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- W4361946314 abstract "<div>Abstract<p><b>Purpose:</b> Adenoid cystic carcinoma (ACC) is an indolent salivary gland malignancy, characterized by t(6;9) translocations and <i>MYB</i>–<i>NFIB</i> gene fusions in approximately 50% of the tumors. The genetic alterations underlying t(6;9)-negative and t(6;9)-positive/<i>MYB–NFIB</i> fusion–negative ACC remain unknown. To uncover the genetic alterations in ACC lacking the canonical translocation and fusion transcript and identify new abnormalities in translocation positive tumors.</p><p><b>Experimental Design:</b> We performed whole-genome sequencing in 21 salivary ACCs and conducted targeted molecular analyses in a validation set (81 patients). Microarray gene-expression data were also analyzed to explore the biologic differences between fusion positive and negative tumors.</p><p><b>Results:</b> We identified a novel <i>MYBL1–NFIB</i> gene fusion as a result of t(8;9) translocation and multiple rearrangements in the <i>MYBL1</i> gene in 35% of the t(6;9)-negative ACCs. All <i>MYBL1</i> alterations involved deletion of the C-terminal negative regulatory domain and were associated with high <i>MYBL1</i> expression. Reciprocal <i>MYB</i> and <i>MYBL1</i> expression was consistently found in ACCs. In addition, 5′-<i>NFIB</i> fusions that did not involve <i>MYB</i>/<i>MYBL1</i> genes were identified in a subset of t(6;9)-positive/fusion-negative tumors. We also delineated distinct gene-expression profiles in ACCs associated with the length of the <i>MYB</i> or <i>MYBL1</i> fusions, suggesting a biologic importance of the C-terminal part of these fusions.</p><p><b>Conclusions:</b> Our study defines new molecular subclasses of ACC characterized by <i>MYBL1</i> rearrangements and 5′-<i>NFIB</i> gene fusions. <i>Clin Cancer Res; 22(3); 725–33. ©2015 AACR</i>.</p></div>" @default.
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- W4361946314 date "2023-03-31" @default.
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- W4361946314 title "Data from Novel <i>MYBL1</i> Gene Rearrangements with Recurrent <i>MYBL1–NFIB</i> Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations" @default.
- W4361946314 doi "https://doi.org/10.1158/1078-0432.c.6527166" @default.
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