DNA methylation-based classification of sinonasal undifferentiated carcinoma.

ABSTRACT: Sinonasal undifferentiated carcinoma (SNUC) is an aggressive malignancy harboring IDH2 R172 mutations in >80% cases. We explored the potential of genome-wide DNA methylation profiling to elucidate tumor biology and improve the diagnosis of sinonasal undifferentiated carcinoma and its histologic mimics. Forty-two cases, including sinonasal undifferentiated, large cell neuroendocrine, small cell neuroendocrine, and SMARCB1-deficient carcinomas and olfactory neuroblastoma, were profiled by Illumina Infinium Methylation EPIC array interrogating >850,000 CpG sites. The data were analyzed using a custom bioinformatics pipeline. IDH2 mutation status was determined by the targeted exome sequencing (MSK-IMPACT^TM) in most cases. H3K27 methylation level was assessed by the immunohistochemi

SUBMITTER: Dogan S 

PROVIDER: S-EPMC7391258 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature