Unlocking Sarcoma’s Secrets: Sylvester’s Role in Global Research
Summary
- Sylvester is one of only 20 institutions worldwide contributing data to GENIE, a registry of data from tens of thousands of cancer patients.
- Sarcoma is a rare condition, and Sylvester is internationally recognized for its expertise in treating this type of cancer.
- The data aggregated in GENIE helps guide personalized sarcoma care for patients and helps researchers discover potential new treatments.
Only 20 medical schools and cancer treatment centers contribute to the gold-standard Genomics Evidence Neoplasia Information Exchange, known as GENIE. Sylvester Comprehensive Cancer Center, part of the University of Miami Miller School of Medicine, is one of those institutions, and the only one in Florida.
GENIE is a publicly accessible registry developed by the American Association for Cancer Research, the world’s largest cancer research organization. It brings together vast troves of data, from advanced cancer genomic sequencing to clinical patient outcomes. Scientists and clinicians around the world use it to conduct research and suggest paths for patient care.
The World’s “Most Vital Cancer Consortium”
Along with Sylvester, GENIE contributors include Memorial Sloan Kettering Cancer Center, Johns Hopkins University, Dana-Farber Cancer Institute, Yale, MD Anderson Cancer Center, the University of Chicago and Columbia University. International contributors include Cambridge University and leading cancer institutes in Europe and Asia.
“We’re proud to be active, contributing members to the world’s most vital cancer consortium,” said Jonathan Trent, Ph.D., director of Sylvester’s sarcoma medical research program. Dr. Trent is also a professor in the Division of Medical Oncology at the Miller School. “Our involvement with GENIE strengthens the culture of hope we’ve created for sarcoma patients, both local patients and those who come to us from throughout the country for care.”
To be a GENIE member, an institution must:
• Engage in extensive genomic sequencing
• Maintain a strong bioinformatics infrastructure
• Have broad experience with data sharing
• Be able to contribute at least 500 anonymized, comprehensive patient records to the registry each year
Surfacing Sarcoma Insights Through GENIE
GENIE functions as a sophisticated cancer search engine, compiling tens of thousands of patient data points, including tumor type, genetic information, diagnoses, treatments and outcomes. This allows doctors and researchers to detect patterns no single hospital or health system could identify on its own.
This is particularly important for sarcomas, cancers of the bones and soft tissue that account for only about 1% of adult cancers. While Sylvester treats more than 900 sarcoma patients annually, many institutions see only a few dozen cases a year.
Sarcoma can appear virtually anywhere on the body and includes more than 175 different subtypes of soft tissue sarcoma, as well as eight different bone subtypes. Five-year survival rates range from about 15% to more than 80%.
Sylvester’s sarcoma data contributions, pooled with records from other GENIE members, provide the robust volume and breadth of data needed to obtain meaningful insights into the disease. This comprehensive dataset enables clinicians worldwide to access evidence-based guidance for individualized patient care, even in settings where sarcoma cases are infrequent.
Furthermore, the scale and diversity of the registry provide researchers with sufficient case numbers to conduct statistically robust studies, advancing the reliability and impact of sarcoma research.
“I’ve been waiting my whole career for this kind of advancement in technology,” said sarcoma medical oncologist Gina D’Amato, M.D., professor in the Miller School’s Division of Medical Oncology and assistant director of clinical research at Sylvester. “This type of data collection can lead to gene libraries through which we will be able to select treatments based on responses from other patients with similar gene signatures. In addition, gene signatures may capture genes responsible for tolerability enzymes, which can help us better manage potential side effects of treatment.”
Sylvester’s Sarcoma Research
Between patient treatment and clinical research, Sylvester has built a significant reservoir of knowledge about sarcoma. Its researchers are internationally recognized, and its reputation continues to draw top talent from around the world. For example, Emanuela Palmerini, M.D., Ph.D., one of Europe’s most respected sarcoma specialists, recently joined Sylvester as clinical professor in the Miller School’s Division of Medical Oncology.
Sylvester’s sarcoma research group has an unusually high number of phase 1 clinical trials, the first step in testing new cancer therapies. While many large institutions have none at a given time, Sylvester currently has 11 underway and often has as many as 20.
For patients, these early-stage trials can be critical. Although designed primarily to assess safety and dosage of treatment, they sometimes show early signs of benefit that influence later phases of testing.
Patients also benefit from the large number of physicians and researchers treating sarcoma. More than two dozen cross-disciplinary specialists meet daily to discuss cases.
The sarcoma team also plays a crucial role in education. Dr. Trent and Andrew Rosenberg, M.D., clinical professor in the Miller School’s Division of Pathology and Laboratory Medicine and co-chief of anatomic pathology, co-authored the text, “Sarcomas: Evidence-Based Diagnosis and Management” with two colleagues from other institutions. It is widely regarded as the definitive reference for sarcoma care.
Precision Medicine, Immunotherapy, AI and Sarcoma
Research by Sylvester and other institutions has illuminated several avenues for advancing sarcoma care. One of the most important is precision medicine, which GENIE already supports. As researchers comb its massive database, they are uncovering mutations that trigger sarcoma.
“These genetic errors can become targets for existing, repurposed and new drugs,” Dr. Trent said.
Another treatment avenue is immunotherapy, which trains the body’s immune system to target and destroy cancer cells. While most effective so far in leukemia and other blood cancers, researchers aim to extend it to sarcomas.
Epigenetics is another emerging area for treatment. Pathways under investigation seek to activate and deactivate cancer-sensitive or cancer-fighting genes without altering DNA. For example, one investigative treatment cuts off the energy supply, such as sugars, that a sarcoma relies on to grow.
Artificial intelligence is also expected to help. AI can’t replace doctors, but it can serve as a second set of eyes, identifying subtle patterns and suggesting treatments.
Finally, targeted therapies aim to deliver cancer-fighting power exactly where it’s needed. One promising type uses nanoparticles — microscopic drug-delivery systems to deliver chemotherapy directly to tumors. Another uses radioactive compounds that attach directly to tumors to destroy them.
Dr. Trent emphasizes that Sylvester’s progress is fueled by more than science.
“We’ve established a culture of hope and optimism at Sylvester,” he said. “We approach every case with the belief that we will succeed. That mindset drives us to find new ways of delivering safe, superior care to every patient.”
Rochelle Broder-Singer contributed to this story.
Tags: AI, artificial intelligence, cancer epigenetics, cancer research, Department of Pathology and Laboratory Medicine, Division of Medical Oncology, Dr. Andrew Rosenberg, Dr. Emanuela Palmerini, Dr. Gina D'Amato, Dr. Jonathan Trent, epigenetics, immunotherapy, Newsroom, pathology, precision medicine, sarcoma, Sylvester Comprehensive Cancer Center