MSI-H/dMMR

Our ML approach accurately predicted MSI status in colorectal and uterine cancers using multiomics data derived from NGS, without relying on direct microsatellite sequencing. The ability to identify MSI-high tumors among indeterminate cases demonstrates potential to improve diagnostic precision and ensures timely access to immunotherapy for patients with MSI-high disease.

These observed frequencies should be interpreted as case-level implementation signals surfaced through routine CGP rather than assay superiority evidence, biological prevalence estimates, or treatment-benefit data. This nationwide, platform-aware benchmark supports practical interpretation of tumor-agnostic eligibility signals in routine CGP practice in Japan.

By combining simplicity, reproducibility, and minimal computational overhead, the present pipeline provides an accessible framework for targeted transcriptomic analysis of long-read sequencing data. It may facilitate adoption of ONT-based transcriptomic profiling in settings with restricted computational resources.

This work suggests that targeting TMEM184A or its associated autophagic pathway could restore antigen presentation in MHC-I-deficient tumors, offering a potential combinatorial strategy to overcome adaptive immune resistance in multiple malignancies. Abbreviations: AKP organoids:apcandtrp53knockout, KRASG12Dmutation organoids; CRC: colorectal cancer; CQ: chloroquine; GABARAPL2/Atg8: GABA type A receptor associated protein like 2; IF: immunofluorescence; IFNG: interferon gamma; IHC: immunohistochemistry; MHC-I: major histocompatibility complex I; qRT-PCR: quantitative reverse transcription PCR; MSI-H: microsatellite instability-high; MSS: microsatellite-stable; TMEM184A: transmembrane proteins 184a.

For this population, combination strategies incorporating immunotherapy with chemotherapy or other systemic agents have shown encouraging early efficacy in terms of tumor regression and surgical feasibility, although robust evidence for long-term survival benefit and optimal regimen selection is still lacking.Collectively, systemically driven conversion strategies enable earlier assessment of therapeutic sensitivity and provide a framework for risk-adapted, biology-informed treatment decision-making. Future efforts should focus on integrating imaging, molecular profiling, and early response assessment to refine patient selection, validate surrogate endpoints for long-term outcomes, and optimize treatment sequencing and safety in combined-modality approaches.

In recent years,neoadjuvant therapy has become an integral part of the standard treatment for locally advanced rectal cancer.However,only approximately 15%-25% of patients achieve pathological complete response(pCR).With advances in tumor immunotherapy,treatment strategies targeting mismatch repair deficiency(dMMR) or microsatellite instability-high (MSI-H) status have demonstrated remarkable efficacy.Since the introduction of immunotherapy,either as monotherapy or in combination with chemoradiation,the pCR rate in dMMR or MSI-H rectal cancer patients has significantly improved,far surpassing that achieved with conventional neoadjuvant regimens.This enhancement in tumor regression has also facilitated the adoption of watch-and-wait(W&W)strategies.Accurate assessment of tumor response is essential for guiding individualized treatment plans.Consequently,more accurate evaluation methods are reqnired.This article comprehensively reviews recent advances in imaging,molecular biomarkers,endoscopic techniques,and multipoint full-layer puncture biopsy,offering a theoretical foundation and technical support for organ preservation strategies in the era of precision medicine.

P3, N=360, Suspended, National Cancer Institute (NCI) | Recruiting --> Suspended

P1/2, N=28, Active, not recruiting, Sun Yat-sen University | Recruiting --> Active, not recruiting

We report an extremely rare case of SR of poorly differentiated CRC with dMMR and marked TILs. Enhanced tumor immunogenicity associated with dMMR and immune activation may contribute to CRC regression.

In cases of nonresectable or metastatic disease platinum-etoposide-based regimens are the standard treatment. Definitive chemoradiotherapy represents an equivalent alternative for inoperable advanced cases. Due to the lack of prospective data all therapeutic recommendations must be considered an expert consensus.

P1/2, N=358, Recruiting, Xilio Development, Inc. | Trial completion date: Feb 2027 --> Sep 2028 | Trial primary completion date: Feb 2027 --> Sep 2028

P1/2, N=121, Active, not recruiting, Precision Biologics, Inc | Recruiting --> Active, not recruiting | Trial completion date: Jan 2029 --> Nov 2026 | Trial primary completion date: Jan 2028 --> Jun 2026