Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma - PubMed (original) (raw)

. 2019 Feb;41(2):423-428.

doi: 10.1002/hed.25444. Epub 2018 Dec 12.

Andrew C Birkeland 1, Andrew J Rosko 1, Rebecca C Hoesli 1, Susan K Foltin 1, Paul Swiecicki 2 3, Michelle Mierzwa 2 4, Steven B Chinn 1, Andrew G Shuman 1, Kelly M Malloy 1, Keith A Casper 1, Scott A McLean 1, Gregory T Wolf 1, Carol R Bradford 1 2, Mark E Prince 1 2, John Chad Brenner 1 2 5 6, Matthew E Spector 1 2

Affiliations

Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma

Joshua D Smith et al. Head Neck. 2019 Feb.

Abstract

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.

Keywords: TCGA; laryngeal squamous cell carcinoma; larynx; persistent; recurrent.

© 2018 Wiley Periodicals, Inc.

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Figures

FIGURE 1.

FIGURE 1.

Mutational profiles of persistent/recurrent LSCC. Each column represents one patient/sequenced tumor. Genes altered in ≥ 1 patient/sequenced tumor shown.

FIGURE 2.

FIGURE 2.

Frequency of alterations in eight critical genes differs in primary vs. persistent/recurrent LSCC. P value for comparison (Chi-Square) listed above each gene.

References

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