Diagnosis Cancer: Beginning the Journey

By Alice McCarthy

A woman finds a breast lump or has a suspicious shadow on her mammogram. It’s the point where further medical evaluation is necessary. But what to do next and where to find the best diagnostic procedures can be daunting.

For Mary-Ellen Baugh-Swartz, a 51-year-old nurse and mother of four boys from Perrysburg, Ohio, her entry into the world of a breast evaluation came when she noticed a constant pain in her left breast. “There was no lump that could be felt,” she says, “but a thorough diagnostic evaluation was ordered, which did find a cancer.”

Imaging Techniques
Evaluating breast changes or masses usually starts with a mammogram or sonogram (ultrasound) performed by a radiologist. While mammograms are X-ray images of the breast, sonograms use sound waves to investigate specific breast masses and lumps, or tender, painful, or swollen areas.

“In women under 30, the first step to diagnosing a breast mass is a sonogram,” explains radiologist Phil Evans, MD, director, Center for Breast Care, Southwestern Medical Center, Dallas, who explains that mammography may not clearly show breast tumors in women with denser breasts, which includes younger women. “Mammography is the first exam for a woman over 30.

“In many cases, sonography can determine if suspicious tissue is related to breast tissue, a cyst, or a solid lump,” he says.

But because sonography detects many benign or noncancerous abnormalities, its use is limited to diagnostic situations evaluating a particular area of concern instead of as a screening technique.

For women over 30, who generally tend to have less dense breast tissue, mammograms are a good imaging technique to evaluate the entire breast and any areas needing specific attention. “If the mammogram does show something, the next step would be the sonogram,” says Dr. Evans. He says that for most women, a thorough breast imaging evaluation includes both imaging techniques used in a complementary way.

“Mammography is used generally as the first tool in diagnosis, while sonography is used as a method to characterize a ‘palpable’ mass—one that can be felt—or a mammographic abnormality,” he says.

Donald Berry, PhD, professor and chairman, Department of Biostatistics, M. D. Anderson Cancer Center, Houston, says an important issue with mammography and sonography readings is the incredible variability among radiologists’ skill.

Certified radiologists are required to read at least 480 mammograms yearly. “However, mammograms are interpreted by humans with varying abilities to detect a mass,” he says. Dr. Berry’s advice: If a radiologist is unsure of a mass, seek another mammogram or sonogram with a different radiologist.
Anything short of these basic imaging steps is reason to seek other medical opinions.

“My family doctor initially did not think my breast needed further immediate evaluation,” says Baugh-Swartz, who was told to wait three months for her annual mammogram. But her own experience as a hospice nurse and the wife of a man who lost his first wife to breast cancer urged her to seek complete diagnostic testing.

“I would tell other women not to wait, even for a few weeks or months, if something shows up abnormal on a mammogram,” she says. “Getting that peace of mind is important, though you may have to be persistent and push for thorough testing.”

Finding the Right Doctor
For those living in or near large cities, specialized breast care centers offer the expertise and convenience of providing varied medical specialties in one location.

“The most effective diagnostic and treatment approach involves a team with the radiologist, surgeon, pathologist, medical oncologist, radiation therapist, and plastic surgeon working together as needed,” says Dr. Evans.

In less urban areas, general surgeons may be regarded as the breast specialists. When choosing a doctor, Dr. Evans recommends asking a potential practitioner what relationships are already in place with other members of a breast care team.

State and local branches of the American Cancer Society work with physician referral services that will provide names and details of local breast care specialists. “One of the best ways I found to find the best doctor was to ask a nurse,” says Baugh-Swartz, because they are often most familiar with a variety of local practitioners. “Also, ask other women who have had breast cancer who they recommend.”

Biopsy
Once a radiologist determines that a breast image shows a persistent area of concern, the next step in the diagnostic process is some form of biopsy, removal of a sample of breast tissue for examination by a pathologist. A radiologist or surgeon will perform the biopsy, which can range from a needle that removes a “core” of the suspicious area to a more invasive “excisional” biopsy done by a surgeon.

Three needle breast biopsy methods—fine needle aspiration (FNA), core biopsy, and vacuum-assisted biopsy—are commonly used. “FNA removes the least amount of tissue,” says Dr. Evans, “so we use it mainly for procedures such as cyst aspiration.”

More commonly, core and vacuum-assisted biopsies are performed for breast mass evaluations, says Michael D. Grant, MD, breast surgical oncologist, Baylor University Medical Center, Dallas. Core biopsy withdraws a segment of breast tissue using a larger needle than FNA. “We like it because our pathologists always prefer to have more tissue to make a better diagnosis,” says Dr. Grant.

Vacuum-assisted biopsy uses gentle suction to withdraw larger segments of tissue than with FNA or core biopsy into a pencil-sized needle. This method is particularly useful for obtaining a biopsy of microcalcifications, or small calcium deposits, because larger samples of tissue are required to make a more accurate diagnosis in these circumstances.

Microcalcifications appear on a mammogram as clusters of spots that may indicate the presence of cancer and are often biopsied using a procedure called stereotactic biopsy, which involves placing the breast in a mammogram machine and using a computer-guided biopsy needle to pinpoint the location of a suspicious area before removing it, often with vacuum assistance.

