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
- PMID: 30548484
- PMCID: PMC6431792
- DOI: 10.1002/hed.25444
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.
Figures
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.
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
- Surveillance, Epidemiology, and End Results (SEER) Program – National Cancer Institute. Cancer Stat Facts: Laryngeal Cancer 2016. Accessed February 6, 2018 from https://seer.cancer.gov/statfacts/html/laryn.html.
- Department of Veterans Affairs Laryngeal Cancer Study Group, Wolf G, Fisher SG, et al. Induction chemotherapy plus radiation compared with surgery plus radiation in patients with advanced laryngeal cancer. N Engl J Med 1991;324:1684–90. -PubMed
- Denaro N, Russi EG, Lefebvre JL, Merlano MC. A systematic review of current and emerging approaches in the field of larynx preservation. Radiother Oncol 2014;110:16–24. -PubMed
Publication types
MeSH terms
Grants and funding
- P30-CA046592R01-CA194536T32 DC535615U01-DE025184/NH/NIH HHS/United States
- P50 CA097248/CA/NCI NIH HHS/United States
- U01 DE025184/DE/NIDCR NIH HHS/United States
- P30 CA046592/CA/NCI NIH HHS/United States
- R01-CA194536/NH/NIH HHS/United States
- R01 CA194536/CA/NCI NIH HHS/United States
- T32 DC005356/DC/NIDCD NIH HHS/United States
- U01-DE025184/NH/NIH HHS/United States
- American Head and Neck Society/International
- T32 DC535615/NH/NIH HHS/United States
- P30-CA046592/NH/NIH HHS/United States
LinkOut - more resources
Full Text Sources
Research Materials
Miscellaneous