BIRMINGHAM, AL – Internal medicine resident, Dr. Cynthia Talbot, was surprised to receive a call from pathology about her patient. It had only been three months since she had requested an autopsy, surely they didn’t have the final report ready so soon. As it turns out, their issue was even more confusing: “We need more tissue.”
Dr. Talbot’s patient was an unusual case. A lifelong smoker, who previously worked in a textile factory next to a nuclear power plant, and had not seen a physician in over thirty years. Despite excruciating lower back pain, progressive paralysis, and urinary retention, he continued to refuse medical care.
By the time he sought medical attention, he had developed uroseptic shock. Imaging showed several large masses compressing his spinal cord, presumed to be metastatic disease, but a primary tumor could not be identified. Despite exhaustive efforts, his disease progressed, and he died shortly after admission. At the request of his family, Dr. Talbot ordered an autopsy to determine the source of his disease.
Though the spinal masses were easily found, postmortem degenerative changes had rendered the histology useless. “It’s a common problem in autopsy cases,” says pathologist Dr. Jeffery Nichols. “The tissues start to die, and as a result the histology is obscured, and ancillary studies are unreliable.”
In the case of Dr. Talbot’s patient, circumstances delayed the autopsy, likely compounding the problem. “The delays were unavoidable,” said Dr. Nichols. “The patient died on a Wednesday afternoon, and it took most of Thursday to sort out the paperwork. I was on vacation on Friday, and I don’t work on the weekends. Monday was a holiday, of course, and on Tuesday, I just plain forgot about it. That was my bad. But we started the autopsy first thing Wednesday morning at 1030. Unfortunately, by then a week had gone by, and there wasn’t much we could do.”
Despite a full workup, in the end no definitive diagnosis could be made. “It was a poorly differentiated spindle-cell neoplasm, but that’s as far as I could go with it,” says Dr. Nichols. “I couldn’t identify the source of the metastases.” But then, he had a revelation. “There are rare mesenchymal tumors with a hereditary etiology. Perhaps one of his family members has an occult malignancy that holds the answer.”
Dr. Talbot explains the pathologist’s request. “He asked for random biopsies of all first- and second-degree relatives. It didn’t make sense at first, but when he explained his logic, it was irrefutable. I mean, the family wanted answers as badly as we did. We should try to get them involved.”
In all, thirteen family members received a total of eighty-four biopsies. Though the results are still pending seven months later, Dr. Nichols is optimistic. “I’m confident the answer is here if we look hard enough. If not, we will extend our search to his neighbors, coworkers, and pets. There is always more tissue to be obtained, but only if the clinicians are truly interested in a definitive diagnosis.”