Adenoid cystic carcinoma (ACC) is a slow-growing and often fatal malignancy that can occur at multiple organ site, but is most frequently found in the salivary glands. The primary treatment is surgical removal; however, the majority of patients develop metastatic disease.
In this issue of the Journal of Clinical Investigation, researchers led by Andrew Futreal at the Wellcome Trust Sanger Institute in Cambridge, MA, performed a type of genetic sequencing known as whole exome sequencing of 24 ACC cases. They identified a genetic translocation that can precipitate disease and determined that a large number of disease-associated mutations occurred in genes that modify DNA.
In the accompanying commentary, Henry Frierson, Jr. of the University of Virginia emphasizes that identifying individual mutations will aid the development of personalized therapy.
Explore further: Inactive genes surprisingly common in humans
Whole exome sequencing of adenoid cystic carcinoma, J Clin Invest. doi:10.1172/JCI67201
Mutation signature of adenoid cystic carcinoma: evidence for transcriptional and epigenetic reprogramming, J. Clin. Invest. doi:10.1172/JCI69070