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Genetic Blueprint For Rare, Aggressive Cancerous Tumors of The Appendix Found

Update Date: May 13, 2014 12:10 PM EDT

Researchers, using next generation DNA sequencing, have identified potentially actionable mutations in cancers of the appendix. The findings can help treat patients with chemotherapy or other targeted agents that work on those mutations. 

Not much is known about the molecular biology of two types of appendix tumors, but both lead to pseudomyxoma peritonea (PMP) - a critical condition in which cancerous cells grow uncontrollably along the wall of the abdomen and can crush digestive organs. 

Researchers considered around 38 specimens of LAMN and adenocarcinoma tumors from their archives. They looked for shared genetic errors that might be responsible for the abnormal cell growth. 

The study is first to make use of a multigene panel in appendiceal cancers to support the use of potential targeted therapies.

"We routinely use this molecular profiling approach on all of our lung adenocarcinomas, melanomas, colon cancers, and gliomas," said Gregory Tsongalis, PhD, principal investigator for the study and director of Molecular Pathology at Dartmouth-Hitchcock Norris Cotton Cancer Center, in the press release.

"These findings suggest that tumors of the appendix, although rare and very aggressive, are distinct entities and have subclasses of disease within each category that are different from each other based on their mutation profile," said Tsongalis. "New therapeutic approaches may be able to target those pathways that are mutated in these tumor types."

Researchers said the findings of the study have the potential to change clinical practice if physicians now develop treatment plans to target the identified genetic mutations. 

 "Our success in the Dartmouth-Hitchcock Medical Center Department of Pathology at the Norris Cotton Cancer Center is attributed to our multidisciplinary approach to these discoveries, which truly allow us to bring scientific findings from the bench to the bedside," added Tsongalis in the press release.

The study has been published in the journal Clinical Chemistry.

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