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Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma.

Authors :: Smith JD
Birkeland AC
Rosko AJ
Hoesli RC
Foltin SK
Swiecicki P
Mierzwa M
Chinn SB
Shuman AG
Malloy KM
Casper KA
McLean SA
Wolf GT
Bradford CR
Prince ME
Brenner JC
Spector ME
Source :: Head & neck [Head Neck] 2019 Feb; Vol. 41 (2), pp. 423-428. Date of Electronic Publication: 2018 Dec 12.
Publication Year :: 2019
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).<br />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.<br />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.<br />Conclusions: Our results provide preliminary support for a distinct mutational profile of persistent/recurrent LSCC that requires validation in larger cohorts.<br /> (© 2018 Wiley Periodicals, Inc.)