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A new study led by BWH researchers promises to change the way cancer is treated and understood. This study marks the first time that researchers have used new technology to identify the unique genetic mutations of a cancerous tumor for an individual patient.
“Patients suffering from cancer should see this as a major step toward advancing treatment,” said David Sugarbaker, MD, chief of the Division of Thoracic Surgery, lead author of the study and a pioneer in mesothelioma research.
The study, published in the Feb. 25 Proceedings of the National Academy of Sciences, showed that new DNA sequencing systems can identify the unique set of abnormalities in tumors from individual patients.
“We found that each tumor had its own unique genetic mutation, sort of like its own fingerprint,” Sugarbaker said.
The researchers obtained the genetic sequences of all the expressed genes in tumors from four patients with mesothelioma, a lung cancer caused by asbestos. The researchers found three to four novel genetic mutations in each tumor, none of which had been implicated in cancer in previous studies. Each tumor had a unique mutation profile, similar to having a unique fingerprint.
“This step forward is akin to mainframe computers giving way to the desktop PC revolution,” said Sugarbaker. “Ultimately, every patient’s tumor will be directly sequenced to determine its mutations and optimal treatment just as we now identify the cause of an infection before selecting the best antibiotic to treat it.”
Raphael Bueno, MD, associate chief of Thoracic Surgery and senior author of the study, said, “We will be able to find different combinations of drugs that will be most effective for each individual patient. All the treatments are not out there, but many are and it may be a matter of creating unique combinations for patients.”
The group developed new methods to preserve and select the optimal tissue from newly harvested tumors, and software tools to manage the billions of DNA sequence data points and discover the important cancer-causing genetic changes. This newly developed pipeline could be used to identify the genetic mutations in a given patient within a relatively short time frame, from several weeks to just a few months.
“One truly encouraging aspect of our findings is after spending a year and a half to develop the methodology and software for the pipeline, new tumors can be analyzed over the course of about a month,” Sugarbaker said. “Knowing which genes are mutated opens the door to better understanding and the discovery of more targeted and effective patient-specific treatments in real time.”
The research team, part of the cancer group in the Biomedical Research Institute at BWH, has made its data available at www.impmeso.org
“We want to cure this cancer,” Bueno said. “If other scientists around the world have ideas on how to use this data to do so, we are happy to share our work with them.”