ArticleThe oncologist2020
Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer.
Article in The oncologist, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Review
- Decoding Immunotherapy Response in Colorectal Cancer: Translational Insights Beyond MSI.Cancers · 2026Review
- Emerging role of DNA polymerase epsilon non-exonuclease domain mutations in colorectal cancer: From sequence variants to clinical implications.World journal of gastroenterology · 2026Article
- DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.World journal of gastroenterology · 2025Article
- BPI-28592 as a novel second generation inhibitor for NTRK fusion tumors.NPJ precision oncology · 2024Article
- RAS/RAF mutations and microsatellite instability status in primary colorectal cancers according to HER2 amplification.Scientific reports · 2024Article
- Unleashing the power of anti-HER2 therapies in metastatic colorectal cancer: paving the way for a brighter future.ESMO gastrointestinal oncology · 2024Review
- Prevalence and clinico-genomic characteristics of patients with TRK fusion cancer in China.NPJ precision oncology · 2023Article
- Integrated multi-omics approach to distinct molecular characterization and classification of early-onset colorectal cancer.Cell reports. Medicine · 2023Article
- Colorectal Cancer Liver Metastases: Genomics and Biomarkers with Focus on Local Therapies.Cancers · 2023Review
- Review
- NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.Cancer medicine · 2022Article
- Gene fusions and oncogenic mutations in MLH1 deficient and BRAFV600E wild-type colorectal cancers.Virchows Archiv : an international journal of pathology · 2022Article
- Predictive molecular markers for the treatment with immune checkpoint inhibitors in colorectal cancer.Journal of clinical laboratory analysis · 2022Review
- Relationship of HER2 Alteration and Microsatellite Instability Status in Colorectal Adenocarcinoma.The oncologist · 2021Article
- Selection of Oral Therapeutics in China for the Treatment of Colorectal Cancer.Current treatment options in oncology · 2021Review
- NTRK fusion in Japanese colorectal adenocarcinomas.Scientific reports · 2021Article
- Efficacy and side effects of immune checkpoint inhibitors in the treatment of colorectal cancer.Therapeutic advances in gastroenterology · 2021Review
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe increasing molecular characterization of colorectal cancers (CRCs) has spurred the need to look beyond RAS, BRAF, and microsatellite instability (MSI). Genomic alterations, including ERBB2 amplifications and mutations, POLE mutations, MSI, and NTRK1-3 fusions, have emerged as targets for matched therapies. We sought to study a clinically annotated Chinese cohort of CRC subjected to genomic profiling to explore relative target frequencies.
methodsTumor and matched whole blood were collected from 609 Chinese patients with CRC. Extracted DNA was analyzed for all classes of genomic alterations across 450 cancer-related genes, including single-nucleotide variations (SNVs), short and long insertions and deletions (indels), copy number variations, and gene rearrangements. Next-generation sequencing-based computational algorithms also determined tumor mutational burden and MSI status.
resultsAlterations in TP53 (76%), APC (72%), and KRAS (46%) were common in Chinese patients with CRC. For the first time, the prevalence of NTRK gene fusion was observed to be around 7% in the MSI-high CRC cohort. Across the cohort, MSI was found in 9%, ERBB2 amplification in 3%, and POLE pathogenic mutation in 1.5% of patients. Such results mostly parallel frequencies observed in Western patients. However, POLE existed at a higher frequency and was associated with large tumor T-cell infiltration.
conclusionComparing to the Western counterparts, POLE mutations were increased in our cohort. The prevalence of NTRK gene fusion was around 7% in the MSI-high CRC cohort. Increased adoption of molecular profiling in Asian patients is essential for the improvement of therapeutic outcomes. IMPLICATIONS FOR PRACTICE: The increasing use of genomic profiling assays in colorectal cancer (CRC) has allowed for the identification of a higher number of patient subsets benefiting from matched therapies. With an increase in the number of therapies, assays simultaneously evaluating all candidate biomarkers are critical. The results of this study provide an early support for the feasibility and utility of genomic profiling in Chinese patients with CRC.
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