ArticleBMC cancer2025
Certain pMMR colorectal cancer patients should undergo additional MSI-PCR testing to reduce the risk of misdiagnosing MSI-H and Lynch syndrome.
Article in BMC cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed.
- A Lynch Syndrome Family With GermlineClinical case reports · 2026Article
- Article
- Current Status of the Diagnosis and Treatment of Mismatch Repair Deficient Colorectal Cancer.Biomedicines · 2026Review
- Pathological features and prognosis based on microsatellite stability status in colorectal cancer patients: a retrospective analysis.International journal of clinical and experimental pathology · 2026Article
- Tumor-cell PD-L1 expression, mismatch repair status, and survival outcomes in colorectal carcinoma: a retrospective Pakistani cohort study.Frontiers in oncology · 2026Article
- A serum metabolite-based machine learning model predicts response to neoadjuvant immunotherapy in mismatch repair-deficient colorectal cancer.Frontiers in oncology · 2026Article
- Advances in Precision Oncology: From Molecular Profiling to Regulatory-Approved Targeted Therapies.Cancers · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
backgroundMicrosatellite instability (MSI) status guides immunotherapy and Lynch syndrome (LS) screening. Given the 5-10% discordance rate between mismatch repair immunohistochemistry (MMR-IHC) and Microsatellite instability polymerase chain reaction (MSI-PCR), true high microsatellite instability (MSI-H) cases in proficient mismatch repair (pMMR) colorectal cancer (CRC) may miss critical interventions. This study investigates molecular pathological characteristics between concordant and discordant groups assessed by these two methods, aiming to reduce the risk of misdiagnosing MSI-H and LS.
methodsThe MMR-IHC and MSI-PCR were conducted respectively in 2910 CRC patients. Sanger sequencing identified the mutation status of KRAS, BRAF, and PIK3CA genes, and next-generation sequencing (NGS) detected LS-related genes. We compared the molecular pathological features between the pMMR&MSS and pMMR&MSI-H groups, as well as between the dMMR&MSI-H and dMMR&MSS groups. Eleven screening strategies for pMMR&MSI-H were formulated for pMMR patients.
resultsThe consistency rate between the two methods was 96.8% (2816/2910), with a discordance rate of 3.2% (94/2910), comprising 43 cases in the pMMR&MSI-H group and 51 cases in the dMMR&MSS group. Germline mutations in LS-associated genes were detected in 36.4% (4/11) of the pMMR&MSI-H group but were absent in all 9 dMMR&MSS cases. Compared with the pMMR&MSS consistent group, the pMMR&MSI-H inconsistent group showed higher prevalence in patients with right colon (55.8% vs.20.3%), well-differentiated (18.8% vs.8.4%), and PIK3CA exon 20 (E20) mutations (30.0% vs.8.7%). Compared with the dMMR&MSI-H consistent group, the dMMR&MSS inconsistent group was more common in patients with rectum (49.0% vs. 15.2%), stage IV patients (23.5% vs. 8.3%), and PIK3CA E20 wild-type (97.8% vs. 82.4%). The strategy of supplemental MSI-PCR detection for the right colon pMMR patients could identify 55.8% (24/43) of pMMR&MSI-H patients. Adding the detection of patients with PIK3CA E20 mutation based on the right colon can increase the PMMR&MSI-H detection rate to 65.1% (28/43).
conclusionWe recommend supplemental MSI-PCR testing for pMMR CRC patients with right colon OR PIK3CA E20 mutation. For those with MSI-H results, subsequent NGS should be performed to identify germline mutations in LS-associated genes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.