ArticleNeuro-oncology advances
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Article in Neuro-oncology advances. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled it
- Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.European journal of human genetics : EJHG · 2026Trial
- Characterisation of a Portuguese origin founder missense variant in MSH6.European journal of human genetics : EJHG · 2026Article
- Rare solid tumours as indicators of hereditary cancer syndromes.European journal of human genetics : EJHG · 2026Review
- The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments.Familial cancer · 2026Review
- Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas.iScience · 2026Article
- Pediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working group.Neuro-oncology practice · 2026Article
- Report from the National Pediatric Cancer Foundation - infantile glioma and other non-embryonal central nervous system tumors: evolving molecular advances and current treatment landscape.Frontiers in oncology · 2026Review
- Article
- Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management.Journal of Korean Neurosurgical Society · 2025Article
- Synchronous childhood T-lymphoblastic lymphoma and B-cell precursor acute lymphoblastic leukemia associated with constitutional MMR deficiency syndrome -a case report.Frontiers in oncology · 2025Article
- Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.European radiology · 2024Article
- Report of the sixth meeting of the European Consortium 'Care for CMMRD' (CFamilial cancer · 2024Article
- Primary mismatch repair-deficient IDH-mutant astrocytoma in child: Unusual entity.International journal of surgery case reports · 2024Article
- Article
- Genetic and epigenetic instability as an underlying driver of progression and aggressive behavior in IDH-mutant astrocytoma.Acta neuropathologica · 2024Review
- Glioma.Nature reviews. Disease primers · 2024Review
- Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.Journal of medical genetics · 2024Article
- Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?Frontiers in molecular neuroscience · 2024Review
- Therapeutically targeting the unique disease landscape of pediatric high-grade gliomas.Frontiers in oncology · 2024Review
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Authors and funding
20 authors at 14 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMalignant brain tumors (BT) are among the cancers most frequently associated with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations in mismatch repair genes. This study analyzed data from the European "Care for CMMRD" (C4CMMRD) database to describe their clinical characteristics, treatments, and outcome with the aim of improving its diagnosis/treatment.
methodsRetrospective analysis of data on patients with CMMRD and malignant BT from the C4CMMRD database up to July 2017.
resultsAmong the 87 registered patients, 49 developed 56 malignant BTs: 50 high-grade gliomas (HGG) (with giant multinucleated cells in 16/21 histologically reviewed tumors) and 6 embryonal tumors. The median age at first BT was 9.2 years [1.1-40.6], with nine patients older than 18. Twenty-seven patients developed multiple malignancies (including16 before the BT). Most patients received standard treatment, and eight patients immunotherapy for relapsed HGG. The 3- and 5-year overall survival (OS) rates were 30% (95% CI: 19-45) and 22% (95% CI: 12-37) after the first BT, with worse prognosis for HGG (3-year OS = 20.5%). Six patients were alive (median follow-up 2.5 years) and 43 dead (38 deaths, 88%, were BT-related). Other CMMRD-specific features were café-au-lait macules (40/41), multiple BTs (5/15), developmental brain anomalies (11/15), and consanguinity (20/38 families).
conclusionsSeveral characteristics could help suspecting CMMRD in pediatric malignant BTs: giant cells on histology, previous malignancies, parental consanguinity, café-au-lait macules, multiple BTs, and developmental brain anomalies. The prognosis of CMMRD-associated BT treated with standard therapies is poor requiring new therapeutic up-front approaches.
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