Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma.
Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma.
复制标题
DOI：
10.1371/journal.pone.0037029
复制
发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Carpten JD
中科院分区：
文献类型：
--
作者：
Weiss GJ;Liang WS;Izatt T;Arora S;Cherni I;Raju RN;Hostetter G;Kurdoglu A;Christoforides A;Sinari S;Baker AS;Metpally R;Tembe WD;Phillips L;Von Hoff DD;Craig DW;Carpten JD
Olfactory neuroblastoma (ONB) is a rare cancer of the sinonasal tract with little molecular characterization. We performed whole genome sequencing (WGS) on paired normal and tumor DNA from a patient with metastatic-ONB to identify the somatic alterations that might be drivers of tumorigenesis and/or metastatic progression. Genomic DNA was isolated from fresh frozen tissue from a metastatic lesion and whole blood, followed by WGS at >30X depth, alignment and mapping, and mutation analyses. Sanger sequencing was used to confirm selected mutations. Sixty-two somatic short nucleotide variants (SNVs) and five deletions were identified inside coding regions, each causing a non-synonymous DNA sequence change. We selected seven SNVs and validated them by Sanger sequencing. In the metastatic ONB samples collected several months prior to WGS, all seven mutations were present. However, in the original surgical resection specimen (prior to evidence of metastatic disease), mutations in KDR, MYC, SIN3B, and NLRC4 genes were not present, suggesting that these were acquired with disease progression and/or as a result of post-treatment effects. This work provides insight into the evolution of ONB cancer cells and provides a window into the more complex factors, including tumor clonality and multiple driver mutations.
登录
查看更多内容
影响因子：
56.9
作者：
CHO, YJ;GORINA, S;PAVLETICH, NP
通讯作者：
PAVLETICH, NP
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1073/pnas.0710052104
发表时间：
2007-12-11
影响因子：
11.1
作者：
Beroukhim, Rameen;Getz, Gad;Sellers, William R.
通讯作者：
Sellers, William R.
影响因子：
5.6
作者：
Papadaki, H;Kounelis, S;Finkelstein, SD
通讯作者：
Finkelstein, SD
影响因子：
3.4
作者：
Kim, Jeong-Whun;Kong, Il Gyu;Chung, Jin-Haeng
通讯作者：
Chung, Jin-Haeng