Researchers discover several key mutations in pancreatic neuroendocrine tumors

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Through a grant provided by the Caring for Carcinoid Foundation (www.caringforcarcinoid.org), researchers at the Johns Hopkins Sidney Kimmel Comprehensive Cancer Center have discovered several key mutations in pancreatic neuroendocrine tumors. This significant finding holds the promise of improving patient diagnosis and treatment and brings the neuroendocrine cancer community closer to a cure. Neuroendocrine cancers affect approximately 100,000 patients in the United States, including, according to published reports, Steve Jobs, CEO of Apple Inc.

Dr. Nickolas Papadopoulos, Ph.D., associate professor at Johns Hopkins Kimmel Cancer Center and lead researcher on this project recognized the support of the Caring for Carcinoid Foundation.  "We are very grateful to the Foundation for funding this research. Without their visionary support, this project would not have been possible. We look forward to continuing our work to advance treatment options for neuroendocrine cancer patients," says Dr. Papadopoulos.

Papadopoulos and his team uncovered the set of genetic alterations present among patients with non-functional pancreatic neuroendocrine tumors.  They also uncovered a prognostic set of mutations and a rapid way of prioritizing patients for treatments with mTOR inhibiting drugs.

Papadopoulos says, "One of the most significant things we have learned is that each patient with this form of pancreatic cancer has a unique genetic code that predicts how aggressive the disease is and how sensitive it is to specific treatments."  Dr. Papadopoulos and his team found that in patients with non-functional pancreatic neuroendocrine tumors, those with specific mutations lived at least 10 years from diagnosis, while more than 60% of patients without these mutations died within five years of diagnosis.

These findings, published online in Science Express on January 20, 2011, suggest new approaches for treating patients with pancreatic neuroendocrine tumors. With few treatment options currently available for pancreatic neuroendocrine tumor patients, these findings represent important advances toward improving treatment options for these patients.

Of these breakthroughs, CFCF Founder and metastatic carcinoid cancer survivor Nancy Lindholm says, "This research finding represents a monumental leap forward in understanding the underlying mechanism of neuroendocrine cancer. Thanks to the phenomenal work of Dr. Papadopoulos and his team, we are one step closer to a cure. I am grateful to the commitment and dedication of the Caring for Carcinoid Foundation community for supporting researchers like Dr. Papadopoulos and making these insights possible. I hope this news brings reviewed optimism and courage to everyone living with carcinoid, pancreatic neuroendocrine, and related neuroendocrine cancers."

The significant findings of Papadopoulos and his team lays the framework for further genomic and drug pathway studies, and visibly demonstrates the progress that is possible through funded research of rare cancers.  

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