PMID- 30548484 OWN - NLM STAT- MEDLINE DCOM- 20200909 LR - 20200909 IS - 1097-0347 (Electronic) IS - 1043-3074 (Print) IS - 1043-3074 (Linking) VI - 41 IP - 2 DP - 2019 Feb TI - Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma. PG - 423-428 LID - 10.1002/hed.25444 [doi] AB - 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. CI - (c) 2018 Wiley Periodicals, Inc. FAU - Smith, Joshua D AU - Smith JD AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Birkeland, Andrew C AU - Birkeland AC AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Rosko, Andrew J AU - Rosko AJ AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Hoesli, Rebecca C AU - Hoesli RC AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Foltin, Susan K AU - Foltin SK AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Swiecicki, Paul AU - Swiecicki P AD - Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan. AD - Department of Internal Medicine, Division of Hematology and Oncology, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Mierzwa, Michelle AU - Mierzwa M AD - Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan. AD - Department of Radiation Oncology, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Chinn, Steven B AU - Chinn SB AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Shuman, Andrew G AU - Shuman AG AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Malloy, Kelly M AU - Malloy KM AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Casper, Keith A AU - Casper KA AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - McLean, Scott A AU - McLean SA AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Wolf, Gregory T AU - Wolf GT AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Bradford, Carol R AU - Bradford CR AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. AD - Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Prince, Mark E AU - Prince ME AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. AD - Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Brenner, John Chad AU - Brenner JC AUID- ORCID: 0000-0003-3238-1111 AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. AD - Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan. AD - Program in Cellular and Molecular Biology, University of Michigan Medical School, Ann Arbor, Michigan. AD - Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan. FAU - Spector, Matthew E AU - Spector ME AD - Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan. AD - Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan. LA - eng GR - P30-CA046592R01-CA194536T32 DC535615U01-DE025184/NH/NIH HHS/United States GR - P50 CA097248/CA/NCI NIH HHS/United States GR - U01 DE025184/DE/NIDCR NIH HHS/United States GR - P30 CA046592/CA/NCI NIH HHS/United States GR - R01-CA194536/NH/NIH HHS/United States GR - R01 CA194536/CA/NCI NIH HHS/United States GR - T32 DC005356/DC/NIDCD NIH HHS/United States GR - U01-DE025184/NH/NIH HHS/United States GR - American Head and Neck Society/International GR - T32 DC535615/NH/NIH HHS/United States GR - P30-CA046592/NH/NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20181212 PL - United States TA - Head Neck JT - Head & neck JID - 8902541 SB - IM MH - Adult MH - Aged MH - Carcinoma, Squamous Cell/*genetics/pathology/therapy MH - Cohort Studies MH - DNA Mutational Analysis MH - Humans MH - Laryngeal Neoplasms/*genetics/pathology/therapy MH - Male MH - Middle Aged MH - Mutation/*genetics MH - Neoplasm Recurrence, Local/*genetics/mortality/pathology MH - Survival Rate PMC - PMC6431792 MID - NIHMS992882 OTO - NOTNLM OT - TCGA OT - laryngeal squamous cell carcinoma OT - larynx OT - persistent OT - recurrent EDAT- 2018/12/15 06:00 MHDA- 2020/09/10 06:00 PMCR- 2020/02/01 CRDT- 2018/12/15 06:00 PHST- 2018/04/22 00:00 [received] PHST- 2018/06/22 00:00 [revised] PHST- 2018/09/06 00:00 [accepted] PHST- 2018/12/15 06:00 [pubmed] PHST- 2020/09/10 06:00 [medline] PHST- 2018/12/15 06:00 [entrez] PHST- 2020/02/01 00:00 [pmc-release] AID - 10.1002/hed.25444 [doi] PST - ppublish SO - Head Neck. 2019 Feb;41(2):423-428. doi: 10.1002/hed.25444. Epub 2018 Dec 12.