ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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35 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours.European journal of human genetics : EJHG · 2026Guideline
- Mismatch repair deficiency, next-generation sequencing-based microsatellite instability, and tumor mutational burden as predictive biomarkers for immune checkpoint inhibitor effectiveness in frontline treatment of advanced stage endometrial cancer.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2023Trial
- Suppression of transcription-replication conflicts by sequence-coordinated actions of TRDMT1 and MutLα.Nature communications · 2026Article
- Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.Targeted oncology · 2026Article
- Low microsatellite instability revisited: a review.Virchows Archiv : an international journal of pathology · 2026Review
- MLH1 Mismatch Repair Deficiency Predicts Exceptional Response to Immune Checkpoint Inhibition in Clear-cell Renal Cell Carcinoma.European urology · 2025Article
- Deciphering mismatch repair protein expression variability in gastric cancer: clinical and prognostic implications.BMC cancer · 2025Article
- Efficacy of immunotherapy in gastrointestinal (GI) tumors with mismatch repair deficient (MMRd) unusual phenotype: an AGEO real-world study.Journal for immunotherapy of cancer · 2025Article
- Response to PD-1 inhibition in MMRd/MSS pancreatic ductal adenocarcinoma: the relevance of parallel testing.Journal of cancer research and clinical oncology · 2025Article
- Validation of Idylla MSI and BRAF genotype tests on archival colorectal cancer samples for retrospective Lynch syndrome detection.Virchows Archiv : an international journal of pathology · 2025Article
- Biomarkers in gastroesophageal cancer 2025: an updated consensus statement by the Spanish Society of Medical Oncology (SEOM) and the Spanish Society of Pathology (SEAP).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Multimodal Preoperative Management of Rectal Cancer: A Review of the Existing Guidelines.Medicina (Kaunas, Lithuania) · 2025Review
- Epidemiology, pathogenesis, biology and evolving management of MSI-H/dMMR cancers.Nature reviews. Clinical oncology · 2025Review
- Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.Scientific reports · 2025Article
- Mismatch repair deficiency and its relationship with histopathological features in gastric cancer patients.Nagoya journal of medical science · 2025Article
- Case Report: A case of synchronous multiple early gastric cancer with a microsatellite instability-high phenotype.Frontiers in oncology · 2025Article
- Association between microsatellite instability status, clinicopathological features and mitochondrial DNA amplification in patients with colorectal cancer.Oncology letters · 2024Article
- [Endometrial carcinoma: molecular classification in routine pathology].Pathologie (Heidelberg, Germany) · 2024Review
- A pilot study on the detection of microsatellite instability using long mononucleotide repeats in solid tumors.Oncology letters · 2024Article
- Comparison of standard mismatch repair deficiency and microsatellite instability tests in a large cancer series.Journal of translational medicine · 2024Article
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18 authors at 5 institutions in 1 country.
Funding
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Abstract
Immunohistochemistry (IHC) and/or MSI-PCR (microsatellite instability-polymerase chain reaction) tests are performed routinely to detect mismatch repair deficiency (MMR-D). Classical MMR-D tumors present a loss of MLH1/PMS2 or MSH2/MSH6 with MSI-High. Other profiles of MMR-D tumors have been described but have been rarely studied. In this study, we established a classification of unusual MMR-D tumors and determined their frequency and clinical impact. All MMR-D tumors identified between 2007 and 2017 were selected. Any profile besides the classical MMR-D phenotype was defined as unusual. For patients with unusual MMR-D tumors, IHC, and PCR data were reviewed, the tumor mutation burden (TMB) was evaluated and clinical and genetic features were collected. Of the 4948 cases of MMR testing, 3800 had both the available IHC and MSI-PCR results and 585 of these had MMR-D. After reviewing the IHC and PCR, 21% of the cases initially identified as unusual MMR-D were reclassified, which resulted in a final identification of 89 unusual MMR-D tumors (15%). Unusual MMR-D tumors were more often associated with non-CRC than classical MMR-D tumors. Unusual MMR-D tumors were classified into four sub-groups: i) isolated loss of PMS2 or MSH6, ii) classical loss of MLH1/PMS2 or MSH2/MSH6 without MSI, iii) four MMR proteins retained with MSI and, iv) complex loss of MMR proteins, with clinical characteristics for each sub-group. TMB-high or -intermediate was shown in 96% of the cancers studied (24/25), which confirmed MMR deficiency. Genetic syndromes were identified in 44.9% (40/89) and 21.4% (106/496) of patients with unusual and classical MMR-D tumors, respectively (P < 0.001). Five patients treated with an immune checkpoint inhibitor (ICI) had a prolonged clinical benefit. Our classification of unusual MMR-D phenotype helps to identify MMR deficiency. Unusual MMR-D phenotype occurs in 15% of MMR-D tumors. A high frequency of genetic syndromes was noted in these patients who could benefit from ICI.
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