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.
TITLE: Whole exome sequencing of adenoid cystic carcinoma
AUTHOR CONTACT:
P. Andrew Futreal
Wellcome Trust Sanger Institute, Cambridge, GBR
Phone: 7137944764; E-mail: AFutreal@mdanderson.org
View this article at: http://www.jci.org/articles/view/67201?key=d9e8a757b7c521272b6f
ACCOMPANYING COMMENTARY
TITLE: Mutation signature of adenoid cystic carcinoma: evidence for transcriptional and epigenetic reprogramming
AUTHOR CONTACT:
Henry Frierson
University of Virginia, Charlottesville, VA, USA
Phone: (434) 924-9171; E-mail: hff@Virginia.edu
View this article at: http://www.jci.org/articles/view/69070?key=b1da65c50c2dc7a2e200
Journal
Journal of Clinical Investigation