SynthesisCancer medicine2021
Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.
Synthesis in Cancer medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- The Efficacy of Immune Checkpoint Inhibitors in Microsatellite Stable Colorectal Cancer: A Systematic Review.The oncologist · 2024Pooled it
- Age-stratified mutation patterns in early-onset colorectal cancer reveal distinct molecular features and therapeutic implications.ESMO gastrointestinal oncology · 2026Article
- A signature-agnostic test for differences between tumor mutation spectra reveals carcinogen and ancestry effects.Communications biology · 2026Article
- Aggressive Right-Sided Colon Cancer in a Young Adult: Triple-Whammy Mutations (POLE, KRAS, BRCA1/2) Highlight Emerging Genetic Associations.ACG case reports journal · 2026Article
- Mutational Analysis of Early, Low-Grade Bowel Polyps Defines a Subgroup with Concurrent, High-Risk Oncogenic Drivers Independent of Polyp Size.Cancer research communications · 2025Article
- Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.International journal of molecular sciences · 2025Article
- Whole-Exome Sequencing Analysis of Inflammatory Bowel Disease-Associated Serrated Dysplasia.International journal of molecular sciences · 2025Article
- A signature-agnostic test for differences between tumor mutation spectra reveals carcinogen and ancestry effects.bioRxiv : the preprint server for biology · 2025Article
- Neoadjuvant immunotherapy leads to complete pathologic response in locally advanced colon cancer.Clinical case reports · 2024Article
- POLE-Mutant Colon Adenocarcinoma-Case Presentation and Histopathological Evaluation.Journal of gastrointestinal cancer · 2024Article
- Deep learning for dual detection of microsatellite instability and POLE mutations in colorectal cancer histopathology.NPJ precision oncology · 2024Article
- Treatment sequencing in metastatic colorectal cancer.Contemporary oncology (Poznan, Poland) · 2024Review
- Clinical implications of PD-L1 expression and pathway-related molecular subtypes in advanced Asian colorectal cancer patients.American journal of cancer research · 2024Article
- The game-changing impact ofFrontiers in oncology · 2024Review
- Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.Journal of cancer research and clinical oncology · 2023Article
- CDX-2 expression correlates with clinical outcomes in MSI-H metastatic colorectal cancer patients receiving immune checkpoint inhibitors.Scientific reports · 2023Article
- Case report: POLE (P286R) mutation in a case of recurrent intestinal leakage and its treatment.Frontiers in oncology · 2023Article
- Pathological complete response to immune checkpoint inhibitor in patients with colorectal cancer liver metastases harboringJournal for immunotherapy of cancer · 2022Article
- Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.Frontiers in genetics · 2022Article
- Microsatellite Instability and Metastatic Colorectal Cancer - A Clinical Perspective.Frontiers in oncology · 2022Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
POLE mutations, which lead to an ultramutated phenotype in colorectal cancer (CRC), have been reported as a promising marker in immunotherapy. We performed sequencing of CRC cases in Zhejiang University (ZJU) and extracted obtainable data from recently published results, including The Cancer Genome Atlas (TCGA), Japanese studies and clinical trials, to present clinical patterns of POLE driver-mutated CRC and reveal its heterogeneity. The rate of somatic POLE driver mutations has been reported as 2.60% (ZJU cohort), 1.50% (TCGA cohort), 1.00% (Japan cohort), and 1.00% (Lancet cohort). POLE driver mutations show a clearly increased mutation burden (mean TMB: 217.98 mut/Mb in ZJU; 203.13 mut/Mb in TCGA). Based on pooled data, more than 70.00% of patients with POLE driver mutations were diagnosed before they were 55 years old and at an early disease stage (Stage 0-II >70.00%), and more than 70.00% were male. Among Asian patients, 68.40% developed POLE driver mutations in the left-side colon, whereas 64.00% of non-Asian patients developed them in the right-side colon (p < 0.01). The top three amino acid changes due to POLE driver mutations are P286R, V411L, and S459F. Investigators and physicians should ascertain the heterogeneity and clinical patterns of POLE driver mutations to be better equipped to design clinical trials and analyze the data.
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