Mayo Clinic researchers complete world's first whole exome sequence of small intestine carcinoids

Researchers at Mayo Clinic have completed the world's first whole exome sequence of small intestine neuroendocrine tumors, also known to patients and physicians as carcinoids, the most common cancer of the small bowel and one that responds poorly to chemotherapy. Sequence analysis revealed six pathways as potential drug targets for this type of cancer.

"This is a very important step in achieving targeted therapies and individualized treatment approaches for patients with small bowel carcinoids," says Michaela Banck, M.D., a Mayo oncologist and lead author of a new study in the June edition of the Journal of Clinical Investigation. "Genomic analysis of the individual patient's tumors will help us identify new drugs that are targeted to the individual's disease."

The study revealed genomic alterations that might be susceptible to chemotherapy in the majority of patients (72 percent). Accordingly, an implied therapeutic road map for small intestine carcinoids might feature many related, but distinct, paths defined by individualized approaches and pharmacogenomics.

Dr. Banck's team, including Mayo oncologist and senior author Andreas Beutler, M.D., sequenced the genes of small intestine neuroendocrine tumors from 48 patients, along with the normal (or germline) tissue of those same 48 patients. Comparative analysis of the 96 whole exome sequences revealed that small intestine neuroendocrine tumors carry low numbers of point mutations and characteristic recurrent patterns of gene duplications and losses.