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posted on 2023-04-01, 00:07 authored by Jiwei Bai, Jianxin Shi, Yazhuo Zhang, Chuzhong Li, Yujia Xiong, Hela Koka, Difei Wang, Tongwu Zhang, Lei Song, Wen Luo, Bin Zhu, Belynda Hicks, Amy Hutchinson, Erin Kirk, Melissa A. Troester, Mingxuan Li, Yutao Shen, Tianshun Ma, Junmei Wang, Xing Liu, Shuai Wang, Songbai Gui, Mary L. McMaster, Stephen J. Chanock, Dilys M. Parry, Alisa M. Goldstein, Xiaohong R. Yang Figure S1. A. PBRM1 and SETD2 expression between CC1 and CC2; B. PBRM1 and SETD2 expression between NCC1 and NCC2.
Funding
Beijing Municipal Science and Technology Commission (BMSTC)
research special fund for public welfare industry of health
intramural research program of national institute of health
History
ARTICLE ABSTRACT
Chordoma is a rare bone tumor with a high recurrence rate and limited treatment options. The aim of this study was to identify molecular subtypes of chordoma that may improve clinical management.
We conducted RNA sequencing in 48 tumors from patients with Chinese skull-base chordoma and identified two major molecular subtypes. We then replicated the classification using a NanoString panel in 48 patients with chordoma from North America.
Tumors in one subtype were more likely to have somatic mutations and reduced expression in chromatin remodeling genes, such as PBRM1 and SETD2, whereas the other subtype was characterized by the upregulation of genes in epithelial–mesenchymal transition and Sonic Hedgehog pathways. IHC staining of top differentially expressed genes between the two subtypes in 312 patients with Chinese chordoma with long-term follow-up data showed that the expression of some markers such as PTCH1 was significantly associated with survival outcomes.
Our findings may improve the understanding of subtype-specific tumorigenesis of chordoma and inform clinical prognostication and targeted options.
