Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma

Joshua D. Smith, Andrew C. Birkeland, Andrew J. Rosko, Rebecca C. Hoesli, Susan K. Foltin, Paul Swiecicki, Michelle Mierzwa, Steven B. Chinn, Andrew G. Shuman, Kelly M. Malloy, Keith A. Casper, Scott A. McLean, Gregory T. Wolf, Carol R. Bradford, Mark E. Prince, John Chad Brenner, Matthew E. Spector

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)423-428
Number of pages6
JournalHead and Neck
Issue number2
StatePublished - Feb 1 2019
Externally publishedYes


  • laryngeal squamous cell carcinoma
  • larynx
  • persistent
  • recurrent
  • TCGA

ASJC Scopus subject areas

  • Otorhinolaryngology


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