with cancer for a year without knowing. If you have a sore, no matter how small, see a doctor and ask them to rule out Paget.”
Malignant Phyllodes Tumor
Carey Persico, 52, of Massapequa Park, N.Y., is one of the estimated 500 to 1,000 women living in America each year who are diagnosed with a malignant phyllodes tumor, according to Richard J. Barth, Jr., MD, associate professor of surgery and section chief of general surgery at the Geisel School of Medicine at Dartmouth.
Two weeks before an annual mammogram and ultrasound, Carey felt something unusual but dismissed it because, like many women, she has fibrocystic breasts — breasts that naturally feel lumpy because of the way the tissue grows.
“When the radiologist told me there was ‘something’ on my scan, I assumed that ‘something’ would be defined,” says Carey. “It was only after a core-needle biopsy was performed and [a tumor sample was] sent to [The] Mount Sinai Department of Pathology for further [analysis] that I was informed of this rare phyllodes tumor.”
While malignant breast tumors usually feel jagged and hard, a phyllodes tumor is unique in that, whether malignant or benign, it feels smooth and moveable — like a benign breast tumor called a fibroadenoma. Pathology tests must confirm the lesion as phyllodes, because it looks similar to a fibroadenoma on imaging tests.
Unlike most other breast cancers that grow in the lobules or ducts of the breast, phyllodes tumors arise in the connective tissue. They often grow so quickly that tumors can be as large as 3 or 4 centimeters when they are first found. When they test malignant, they must be promptly removed through surgery, along with a wide margin of surrounding healthy tissue, to prevent them from traveling beyond the breast.
Given the low number of people diagnosed each year, clinical trials are difficult to pursue, so there are some unknowns about the disease.
“Pathologists know what phyllodes tumors look like and can identify them,” says Dr. Barth. “Sometimes they are estrogen receptor-positive or progesterone receptor-positive, but we don’t have the clinical evidence to know what treatments are most likely to work as we [do] with other breast cancers.”
Phyllodes tumors don’t respond well to chemotherapy or hormonal therapy, so surgery is the primary treatment. Radiation therapy may also be offered in some cases. Whether it is necessary for treating phyllodes tumors is still a controversy, one Dr. Barth is studying in phase II clinical trials.
Medullary Breast Cancer
Medullary breast cancers are soft, well-contained masses that are usually triple-negative. Under the microscope, their cells appear poorly differentiated — unlike normal breast cells that are well developed and specialized — and are arranged in sheets without glands.
Linked to a mutation in the BRCA1 gene, medullary breast cancers are often associated with better outcomes than more common invasive ductal cancers — those that begin in and travel beyond the milk ducts. This is because they are usually found before the cancer has traveled to the lymph nodes. Only 10 percent of those diagnosed with medullary breast cancer have cancer in the lymph nodes at the time of diagnosis.
Nichole Daegele, of New Haven, Conn., was diagnosed with medullary triple-negative breast cancer in 2011 at age 26.
“I learned I had triple-negative breast cancer, but nothing about it also being medullary,” says Nichole. “It’s not only rare. There’s not a lot of information about it, and what there is, you have to look for.”
The criteria for identifying medullary breast cancer is “not necessarily standardized,” says Karen L. Smith, MD, MPH, medical oncologist and clinical associate of the breast cancer program at the Johns Hopkins Kimmel Cancer Center. “However, there’s no evidence that treatment decisions should be made differently than for other forms of breast cancer.”
Nichole had a double mastectomy, 6 months of chemotherapy, and 5 weeks of radiation therapy in 2012. She underwent genetic testing because of her young age and because the tumor was both triple-negative and medullary, but tested negative for mutations to both BRCA1 and BRCA2. The negative result left her with more questions.
“Mine really seems to be a sporadic case. No one knows how or why it formed this way,” she says. “No matter what, you should be proactive and persistent about your health. No matter how young you are.”
Inflammatory Breast Cancer
Inflammatory breast cancer affects approximately 4,000 people each year, says Ricardo H. Alvarez, MD, MSc, assistant professor in the department of breast medical oncology at the University of Texas MD Anderson Cancer Center and in the Morgan Welch Inflammatory Breast Cancer Research Program and Clinic in Houston. Like Paget disease of the nipple, it is marked by symptoms a woman might notice but not attribute to cancer.
“IBC usually appears in younger women, and the symptoms come on in a very short period of time, in as few as 3 to 4 weeks,” he says. “Not all physicians are familiar with it, so in many cases women are told it may be mastitis.”
Mastitis is an infection of the breast tissue that causes the same redness, swelling, warmth and tenderness as IBC. However, if a doctor prescribes an antibiotic and the symptoms don’t go away, the issue is unlikely to be mastitis.
Joshlyn Earles, 62, of Rialto, Calif., felt some of these symptoms before her own diagnosis. Yet it was a scan done by a chiropractor she consulted for unrelated back pain that showed an abnormality, suggesting she might have cancer. At his direction, she made an appointment with an internist but, even then, felt her concern was unaddressed.
“He didn’t think a chiropractor could find cancer with a digital picture,” Joshlyn remembers.
Before her regular visit to her primary care physician, Joshlyn had pain in her right breast and a small lump above her nipple. Her doctor ordered a mammogram, but all it showed was a spot slightly denser than the rest of the breast.
She eventually had a coned down mammogram, a test able to check one portion of the breast more thoroughly. A biopsy later confirmed IBC.
In the cancer world, IBC is what Dr. Alvarez calls an “orphan” disease — one that doesn’t have a specific molecular signature, clear targeted treatment options or means of prevention. It’s also aggressive and diagnoses seem to be on the rise.
Dr. Alvarez and colleagues at the Morgan Welch Inflammatory Breast Cancer Research Program and Clinic are working toward a better understanding of IBC and how to treat it. To date, they believe there may be as many as 10 subtypes, all different from one another.
“Clinical trials are the best way for IBC to be treated,” he says. “Subtyping has brought about a new era for the treatment of not only common and rare breast cancers, but all cancers.”
Paget’s Disease of the Breast
Medullary Breast Cancer
- Medullary Breast Cancer — The Sidney Kimmel Comprehensive Cancer Center
- IDC Type: Medullary Carcinoma of the Breast — BREASTCANCER.ORG
- Medullary Breast Cancer — Breast Cancer Care, UK
- Dartmouth-Hitchcock Norris Cotton Cancer Center – Clinical Trials
- Phyllodes Tumors – Johns Hopkins Breast Center
- Phyllodes Tumors – American Cancer Society
Inflammatory Breast Cancer
- Inflammatory Breast Cancer Foundation
- Inflammatory Breast Cancer Research Foundation
- Fighting 4 the Tatas Breast Cancer Organization
- National Cancer Institute – Inflammatory Breast Cancer
- University of Texas MD Anderson Cancer Center – Morgan Welch Inflammatory Breast Cancer Research Program and Clinic