Pathologists: Expanding Our Understanding of Disease

A tissue sample taken in the past--even decades earlier--can reveal new and important information for the patient and his or her relatives. In some patients, tumor samples that were archived years before have been studied by the Saint Barnabas Medical Center Department of Pathology and reviewed in light of newer diagnostic technology.

“It is impressive how new immunologic and molecular techniques allow the pathologist to use stored tissue samples and do remarkable things many years after the original sample was taken,” says Robert R. Rickert, M.D., Chairman of the Department of Pathology.

As just one example, the Department of Pathology recently reexamined a tumor sample from more than five years earlier that was originally studied at a world renowned pathology reference center. The tumor had recently recurred at a new site and was now able to be studied and classified using previously unavailable technology. Having an opportunity to review the previous material from years earlier permitted a comparison that established with confidence that the “new” tumor was indeed a recurrence.

It is noteworthy that the original reviewing pathologist had described the unusual features of the tumor even though that particular tumor had yet to be classified as a specific entity.

“He was providing this information years before the tumor was described and we were able to confirm it through more recently available immunologic methods of testing,” adds Dr. Rickert.

This was especially important for that patient since specific drug therapy is now available for that specific tumor.

More Information Helps Patients and Relatives
When it comes to tumor testing, more knowledge is always better. Information about cancer genetics is rapidly expanding, with implications for all aspects of cancer management, including prevention, screening and treatment. For example, if a patient is found to be positive for a predisposing genetic mutation, the patient’s family members who may be at high risk may also benefit from early screening.

People who test positive for a predisposing genetic mutation may have an increased susceptibility to certain types of cancer. Tumors tend to develop at an earlier age in those who test positive, with an increased likelihood of having multiple tumors as well. Since most tumors are unlikely to produce symptoms in early stages, screening of persons at increased risk is important, reports Dr. Rickert.

For example, concern for familial risk of cancer of the large bowel can now be raised based on molecular pathology evaluations. This is particularly true for the syndrome of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) that is caused by specific gene mutations and often associated with the phenomenon of microsatellite instability (MSI). The Diagnostic Molecular Pathology section of the Department of Pathology at Saint Barnabas Medical Center is approved by the State of New Jersey to perform MSI testing.

The Saint Barnabas Department of Pathology recently identified unusual features in a colon cancer tissue sample of a patient that suggested the possibility of an MSI positive tumor. This was confirmed by the laboratory. The patient’s daughter then underwent her first colonoscopy screening even though she was only in her 30s, years before she might otherwise have been a candidate for screening. Happily, the results were negative. It is hoped that this kind of intervention translates into early detection and more effective treatment for future generations.

Pathology on the Cutting Edge of Diagnosis
While many patients think that pathologists, as portrayed in modern entertainment media, are mainly involved in autopsies and forensic science, pathologists actually serve as vital medical consultants to the patient’s treating physician. Pathology has often been called the “hidden specialty.”

“The diagnosis of most every disease process relies to some extent on laboratory testing that often requires evaluation of blood and other body fluid, or tissue and cell sampling,” says Dr. Rickert. “Pathologists are specialized physicians who oversee and conduct the performance of a vast array of laboratory and tissue evaluations and tests and are directly involved with the patient’s diagnosis. Our responsibility is to make important medical interpretations that significantly impact patient care.”

The field of pathology is an ever advancing science. Better testing for a variety of cancers, as well as enhanced molecular diagnostic and immunologic techniques and surgical pathology and tissue evaluations, put pathologists at the forefront of medical diagnosis. The pathologist uses information gathered from the microscopic examination of tissue specimens, cells, and body fluids, and from highly sophisticated clinical laboratory tests for establishing cancer diagnosis.

Pathologists and Cancer
With cancer patients, pathologists help the medical and surgical oncologists both with accurate diagnosis and accurate staging of tumors. Oncologists need to know exactly where the cancer is located, its primary or secondary sites, how fast or slow it may be growing, the size and number of tumors, cell type and tumor grade, and any lymph node involvement or more distinct metastases.

Dr. Rickert says that Saint Barnabas pathologists use very specific criteria to stage tumors, which affect both medical and surgical management. Medical Center pathologists are an integral part of a multidisciplinary team of specialists that meets regularly with surgeons, medical oncologists, radiation oncologists and other team members to discuss specific patient cases.

The College of American Pathologists has developed a series of protocols that outline specific information to be recorded in diagnostic reports of cancers from virtually all organ systems and tissue sites. The use of these pathology protocols is now mandated by the Commission on Cancer of the American College of Surgeons for approval of an institution’s cancer program. The Saint Barnabas Medical Center has such an approved program.

“It is essential for physicians to have an accurate means of staging cancer,” says Richard Michaelson, M.D., Medical Director of The Cancer Center of Saint Barnabas. “Our pathologists use a variety of the most sophisticated diagnostic tools for staging.”

For the most accurate staging, pathologists may also conduct laboratory tests of blood, urine and other fluids, as well as surgical biopsies. They search for tumor markers, which may indicate that a certain type of cancer is in the body. Examples of tumor markers include CA 125 (ovarian cancer), CA 15-3 (breast cancer), CEA (ovarian, lung, breast, pancreas, and gastrointestinal tract cancers), and PSA (prostate cancer).

At the heart of a diagnosis for any disease, pathologists help to recognize the patterns that a disease takes, enabling a more accurate assessment.

According to the American Society for Clinical Pathology, "Pathologists are problem-solvers, fascinated by the process of disease and eager to unlock medical mysteries, using the tools of laboratory medicine and its sophisticated instruments and methods.”