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Genomic profiles and clinical presentation of chordoma

Authors :
Hela Koka
Weiyin Zhou
Mary L. McMaster
Jiwei Bai
Wen Luo
Alyssa Klein
Tongwu Zhang
Xing Hua
Xin Li
Difei Wang
Yujia Xiong
Kristine Jones
Aurelie Vogt
Belynda Hicks
Dilys Parry
Alisa M. Goldstein
Xiaohong R. Yang
Source :
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-9 (2024)
Publication Year :
2024
Publisher :
BMC, 2024.

Abstract

Abstract Chordoma is a rare bone cancer with variable clinical outcomes. Here, we recruited 184 sporadic chordoma patients from the US and Canada and collected their clinical and treatment data. The average age at diagnosis was 45.5 years (Range 5–78) and the chordoma site distribution was 49.2% clivus, 26.2% spinal, and 24.0% sacral. Most patients (97.5%) received surgery as the primary treatment, among whom 85.3% also received additional treatment. Except for the most prevalent cancers like prostate, lung, breast, and skin cancer, there was no discernible enrichment for any specific cancer type among patients or their family members. Among a subset of patients (N = 70) with tumor materials, we conducted omics analyses and obtained targeted panel sequencing and SNP array genotyping data for 51 and 49 patients, respectively. The most recurrent somatic driver mutations included PIK3CA (12%), followed by chromatin remodeling genes PBRM1 and SETD2. Amplification of the 6q27 region, containing the chordoma susceptibility gene TBXT, was detected in eight patients (16.3%). Clival patients appeared to be less likely to carry driver gene mutations, chromosome arm level deletion events (e.g., 5p, 5p, and 9p), or 6q27 amplification compared to sacral patients. After adjusting for age, sex, tumor site, and additional treatment, patients with somatic deletions of 14q (OR = 13.73, 95% CI 1.96–96.02, P = 0.008) and 18p (OR = 13.68, 95% CI 1.77–105.89, P = 0.012) were more likely to have persistent chordoma. The study highlights genomic heterogeneity in chordoma, potentially linked to location and clinical progression.

Details

Language :
English
ISSN :
20515960
Volume :
12
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Acta Neuropathologica Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.85edb55c6c274b2e85c9cce9b31a7e2e
Document Type :
article
Full Text :
https://doi.org/10.1186/s40478-024-01833-9