American Association for Cancer Research
19406207capr150316-sup-capr-15-0316r_table_s2.pdf (141.44 kB)

Table S2 from Whole-Genome Sequencing of Salivary Gland Adenoid Cystic Carcinoma

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journal contribution
posted on 2023-04-03, 22:03 authored by 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, Shizhang Ling, Carole Fakhry, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, Patrick K. Ha, Nishant Agrawal

Somatic mutations in adenoid cystic carcinoma (N=25 tumors).


Adenoid Cystic Carcinoma Research Foundation


Virginia and D.K. Ludwig Fund for Cancer Research

The Sol Goldman Center for Pancreatic Cancer Research



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 well-described 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. Cancer Prev Res; 9(4); 265–74. ©2016 AACR.

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