Whole-Exome Sequencing of Sinonasal Small Cell Carcinoma Arising within a Papillary Schneiderian Carcinoma In Situ.

ABSTRACT: OBJECTIVE:The pathogenetic underpinnings of extrapulmonary small cell carcinomas (EPSCCs) of the head and neck are poorly understood. We sought to describe the clinical case and whole-exome DNA sequencing data of a patient with sinonasal Schneiderian carcinoma in situ whose tumor progressed to small cell carcinoma (SCC). STUDY DESIGN:Case report and whole-exome sequencing of tumor DNA. SETTING:Academic medical center. SUBJECTS AND METHODS:A 52-year-old man with sinonasal Schneiderian carcinoma in situ whose tumor progressed to small cell carcinoma. We performed whole-exome genetic sequencing and copy-number variation (CNV) analysis of tumor and normal DNA extracted from flash-frozen, paraffin-embedded (FFPE) samples. RESULTS:A total of 93 high-confidence, nonsynonymous somatic mutation eve

SUBMITTER: Smith J 

PROVIDER: S-EPMC6212311 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature