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Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma.
- Smith, Joshua D;
- Birkeland, Andrew C;
- Rosko, Andrew J;
- Hoesli, Rebecca C;
- Foltin, Susan K;
- Swiecicki, Paul;
- Mierzwa, Michelle;
- Chinn, Steven B;
- Shuman, Andrew G;
- Malloy, Kelly M;
- Casper, Keith A;
- McLean, Scott A;
- Wolf, Gregory T;
- Bradford, Carol R;
- Prince, Mark E;
- Brenner, John Chad;
- Spector, Matthew E
- et al.
Published Web Location
https://doi.org/10.1002/hed.25444Abstract
BACKGROUND:We sought to describe targeted DNA sequencing data of persistent/recurrent laryngeal squamous cell carcinoma (LSCC) and to compare gene-specific alteration frequencies with that of primary, untreated LSCC specimens from The Cancer Genome Atlas (TCGA). METHODS:The tumors of 21 patients with persistent/recurrent LSCC were subjected to targeted DNA sequencing using the Ion AmpliSeq Comprehensive Cancer Panel. Gene-specific alteration frequencies were compared (Chi-Square test) to primary, untreated LSCC sequencing data from TCGA using the cBioPortal platform. RESULTS:Persistent/recurrent LSCC was characterized by a high rate of inactivating alterations in TP53 (38.1%) and CDKN2A (33%), amplification events of CCND1 (19.1%), and ERBB2 (14.3%), and NOTCH1 (19.1%) mutations. Comparison of primary vs persistent/recurrent LSCC revealed significant differences in alteration frequencies of eight critical genes: BAP1, CDKN2A, DCUN1D1, MSH2, MTOR, PIK3CA, TET2, and TP53. CONCLUSIONS:Our results provide preliminary support for a distinct mutational profile of persistent/recurrent LSCC that requires validation in larger cohorts.
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