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BIOMARKER:

MSI-H/dMMR

i
Other names: MSI-H, Microsatellite instability - high, dMMR
Related biomarkers:
Related tests:
21h
Surgical stage in the era of molecular profiling of endometrial cancer. (PubMed, Eur J Cancer)
Surgical stage remains a strong prognostic factor across molecular subtypes and should be considered alongside molecular classification when tailoring adjuvant treatment in EC.
Journal
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TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon)
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TP53 mutation • MSI-H/dMMR • POLE mutation
1d
Immunotherapy for urological cancers in 2025 (PubMed, Magy Onkol)
By 2025, immunotherapy has become the therapeutic basis for UC and RCC, both in metastatic and curative treatments. In PCa and TGCT, immunotherapy options remain in the experimental phase, but research is ongoing with new combinations and biomarker-driven strategies.
Review • Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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MSI (Microsatellite instability)
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MSI-H/dMMR
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Keytruda (pembrolizumab) • cisplatin • Padcev (enfortumab vedotin-ejfv)
1d
A nyelőcső-, GEJ- és gyomordaganatok immunterápiája. (PubMed, Magy Onkol)
In esophageal tumors, adjuvant nivolumab is used. Among HER2-positive patients, adding pembrolizumab to trastuzumab and chemotherapy - in PDL1 CPS ≥1 cases - has become a new standard. A special mention must be made of MSI-H tumors, in which immunotherapy is highly effective, and adjuvant chemotherapy is not recommended according to current guidelines.
Review • Journal
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HER-2 (Human epidermal growth factor receptor 2) • MSI (Microsatellite instability)
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HER-2 positive • MSI-H/dMMR
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Keytruda (pembrolizumab) • Opdivo (nivolumab) • Herceptin (trastuzumab)
2d
Quantitative Histology of Non-Metastatic Regional Lymph Nodes as a Novel Prognostic Indicator in Microsatellite Instability-High Colorectal Cancer. (PubMed, Mod Pathol)
In conclusion, quantitative GC-related histology of nrLNs can serve as a prognostic indicator for MSI-H CRC. Our findings suggest that GC-activated nrLNs may represent B cell-mediated antitumor immunity, independent of tumor-infiltrating T cells and tumor-intrinsic molecular characteristics.
Journal • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • MSI-H
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability)
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MSI-H/dMMR
2d
Cost-Effectiveness of Pembrolizumab as First-Line Therapy for Advanced Colorectal Cancer With High Microsatellite Instability or Mismatched Repair Deficiency in Japan. (PubMed, Value Health Reg Issues)
Although outcomes varied depending on the PEM treatment duration and the medical cost setting after disease progression in the SoC group, PEM was suggested to be more cost-effective than SoC at the reference willingness-to-pay threshold of JPY15 million per QALY in Japan.
Journal • HEOR • Microsatellite instability • Cost-effectiveness • MSI-H
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MSI (Microsatellite instability)
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MSI-H/dMMR
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Keytruda (pembrolizumab)
2d
Dietary restriction-responsive genes define prognostic subtypes and predict metastasis in colorectal cancer. (PubMed, Transl Cancer Res)
We established a DRRG-based prognostic model for CRC and uncovered their links to metabolic regulation, immune infiltration, and metastasis. These findings highlight DRRGs as potential biomarkers and therapeutic targets and suggest that DR-mimicking strategies may benefit CRC management.
Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MGP (Matrix Gla Protein)
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MSI-H/dMMR
2d
Therapeutic Frontiers in Gastroesophageal Cancer: Contemporary Concepts in Management and Therapy. (PubMed, Int J Mol Sci)
This review provides a comprehensive overview of the evolving therapeutic landscape of GEC. It emphasizes the growing role of precision medicine and the integration of emerging clinical data into practice.
Review • Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • CLDN18 (Claudin 18)
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MSI-H/dMMR
3d
Analysis of Discordance between Mismatch Repair and Microsatellite Instability Testing in Endometrial Cancer. (PubMed, Hum Pathol)
In conclusion, discordance between IHC- and NGS-based MMR/MSI detection is primarily attributable to MSH6 loss with MSH3 compensation and MLH1 promoter methylation. Recognizing these mechanisms is essential for accurate molecular subtyping and clinical decision-making in EC.
Journal • Mismatch repair • Microsatellite instability • MSi-H Biomarker
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH3 (MutS Homolog 3)
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MSI-H/dMMR
3d
Neoadjuvant Immunotherapy With Prolgolimab in Patients With Locally Advanced Microsatellite Instability/Defective Mismatch Repair Colorectal Cancer. (PubMed, JCO Precis Oncol)
The use of prolgolimab in locally advanced dMMR/MSI CRC is associated with high rates of pCR and cCR, allowing for further exploration of organ-sparing approaches in these patients.
Journal • Mismatch repair • Microsatellite instability • dMMR
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MSI (Microsatellite instability)
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MSI-H/dMMR
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Forteca (prolgolimab)
3d
A case of dramatic response to pembrolizumab monotherapy in dMMR unresectable colorectal cancer diagnosed following abdominal hemorrhage due to segmental arterial mediolysis. (PubMed, Clin J Gastroenterol)
This highlights the significance of multidisciplinary management, incorporating immunotherapy, surgical interventions, and vascular assessment to optimize clinical outcomes in dMMR colorectal cancer complicated by vascular pathologies such as SAM. Further investigation into the relationship between vascular pathologies, such as SAM, and malignancy is warranted.
Journal • dMMR
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PD-L1 (Programmed death ligand 1) • CD8 (cluster of differentiation 8)
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PD-L1 expression • MSI-H/dMMR
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Keytruda (pembrolizumab)
3d
Complete remission of advanced MSI-H rectal cancer in a young patient treated with nivolumab: a case report and critical appraisal of the literature. (PubMed, Front Oncol)
The observed toxicity was consistent with the known toxicity profile of immunotherapy and did not lead to discontinuation of therapy. Our case report highlights the need to test for predictive markers in patients with locoregionally advanced rectal cancer in order to identify specific subtypes of the disease that can be treated with immunotherapy with a high probability of achieving clinical complete remission, thereby avoiding potentially risky surgery.
Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker • MSI-H
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MSI (Microsatellite instability)
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MSI-H/dMMR
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Opdivo (nivolumab)
3d
Mapping the landscape of ovarian metastases of gastric cancer: insights, trends, and emerging perspectives. (PubMed, World J Surg Oncol)
Research hotspots include multidisciplinary treatment (MDT), diagnostic tumor markers (e.g., CA125, CA19-9, and carcinoembryonic antigen (CEA)), imaging (e.g., MRI, ultrasound), and novel approaches such as immunotherapy and targeted therapy (Microsatellite Instability-High (MSI - H), Tumor Mutational Burden-High (TMB - H). Future directions call for multicenter clinical trials and interdisciplinary collaboration to improve patient outcomes.
Review • Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CEACAM5 (CEA Cell Adhesion Molecule 5) • MUC16 (Mucin 16, Cell Surface Associated) • CA 19-9 (Cancer antigen 19-9)
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TMB-H • MSI-H/dMMR