作者
Raj K Gopal, Kirsten Kübler, Sarah E Calvo, Paz Polak, Dimitri Livitz, Daniel Rosebrock, Peter M Sadow, Braidie Campbell, Samuel E Donovan, Salma Amin, Benjamin J Gigliotti, Zenon Grabarek, Julian M Hess, Chip Stewart, Lior Z Braunstein, Peter F Arndt, Scott Mordecai, Angela R Shih, Frances Chaves, Tiannan Zhan, Carrie C Lubitz, Jiwoong Kim, A John Iafrate, Lori Wirth, Sareh Parangi, Ignaty Leshchiner, Gilbert H Daniels, Vamsi K Mootha, Dora Dias-Santagata, Gad Getz, David G McFadden
发表日期
2018/8/13
期刊
Cancer cell
卷号
34
期号
2
页码范围
242-255. e5
出版商
Cell Press
简介
Hürthle cell carcinoma of the thyroid (HCC) is a form of thyroid cancer recalcitrant to radioiodine therapy that exhibits an accumulation of mitochondria. We performed whole-exome sequencing on a cohort of primary, recurrent, and metastatic tumors, and identified recurrent mutations in DAXX, TP53, NRAS, NF1, CDKN1A, ARHGAP35, and the TERT promoter. Parallel analysis of mtDNA revealed recurrent homoplasmic mutations in subunits of complex I of the electron transport chain. Analysis of DNA copy-number alterations uncovered widespread loss of chromosomes culminating in near-haploid chromosomal content in a large fraction of HCC, which was maintained during metastatic spread. This work uncovers a distinct molecular origin of HCC compared with other thyroid malignancies.
学术搜索中的文章
RK Gopal, K Kübler, SE Calvo, P Polak, D Livitz… - Cancer Cell, 2018