SynthesisHistopathology2021
Mismatch repair deficiency is rare in bone and soft tissue tumors.
Synthesis in Histopathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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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
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Mismatch repair deficiency is rare in bone and soft tissue tumors.Histopathology · 2021Pooled it
- Trial
- Review
- Neovascular prostate specific membrane antigen (PSMA) expression in bone and soft tissue sarcoma: a systematic analysis.Virchows Archiv : an international journal of pathology · 2025Article
- Microsatellite instability and PD-L1 expression in sarcomas: current evidence and clinical perspectives.Medical oncology (Northwood, London, England) · 2025Review
- Prioritization of novel agents for further investigation in pediatric non-rhabdomyosarcoma soft tissue sarcomas: A report from the Children's Oncology Group.European journal of cancer (Oxford, England : 1990) · 2025Review
- Undifferentiated Pleomorphic Sarcoma in Children and Young Adults: A Comprehensive Clinicopathologic, Genomic, and Epigenetic Comparison With Adult Counterparts.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Article
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Next-generation sequencing-based genomic profiling of advanced soft tissue and bone sarcomas.Frontiers in oncology · 2025Article
- Whole-Exome Analysis and Osteosarcoma: A Game Still Open.International journal of molecular sciences · 2024Review
- DNA Mismatch Repair Deficiency as a Biomarker in Sarcoma.Surgical oncology insight · 2024Article
- Osteosarcoma and Langerhans Cell Histiocytosis in a Pediatric Patient with Lynch Syndrome: A Case Report.JBJS case connector · 2024Article
- Multimodal profiling of chordoma immunity reveals distinct immune contextures.Journal for immunotherapy of cancer · 2024Article
- Clinico-Pathological Spectrum of Alveolar Soft Part Sarcoma: Case Series from a Tertiary Care Cancer Referral Centre in India with a Focus on Unusual Clinical and Histological Features.Turk patoloji dergisi · 2024Article
- Article
- Biomarkers for immune checkpoint inhibition in sarcomas - are we close to clinical implementation?Biomarker research · 2023Review
- Metastatic Malignant Perivascular Epithelioid Cell Tumors With Microsatellite Instability Within Lynch Syndrome Successfully Treated With Anti-PD1 Pembrolizumab.JCO precision oncology · 2023Article
- Soft Tissue Leiomyosarcoma With Microsatellite Instability, High Tumor Mutational Burden, and Programmed Death Ligand-1 Expression Showing Pathologic Complete Response to Pembrolizumab: A Case Report.JCO precision oncology · 2022Article
- Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
introductionThere has been an increased demand for mismatch repair (MMR) status testing in sarcoma patients after the success of immune checkpoint inhibition (ICI) in MMR deficient tumors. However, data on MMR deficiency in bone and soft tissue tumors is sparse, rendering it unclear if routine screening should be applied. Hence, we aimed to study the frequency of MMR deficiency in bone and soft tissue tumors after we were prompted by two (potential) Lynch syndrome patients developing sarcomas.
methodsImmunohistochemical expression of MLH1, PMS2, MSH2 and MSH6 was assessed on tissue micro arrays (TMAs), and included 353 bone and 539 soft tissue tumors. Molecular data was either retrieved from reports or microsatellite instability (MSI) analysis was performed. In MLH1 negative cases, additional MLH1 promoter hypermethylation analysis followed. Furthermore, a systematic literature review on MMR deficiency in bone and soft tissue tumors was conducted.
resultsEight MMR deficient tumors were identified (1%), which included four leiomyosarcoma, two rhabdomyosarcoma, one malignant peripheral nerve sheath tumor and one radiation-associated sarcoma. Three patients were suspected for Lynch syndrome. Literature review revealed 30 MMR deficient sarcomas, of which 33% were undifferentiated/unclassifiable sarcomas. 57% of the patients were genetically predisposed.
conclusionMMR deficiency is rare in bone and soft tissue tumors. Screening focusing on tumors with myogenic differentiation, undifferentiated/unclassifiable sarcomas and in patients with a genetic predisposition / co-occurrence of other malignancies can be helpful in identifying patients potentially eligible for ICI.
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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.