Whole exome sequencing analysis for sebaceous carcinoma of the parotid gland

Abstract

Objective To analyze potential pathogenic gene mutations related to sebaceous carcinoma （SC） of the parotid gland by whole exome sequencing （WES）. Methods One sample from a patient pathologically diagnosed with SC of the parotid gland and 1 sample from 1 patient with sebaceous adenoma （SA） of scalp were collected and prepared for WES by Illumina Hiseq 2500 platform. Suspicious single nucleotide variation sites were selected for mutation conservation and functional analysis. SciClone software was used to track subclone evolution and clonal map information was obtained for each tumor sample. The high-frequency significant gene mutations in the tumor samples were screened by MutSigCV software， and compared with the known driver genes. Results There were 57 driver genes harboring mutations in SC of the parotid gland compared to those of SA of the scalp. Conclusion SC of the parotid gland yields gene mutations and mutation patterns different from malignant tumors.

Keywords

• sebaceous carcinoma of the parotid gland|whole exome sequencing|driver gene|mutation