title: Mutation signature of adenoid cystic carcinoma: evidence for transcriptional and epigenetic reprogramming.
abstract: Adenoid cystic carcinoma (ACC), a relatively rare malignancy usually of salivary gland origin, has a signature v-myb avian myeloblastosis viral oncogene homolog-nuclear factor I/B (MYB-NFIB) gene fusion that activates MYB transcriptional regulatory activity. A new study in this issue by Stephens et al. is a comprehensive genomic mutation profiling analysis of this neoplasm and documents a common theme of alteration in chromatin regulatory genes. Also, mutations in SPEN (split ends, homolog of Drosophila), which encodes an RNA-binding coregulatory protein, suggest that other changes in transcriptional regulation may involve the NOTCH, FGFR, or other signaling pathways in which SPEN participates. Since there is a low prevalence of mutations in common oncogenes and tumor-suppressor genes, it is likely that alterations primarily in specific transcriptional regulatory genes, augmented by changes in chromatin structure, drive the neoplastic process in ACC.
authors.affiliation: University of Virginia Health Sciences Center, Charlottesville, Virginia 22908, USA. hff@virginia.edu
authors.forename: Henry F
authors.initials: HF
authors.lastname: Frierson
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Moskaluk
mesh_terms: D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D059472:Exome; D006801:Humans; D012468:Salivary Gland Neoplasms / Q000235:genetics*