The following patient is not real but her cancer is.
Rochelle couldn’t have been healthier or more content. She’d graduated from the University of Virginia summa cum laude. Her major was International Relations. Her father worked for the CIA in Langley, Virginia, as had two of her uncles: the Agency ran in the family. She was, quite naturally, following in the footsteps of her patriarchs. Alas, there were no jobs at the State Department where she longed to intern and, later, work. So, she decided to go into a “holding pattern” like so many millennials these days – planes stacked, trying to land at O’Hare – and enrolled in graduate school at American University in Washington, D.C. At least it was close to home.
She met a young pilot who flew jets in the Navy. “No job better than that,” he said. She agreed. They hit it off and were married at the Naval chapel in Annapolis two years later. A daughter was born the following year. Rochelle breast fed her for six months, no problem.
In 2016, Rochelle found a lump in her right breast. It felt small. Mostly, she thought it odd. She went to her gynecologist who could feel it, too. He reassured her as he wrote a prescription for a breast ultrasound, “It’s probably nothing. Happens all the time.”
The lump was about as tall as it was wide when the radiologist looked at its image on the screen. But it’s borders were irregular. That made it suspicious. The radiologist suggested a diagnostic mammogram, which barely showed a thing because, as a young woman, Rochelle’s breasts were very dense; that is, they were packed with normal breast tissue rather than fat. An MRI was then suggested, and Rochelle complied. It showed that the lump was suspicious. It measured about one-half inch in all directions.
A needle biopsy was done at the radiology center. The pathology confirmed its suspicious look: it was cancer. Unlike most young women who get breast cancer, Rochelle’s tumor expressed estrogen, progesterone, and Her2 receptors. This meant that anti-estrogen therapy and therapies that targeted the Her2 receptors on her tumor would likely prove useful in treating her case.
There was no history of breast cancer in the family. A maternal aunt had died of pancreatic cancer, but everyone else seemed to just die of old age. On the other hand, Rochelle was very young to be getting breast cancer, so she was tested for the presence of a genetic mutation … just in case.
Meanwhile, her husband was deployed on an aircraft carrier in the Gulf. At the time of her diagnosis his squadron was on leave in Bahrain. When she got through to him by phone, it was clear that he and his buddies were having a grand old time on leave in an Arabian paradise.
The conversation between them was more silence than spoken. He was reassuring and supportive. She was reassuring and supportive. He hung up in shock. So did she.
The genetic test showed that Rochelle had inherited a genetic mutation called ATM, but only from her mother’s side of the family. The mutation is known to be associated with an increased risk for cancer of the female breast and of the pancreas. Like the BRCA mutations, it consists of an abnormality of DNA repair.
The good news was that the tumor was small and there was no evidence of cancer anywhere else in her body. If Rochelle had not had the ATM mutation then she would have done perfectly well with a lumpectomy and radiation therapy. But because she did have an ATM mutation – which means that every cell in her body carried the mutation that impaired the repair of her DNA (including every cell in both her breasts) -she elected to have both breasts removed.
Her husband was offered leave to come home to be with her for the operation. Rochelle insisted that he finish his tour. Her family were close by and could take care of her just as well, she said. And she knew that it would have been far more stressful for both of them if he came home, saw her in such distress, stood by helplessly while she was mutilated and reconstructed, and then had to leave to return to duty before she was completely recovered, and well before any further steps in her treatment were undertaken.
Her oncologist recommended chemotherapy even though her tumor was small (1.5 centimeters) and her lymph nodes were free of tumor. The rationale was thus: She was very young. She had a genetic mutation. Her tumor was over 1.0 cm in size – the size at which chemotherapy confers a survival advantage to those that opt for it. The data from a convergence of published literature were clear that she had a better chance of living longer if she went with the chemotherapy.
Rochelle received 12 weeks of taxol and a drug that targeted the Her2 receptors. She did well. After her chemo was over she was given tamoxifen, an anti-estrogenic drug. She developed menopausal symptoms, but these were the least of her worries. She was concerned that she might die young, and leave her baby behind for some other woman in her husband’s life to care for. Even though she felt fine, she did not feel fine.
Her husband came home to a fully recovered and buxom wife. But, of course, she was different. The cancer had scarred her in ways that only those who were close to her could feel: she was quieter when in the midst of the boisterous family; she had less energy for doing the things that used to please her so much (like playing the piano); she was more easily frazzled at the endlessly small irregularities in life – traffic, tangled laundry, misplaced items around the house.
Two weeks ago, after a move to San Diego in July where her husband was recently assigned following his tour of duty, she developed pain in her left thigh. It didn’t go away. It began to wake her up at night. She thought she’d pulled a muscle moving and unpacking endless boxes piled high in the garage. (She was an expert Navy wife by now, and could pack up a house and move on a dime and make a mansion out of a matchbox wherever he was told to land next.) After about a week of this nagging pain in her leg, she went to the clinic. The medic, hearing that she’d been treated for breast cancer two years ago, ordered an xray. Rochelle was not in the mood for yet another xray, and she was not in the mood for something to be found wrong. She carried the prescription for the xray of her leg to the Radiology Clinic and held her breath.
The cancer that appeared in her breast two years ago is now growing in her femur. It is eating away at her bone, thus the pain. A further workup to look for evidence of cancer anywhere else in her body has turned up nothing so far. Other than that one spot in her femur, she has no other evidence of metastatic disease. This is referred to as “oligometastatic” disease (in case you ever hear that term thrown around), which means that it’s only in one place.
What will the doctors do?
They’ve recommended that she be given an even stronger anti-estrogenic medication.
Should she get chemo?
There’s really nothing in the pharmacy at this time that has proven to be of benefit in cases like hers.
If she can’t get chemo, is there anything else the doctors can do about the tumor in her bone?
Yes. She’s a good candidate for radiation therapy. This will only take about a week – 5 treatments, at most. And it will relieve the pain almost immediately.
Did anyone do a biopsy of the tumor in her bone? Are they sure that it’s a cancer, or does it just “look that way?”
Yes, they did a bone biopsy and, yes, it’s a tumor that has spread from the small cancer that she found in her breast two years ago.
What is her prognosis?
It’s hard to say. The fact that the cancer came back so soon is not a surprise: it often comes back quickly in young women, especially those that have a genetic mutation. But the cancer is “oligometastatic” – it’s just in one place. And the radiation will zap it nicely. It’s hard to say how she will do except to say that this has set her back a distance, emotionally as well as clinically.
It’s Breast Cancer Awareness Month. Rochelle and all 3.5 million survivors in this country are well aware of what that means: the sands in the hourglass are running out for at least 41,000 of them (the number of women expected to die of breast cancer this year.)
Rochelle’s doctors will keep an eye out for any clinical trials for which she might be a candidate. But her husband never stays in one place very long, so it might be out of the question for her to commit to a trial because he could get “orders” at any time.
A woman is diagnosed with breast cancer somewhere in the world every 15 seconds. Another one dies in less than a minute. We lose the “race” every time we lose a patient, and every time three more women get in line to take her place.
If you want to learn more about the breast cancer virus, use this link (bit.ly/HollandNIH) and fast-forward about 10 minutes (past the introductory remarks). Settle in for an excellent talk about the history of the human mammary tumor virus. Then tell me what you think.
Keep in mind, there’s no law that says that you can’t have many bad things happen to you at once, such as discovering that you have a genetic mutation, and breast cancer, and (possibly) an infection with a virus that’s known to cause cancer in mice and looks like it does the same in humans.