UCSD Researchers Establish Mutational Landscape of Appendiceal Cancer

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Original Post from GeneomeWeb

NEW YORK (GenomeWeb) – A team of researchers from the University of California, San Diego and Foundation Medicine has identified a set of genetic biomarkers that distinguish appendiceal neoplasms from similar acting colorectal cancer (CRC) cases.  

In a study published this week in JCO Precision Oncology, corresponding author and UCSD researcher John Paul Shen and his colleagues genomically profiled 703 appendiceal neoplasms — the largest such cohort to date — to compare the mutation profiles of appendiceal cancer subtypes to CRC and other cancers.

Appendiceal neoplasms are rare, and therefore difficult to study, the authors wrote. The small number of appendiceal tumors that are detected are found in many cases as an incidental finding in about 1 percent of appendectomy specimens. They usually comprise multiple histopathologic subtypes.

Early-stage cancers can be treated with surgery, but there is no standard of care for the systemic treatment of advanced, unresectable disease, the researchers said. As there is an absence of randomized phase III data, medical oncologists tend to use CRC chemotherapy regimens to treat unresectable epithelial appendiceal neoplasms. In fact, the National Comprehensive Cancer Network guidelines currently recommend such treatment.

However, the authors found, “there is also a growing body of

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