ArticleJournal for immunotherapy of cancer2019
Treatment with checkpoint inhibitors in a metastatic colorectal cancer patient with molecular and immunohistochemical heterogeneity in MSI/dMMR status.
Article in Journal for immunotherapy of cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 35 citations in OpenAlex.
- Current Status of the Diagnosis and Treatment of Mismatch Repair Deficient Colorectal Cancer.Biomedicines · 2026Review
- Mismatch Repair as a Dynamic and Clinically Actionable Vulnerability in Cancer.Cancer research · 2025Review
- Navigating the Landscape of Liquid Biopsy in Colorectal Cancer: Current Insights and Future Directions.International journal of molecular sciences · 2025Review
- Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy.Pathologica · 2025Review
- DNA repair-dependent immunogenic liabilities in colorectal cancer: opportunities from errors.British journal of cancer · 2024Review
- Prevalence and type of MMR expression heterogeneity in colorectal adenocarcinoma: therapeutic implications and reporting.Virchows Archiv : an international journal of pathology · 2024Article
- Resistance to immune checkpoint inhibitors in colorectal cancer with deficient mismatch repair/microsatellite instability: misdiagnosis, pseudoprogression and/or tumor heterogeneity?Exploration of targeted anti-tumor therapy · 2024Review
- Evaluating mismatch repair deficiency in colorectal cancer biopsy specimens.Histochemistry and cell biology · 2023Article
- Outcomes and a prognostic classifier in patients with microsatellite instability-high metastatic gastric cancer receiving PD-1 blockade.Journal for immunotherapy of cancer · 2023Article
- Harnessing the therapeutic vulnerability of MMR heterogeneity in colorectal cancer.Cell reports. Medicine · 2023Article
- Genetic and pharmacological modulation of DNA mismatch repair heterogeneous tumors promotes immune surveillance.Cancer cell · 2023Article
- Cholesterol in colorectal cancer: an essential but tumorigenic precursor?Frontiers in oncology · 2023Review
- Locally advanced rectal cancer patients with mismatch repair protein deficiency can obtain better pathological response after regional chemoembolization.Frontiers in oncology · 2023Article
- PD-1 inhibitor treatment in a penile cancer patient with MMR/MSI status heterogeneity: A case report.Human vaccines & immunotherapeutics · 2022Article
- Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.Virchows Archiv : an international journal of pathology · 2022Article
- Correlation of mismatch repair deficiency with clinicopathological features and programmed death-ligand 1 expression in thyroid carcinoma.Endocrine · 2022Article
- Complete pathological response of colorectal peritoneal metastases in Lynch syndrome after immunotherapy case report: is a paradigm shift in cytoreductive surgery needed?BMC gastroenterology · 2022Article
- Microsatellite Instable Colorectal Adenocarcinoma Diagnostics: The Advent of Liquid Biopsy Approaches.Frontiers in oncology · 2022Review
- Review
- The Mechanisms Leading to Distinct Responses to PD-1/PD-L1 Blockades in Colorectal Cancers With Different MSI Statuses.Frontiers in oncology · 2021Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAnalysis of deficiency in DNA mismatch repair (dMMR) is currently considered a standard molecular test in all patients with colorectal cancer (CRC) for its implications in screening, prognosis and prediction of benefit from immune checkpoint inhibitors. While the molecular heterogeneity of CRC has been extensively studied in recent years, specific data on dMMR status are lacking, and its clinical consequences are unknown. CASE PRESENTATION: We report the case of a metastatic CRC (mCRC) patient with immunohistochemical and molecular heterogeneity in dMMR/microsatellite instability status in the primary tumour. The patient was treated with nivolumab plus ipilimumab and achieved a deep and lasting response with clear clinical benefit. Whole-exome sequencing and RNA-seq data are reported to support the evidence for molecular heterogeneity. Re-biopsy at the time of progression ruled out the selection of MMR proficient clones as an escape mechanism. A large single-institution retrospective dataset was interrogated to further explore the real incidence of heterogeneity in its different presentations.
conclusionsThe present case supports the efficacy of immune checkpoint inhibition in mCRC with heterogeneity in MMR/microsatellite instability status. Clinical issues that may arise in these rare patients are discussed in detail.
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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.