Monica Long had expected a routine appointment. But here she was sitting in her new oncologist's office, and he was delivering disturbing news.
Nearly a year earlier, in 2007, a pathologist at a small hospital in Cheboygan, Mich., had found the earliest stage of breast cancer from a biopsy. Extensive surgery followed, leaving Long's right breast missing a golf-ball-size chunk.
Now she was being told the pathologist had made a mistake. Her new doctor was certain she never had the disease, called ductal carcinoma in situ, or DCIS. It had all been unnecessary—the surgery, the radiation, the drugs and, worst of all, the fear.
"Psychologically, it's horrible," Long said. "I never should have had to go through what I did."
Like most women, Long had regarded the breast biopsy as the gold standard, an infallible way to identify cancer.
"I thought it was pretty cut and dried," said Long, who is a registered nurse.
As it turns out, diagnosing the earliest stage of breast cancer can be surprisingly difficult, prone to both outright error and case-by-case disagreement over whether a cluster of cells is benign or malignant, according to a New York Times examination of breast cancer cases.
Advances in mammography and other imaging technology over the past 30 years have meant that pathologists must render opinions on ever smaller breast lesions, some the size of a few grains of salt. Discerning the difference between some benign lesions and early stage breast cancer is a particularly challenging area of pathology, according to medical records and interviews with doctors and patients.
Diagnosing DCIS "is a 30-year history of confusion, differences of opinion and under- and overtreatment," said Dr. Shahla Masood, the head of pathology at the University of Florida College of Medicine in Jacksonville. "There are studies that show that diagnosing these borderline breast lesions occasionally comes down to the flip of a coin."
There is an increasing recognition of the problems, and the federal government is now financing a nationwide study of variations in breast pathology, based on concerns that 17 percent of DCIS cases identified by a commonly used needle biopsy may be misdiagnosed. Despite this, there are no mandated diagnostic standards or requirements that pathologists performing the work have any specialized expertise, meaning that the chances of getting an accurate diagnosis vary from hospital to hospital.
Dr. Linh Vi, the pathologist at Cheboygan Memorial Hospital who diagnosed DCIS in Long, was not board-certified and has said he reads about 50 breast biopsies a year, far short of the experience that leading pathologists say is needed to deal with the nuances of difficult breast cancer cases. In responding to a lawsuit brought by Long, Vi maintains that Long had cancer and that two board-certified pathologists at a neighboring hospital concurred with his diagnosis.
Yet several leading experts who reviewed Long's case disagreed, with one saying flatly that her local pathologists "blew the diagnosis."
The questions that often surround DCIS diagnoses take on added significance when combined with criticism that it is both overdiagnosed and overtreated in the United States—concerns that helped fuel the recent controversy over the routine use of mammograms for women in their 40s.
The U.S. Preventive Services Task Force, an independent panel that issues guidelines on cancer screening, found in November that the downside of routine annual mammograms for younger women might offset the benefits of early detection. The panel specifically referred to overdiagnosis of DCIS, as well as benign but atypical breast lesions that left undetected would never cause problems.
DCIS, which is also called Stage 0 or noninvasive cancer, was a rare diagnosis before mammograms began to be widely used in the 1980s. Until then, breast pathology typically involved reading tissue from palpable lumps. The diagnoses—usually invasive cancer, a benign fibroid tumor or a cyst—were often obvious.
Today, DCIS is diagnosed in more than 50,000 women a year in this country alone. The abnormal cells, which are encased in breast ducts, are removed before they develop into invasive cancer. There are estimates that if left untreated, the condition will turn into invasive cancer 30 percent of the time, though it could take decades in some cases.
Concerned about the accuracy of breast pathology, the College of American Pathologists said it would start a voluntary certification program for pathologists who read breast tissue. Among its requirements is that the pathologists must read 250 breast cases a year.
"There's no question there's a problem, and that's why we're starting this certificate program," said Dr. James L. Connolly, director of anatomic pathology at Beth Israel Deaconess Medical Center in Boston.
Although the program has not started yet, it is controversial.
