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Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma
Author(s) -
Smith Joshua D.,
Birkeland Andrew C.,
Rosko Andrew J.,
Hoesli Rebecca C.,
Foltin Susan K.,
Swiecicki Paul,
Mierzwa Michelle,
Chinn Steven B.,
Shuman Andrew G.,
Malloy Kelly M.,
Casper Keith A.,
McLean Scott A.,
Wolf Gregory T.,
Bradford Carol R.,
Prince Mark E.,
Brenner John Chad,
Spector Matthew E.
Publication year - 2019
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.25444
Subject(s) - cdkn2a , bap1 , cancer research , gene , biology , oncology , medicine , genetics
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.