Gene Analysis for the Sebaceous Carcinoma of Scalp by Whole Exome Sequencing
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2023.0423
- VernacularTitle:基于全外显子组测序对头皮皮脂腺癌的基因分析
- Author:
Ben-rong ZHENG
1
;
Yi-na WANG
1
;
Bo-xiong JIANG
1
;
Ya-le LIANG
2
;
Sheng-jun CAI
2
;
Na-na ZHANG
3
Author Information
1. VIP Medical Service Center, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China
2. Health Management Center, The People’s Hospital of Nyingchi, Nyingchi 860000, China
3. Department of Pathology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China
- Publication Type:Journal Article
- Keywords:
scalp sebaceous carcinoma;
whole exome sequencing;
driver gene;
ACVR1B;
TFDP1;
mutation
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2023;44(4):712-717
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo reveal the differences of the related pathogenicity gene mutations between sebaceous adenocarcinoma （SC） of scalp and sebaceous adenoma （SA） of scalp on whole exome level. MethodsWhole exome sequencing was performed on a SC sample and a SA sample by Illumina Hiseq 2500 platform. Suspicious single nucleotide variation sites were selected for mutation conservation and functional analysis. SciClone 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 sample were screened by MutSigCV software， and compared with the known driver genes. ResultsTwo driver genes TFDP1 and ACVR1B harboring mutations in scalp SC compared to SA were found. ConclusionsThe finding of mutation in driver genes TFDP1 and ACVR1B should be confirmed in a large cohort， which might reveal the mechanism of scalp SC development and find a therapeutic target for SC.
