Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas

Fishbein L, Khare S, Wubbenhorst B, DeSloover D, D'Andrea K, Merrill S, Cho NW, Greenberg RA, Else T, Montone K, LiVolsi V, Fraker D, Daber R, Cohen DL, Nathanson KL. Nat Commun. 2015 Jan 21;6:6140. | doi: 10.1038/ncomms7140


A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors.  Now, for the first time, researchers at the Perelman School of Medicine at the University of Pennsylvania have found that the same mutated gene may serve as a much-needed biomarker for the pheochromocytomas and paragangliomas (PCC/PGL) that become malignant. These rare neuroendocrine tumors are typically benign, but when they go rogue, they become very aggressive. The study, "Whole-exome sequencing identifies somatic ‚ÄčATRX mutations in pheochromocytomas and paragangliomas," was published online ahead of print today in Nature Communications. Co-authors of the study include Drs. Kathleen Montone and Virginia LiVolsi.
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