Avoiding Cancer Misdiagnosis

Woman looking through microscope

I recently learned of an unfortunate situation in which a woman was given a diagnosis of cancer by two different hospitals, only to find out after receiving 20 rounds of chemotherapy that her breast condition was non-cancerous. From a needle biopsy, she had been originally diagnosed with metaplastic breast cancer, a rare and aggressive form of breast cancer. However, following complete removal of the breast mass at a third hospital, she was found to have epithelioid myelofibroblastoma, an unusual, but fortunately benign condition that is even less familiar to most pathologists.

While I am relieved that the patient did not actually have metaplastic breast cancer, I am saddened by the fact that she was needlessly exposed to the physical risks of chemotherapy and to the emotion distress of a cancer diagnosis and misdiagnosis. I am also concerned that this case may undermine the confidence that patients place in physicians that are genuinely trying to offer the best possible care.

Is this a case of misdiagnosis, malpractice, or both? If we assume that the third diagnosis was actually correct, I would conclude that this is a regrettable case of misdiagnosis on the part of the first and second hospitals. It would be comforting to think that pathology diagnoses are always “black and white”. Something either is cancer or it isn’t, which is indeed the case for the most common types of breast conditions. However, a number “gray areas” remain. Accurately diagnosing the “gray area” requires experience, problem solving (e.g., does the pathology diagnosis fit the signs and/or symptoms), and a willingness to seek advice from colleagues who might be more familiar with an uncommon condition. To increase awareness among surgeons of uncommon types of breast cancers, I have been invited to present a joint lecture with Dr. Alicia Terando on “Rare Breast Cancers” at the annual meeting of the American Society of Breast Surgeons in Orlando, FL, April 29-May 3, 2015.

An important lesson from this case is that both patients and doctors must maintain a healthy degree of skepticism to seek out second or even third opinions when dealing with unfamiliar or uncommon diagnoses, especially when pieces of the puzzle don’t seem to fit. In many hospitals, pathologists routinely seek the advice of their colleagues on difficult cases. However, even these second opinions are subject to confirmation bias when colleagues give more credence to shared beliefs while disregarding findings that don’t fit the diagnosis as well.

My preferred solution is to seek a consulting opinion from an independent pathologist from another institution, especially if that pathologist specializes in breast pathology. In my own practice, I routinely request independent reviews of pathology results originating at outside hospitals. I also regularly request independent review of pathology results originating from my own hospitals. This is the best strategy to avoid over-diagnosis or under-diagnosis of a breast problem.

Another question that arose in this case is whether or not the second hospital should have requested a repeat biopsy. This is not usually necessary. The first decision that the second hospital had to make was whether or not, in its judgment, there were sufficient biopsy samples or test results to render a confident opinion. If the sample was considered adequate, or if there was sufficient sample to permit reanalysis, then no additional biopsies would seem necessary. However, if the results were considered inadequate or if a critical decision rested on the results, then repeat biopsy with a larger needle (for a larger sample) or open surgical biopsy of the mass would have been appropriate.

One may reasonably ask whether or not the treating physicians should have relied on the needle biopsy alone to make the diagnosis and administer chemotherapy. For breast cancer, the standard of care is to always begin with a needle biopsy. The purpose of this is to avoid unnecessary surgery in the majority of women who will be diagnosed with clearly benign findings that do not require surgical removal. Indeed, only a minority of women will have a finding that warrants surgery.

For biopsies that yield a cancer diagnosis, knowledge of the biopsy results before any treatment is initiated allows surgery and chemotherapy to be planned and sequenced appropriately. In many instances, giving chemo prior to surgery reduces the extent of surgery and improves long-term outcomes. However, giving chemotherapy before surgery requires that we have a clear diagnosis from the needle biopsy. In the case of this woman’s misdiagnosis, the report by the second hospital that there were unusual or “atypical” features in the needle biopsy sample should have been a trigger to obtain more information from the biopsy sample by either repeating the needle biopsy or removing the lump prior to initiating chemotherapy.

Even in the best of hands, there are some breast conditions that cannot be distinguished from cancer by needle biopsy alone. We call these lesions “borderline” lesions because when detected on a needle biopsy, they may exhibit features of both cancerous and non-cancerous tissues. By their very nature, these lesions are in that “gray area”. The challenge of borderline lesions was raised in a recent New York Times article, “Breast Biopsies Leave Room for Doubt” (April 10th, 2014). Just one month earlier, expert breast pathologist, Dr. Julio Ibarra and I, presented a joint lecture on the management of “borderline” breast lesions at the National Consortium of Breast Centers Conference in Las Vegas. Our recommendation: needle biopsy should always be the first step, but open surgical biopsy is recommended after needle biopsy to clearly establish the diagnosis of “borderline” lesions.

Regardless of how the biopsy is performed, interpreting breast biopsy findings can sometimes be quite difficult and may require the input of multiple specialists: pathologists, radiologists, and surgeons. Dedicated breast surgeons have the most experience coordinating these consultations for patients with difficult diagnoses. If you or someone you know is uncertain of a diagnosis that has been given, get a second opinion, or a third, and seek the assistance of a dedicated breast surgeon to help you make sense of it all.

Dennis R. Holmes, M.D.

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