A radiologist or surgeon can biopsy most women by using local anesthesia in their office. A more invasive form of biopsy, called excisional or open biopsy, requires a surgeon and operating room. Excisional biopsies remove the entire breast mass whether it is malignant or not. Before the development of needle sampling, excisional biopsy was the only method for making a tissue diagnosis.

“Today, fewer patients have surgery for diagnosis, because needle sampling has been shown to be so valuable,” says surgical oncologist Benjamin O. Anderson, MD, clinical medical director, Breast Care and Cancer Research Program, University of Washington, Seattle. However, excisional biopsy still remains valuable, particularly when needle sampling cannot provide a definitive diagnosis.

Pathology Results
After biopsy, the pathologist microscopically examines breast tissue stained with dyes to check for the presence and location of cancer cells, and a number of proteins important for determining prognosis and treatment options. If cancer is found, the pathologist will first determine the type.

More than 80% of breast cancers originate in the milk ducts. If the cancer has remained within the duct, it is diagnosed as ductal carcinoma in situ, sometimes known as intraductal cancer or noninvasive cancer. If it has spread beyond the cells of the duct lining into the surrounding fat and connective tissue, it is invasive or infiltrating cancer.

“This type of cancer has the ability to leave the breast through the blood vessels and lymphatic system,” says Dr. Grant.

Approximately 15% of breast cancers called “lobular” carcinoma originate in the grape-like lobules in the breast that produce milk. This cancer rarely spreads to nearby tissue.

Inflammatory cancers, which are particularly aggressive, tend to mimic the look of a breast infection. The breast may be sore, tender, swollen, and red—a consequence of cancer cells clogging up the lymph vessels . “Fortunately, inflammatory breast cancer is rare,” says Dr. Grant.

Once the pathologist has determined that a malignancy is present, a number of tests will be conducted that give the physicians more clues as to the best treatment. This information combined with the woman’s age, whether she is premenopausal or postmenopausal, and a number of other factors will be used to plot the best treatment path.

Hormone receptor tests are performed routinely in women diagnosed with breast cancer. Hormone receptor status helps identify those women whose tumors are considered hormone sensitive and who will benefit from hormonal therapies.

“The breast is an organ that is responsive to hormonal signals,” says Victor G. Vogel, MD, director, Magee/University of Pittsburgh Cancer Institute Breast Cancer Prevention Program, Pennsylvania. “The presence of estrogen receptor in breast tumors is a better prognostic feature than its absence. Women whose breast tumors make hormone receptor proteins to estrogen and/or progesterone live longer and respond better to treatment than women whose tumors do not make those proteins.”

Dr. Vogel says hormonal therapy is among the most effective and best-tolerated treatment currently available for breast cancer.

Pathologists also look for a protein in the breast tissue called HER2/neu. This protein is present in very small amounts on normal breast cells, but about one-fourth of breast cancers have too much of the protein. “Tumors that overproduce the HER2 protein on average are more aggressive, and women with HER2-positive tumors respond less well to therapy than women whose tumors do not,” explains Dr. Vogel.

Lymph Node Evaluation
When it has been determined that a woman has invasive breast cancer, a major prognosticator will be whether the cancer has moved beyond the breast into the lymph nodes, bean-sized collections of immune cells located in the chest area and under the arm. Before breast cancer spreads (metastasizes) to other organs, it usually travels first to the lymph nodes in the armpit. Lymph node evaluation also helps determine overall prognosis and guide treatment after surgery.

A relatively new surgical procedure called sentinel node biopsy (see CURE, Summer 2002) changed the way lymph node evaluation had been done for nearly 100 years. Instead of removing a large number of lymph nodes, which in about 20% of women leads to lymphedema, or painful swelling (see CURE, Spring 2003), sentinel node biopsy removes the lymph node that is most likely to harbor breast cancer cells.

“We do this by mapping out the lymph pathways from the breast,” says Dr. Grant. The surgeon injects a blue dye or radioactive substance around the tumor site. This tracer travels to a small group of nodes in the armpit most likely to be first affected by traveling cells, the sentinel nodes. During the biopsy, any blue or radioactive nodes are removed and checked for malignancy.

“If the sentinel nodes are cancer-free, it is highly likely the other nodes downstream will be clear, so these women are spared a more invasive procedure,” explains Dr. Grant.

Baugh-Swartz says only three nodes were removed during her sentinel node biopsy. “Fortunately, they were all negative,” she says. The more extensive lymph node biopsy, called axillary lymph node dissection, is performed if the sentinel nodes are positive.

Determination of stage and type of breast cancer is followed by consideration of treatment options, which should be discussed by patient and doctor. “I make sure that all my breast cancer patients thoroughly understand treatment recommendations before they leave my office,” says Dr. Vogel. “I ask them numerous questions to be sure they know their options.”

Baugh-Swartz found it very helpful to have someone else—her husband, a co-worker, or friend—attend treatment and follow-up appointments with her. “It was great moral support having another person take in the information with me.”

“I believe that second opinions are appropriate if a woman is not comfortable with a treatment recommendation for whatever reason,” says Dr. Vogel, who often gives second opinions. He has found that second opinions are sometimes sought when women have received distressing and sometimes incorrect information. “If you’re unsure, do not hesitate to see another oncologist, particularly if diagnosed with a rare situation.”