Whole-genome sequencing of salivary gland adenoid cystic carcinoma

Eleni M. Rettig, C. Conover Talbot, Mark Sausen, Sian Jones, Justin A. Bishop, Laura D. Wood, Collin Tokheim, Noushin Niknafs, Rachel Karchin, Elana J. Fertig, Sarah J. Wheelan, Luigi Marchionni, Michael Considine, Carole Fakhry, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, Patrick K. Ha, Nishant Agrawal

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Adenoid cystic carcinomas (ACC) of the salivary glands are challenging to understand, treat, and cure. To better understand the genetic alterations underlying the pathogenesis of these tumors, we performed comprehensive genome analyses of 25 fresh-frozen tumors, including whole-genome sequencing and expression and pathway analyses. In addition to the welldescribed MYB-NFIB fusion that was found in 11 tumors (44%), we observed five different rearrangements involving the NFIB transcription factor gene in seven tumors (28%). Taken together, NFIB translocations occurred in 15 of 25 samples (60%, 95% CI, 41%-77%). In addition, mRNA expression analysis of 17 tumors revealed overexpression of NFIB in ACC tumors compared with normal tissues (P = 0.002). There was no difference in NFIB mRNA expression in tumors with NFIB fusions compared with those without. We also report somatic mutations of genes involved in the axonal guidance and Rho family signaling pathways. Finally, we confirm previously described alterations in genes related to chromatin regulation and Notch signaling. Our findings suggest a separate role for NFIB in ACC oncogenesis and highlight important signaling pathways for future functional characterization and potential therapeutic targeting.

Original languageEnglish (US)
Pages (from-to)265-274
Number of pages10
JournalCancer Prevention Research
Issue number4
StatePublished - Apr 2016

ASJC Scopus subject areas

  • Medicine(all)


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