With hundreds of thousands of breast biopsies performed a year, some pathologists stand to lose business, Connolly said, if doctors and patients demand that their slides go to a certified pathologist.
Dr. Dennis Citrin, the oncologist at Midwestern Regional Medical Center in Zion, Ill., who told Long that she did not have DCIS, said efforts to identify cancer at its earliest stages could benefit patients but also create problems.
"We're now trying to move the goal post if you like," Citrin said. "We're trying to make a diagnosis at an earlier and earlier stage. There are going to be patients where there's confusion or difference of opinion in this spectrum of changes, the earlier that you move in the process. So that's why there are cases like Monica's."
In 2006, Susan G. Komen for the Cure, an influential breast cancer survivors' organization, released a startling study. It estimated that in 90,000 cases, women who receive a diagnosis of DCIS or invasive breast cancer either did not have the disease or their pathologist made another error that resulted in incorrect treatment.
After the Komen report, the College of American Pathologists announced several steps to improve breast cancer diagnosis, including the certification program for pathologists.
For the medical community, the Komen findings were not surprising, since the risk of misdiagnosis had been widely written about in medical literature. One study in 2002, by doctors at Northwestern University Medical Center, reviewed the pathology in 340 breast cancer cases and found that 7.8 percent of them had errors serious enough to change plans for surgery.
Yet some pathologists have found the response to these types of studies slow and inadequate.
To diagnose a breast cancer, pathologists look at slides mounted with thin slices of breast tissue. The slides are stained with a purplish dye that highlights patterns of circles and dots, each representing a cell, its nucleus and membrane. The diagnosis turns on the appearance of these cells under a microscope.
At larger hospitals, the findings are often presented to a tumor board, in which a team of doctors from various disciplines reviews the pathology report and develops a treatment plan.
A number of pathology practices also specialize in rendering second opinions.
Dr. Michael Lagios, a pathologist at St. Mary's Medical Center in San Francisco, reviews slides for women who want a second opinion. And what he finds concerns him.
In 2007 and 2008, he reviewed 597 breast cases and found discrepancies in 141 of them, including 27 cases where DCIS was misdiagnosed. Lagios says that based on his experience, microscopic core needle biopsies of low-grade DCIS and benign lesions, called atypical ductal hyperplasia, or ADH, may be misread 20 percent of the time.
Beyond diagnostic errors, there are different schools of thought about what constitutes DCIS. Variations in diagnoses may depend partly on where a woman is treated.
In San Francisco, Lagios uses a criterion that says some breast lesions under two millimeters are not DCIS, even if they have the other markers of the condition.
At Beth Israel Deaconess Medical Center in Boston, also renowned for its breast pathology services, those lesions are considered DCIS, according to Connolly.
Lagios says he frequently talks to patients who are struggling to make sense of several different opinions.
"This leaves the woman totally confused," he said.
Fear compounds the confusion, and even though DCIS is 90 percent curable, there is growing concern that women and their doctors opt for more aggressive surgery, radiation and drug therapy than is needed.
A mastectomy is sometimes offered as an option for DCIS, although experts say it is usually not advisable unless the DCIS is large or appears in several sites in the breast.
Yet more women who are faced with the diagnosis of DCIS become so fearful that they elect to have both breasts removed, often against their doctor's recommendations.
Among women who had surgery for DCIS, the rate of double mastectomy rose to 5 percent in 2005, from 2 percent in 1998, according to a study last year.
Dr. Ira J. Bleiweiss, chief of surgical pathology at Mount Sinai Medical Center in New York, said that ideally, all breast cancer diagnoses would be referred for a second opinion. He warns patients and their doctors: "Don't rush to the operating room."
Since her surgery, Long has struggled with a range of emotions -- relief, anger and guilt.
As a nurse in a cancer hospital, she encounters many people who are caught in the disease's maw. Long says they provide constant reminders of how fortunate she is.
Yet, there is another reminder every time she takes a shower -- the disfiguring results of her surgery.
"I think you could handle the disfigurement a little bit more if there's a real purpose for it," Long said. "The tough part is to find out later that I didn't need it, and I never did."
Shayla Harris contributed reporting.Copyright © 2015, The Baltimore Sun