ArticleEuropean journal of human genetics : EJHG2009
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled it
- Unveiling MMR deficiency in pediatric and AYA high-grade gliomas: insights from multiomic profiling.Journal of neuro-oncology · 2025Article
- Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.Laboratory investigation; a journal of technical methods and pathology · 2022Article
- Article
- Immunohistochemical screening for mismatch repair protein deficiency in paediatric high-grade gliomas - institutional experience and review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.International journal of molecular sciences · 2021Review
- Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.Frontiers in oncology · 2020Review
- Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies.Oncotarget · 2018Review
- MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.Epigenetics · 2014Article
- Chemotherapy induced microsatellite instability and loss of heterozygosity in chromosomes 2, 5, 10, and 17 in solid tumor patients.Cancer cell international · 2014Article
- Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.British journal of cancer · 2013Article
- Recurrent and founder mutations in the PMS2 gene.Clinical genetics · 2013Article
- MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.PLoS genetics · 2013Article
- Microsatellite instability in pediatric high grade glioma is associated with genomic profile and differential target gene inactivation.PloS one · 2011Article
- Constitutional mismatch repair-deficiency syndrome.Haematologica · 2010Article
- Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.Neuro-oncology advancesArticle
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microsatellite instability (MSI) is present in hereditary conditions due to mismatch repair (MMR) gene mutations. Following MSI analysis, tumor samples are classified into MSS (stable), MSI-L (low instability), and MSI-H (high instability) based on the fraction of unstable loci. Another MSI-based classification takes into account the size difference between mutant alleles in tumor DNA compared to wild-type alleles; two types of MSI, A and B, are recognized using this approach, type A being characterized by smaller, more subtle allelic shifts compared to type B. Biallelic mutations of MMR genes are associated with pediatric cancers, including glial tumors, in Turcot syndrome type 1 (TS1). However, most TS1-associated gliomas so far analyzed did not display MSI. We investigated the frequency of MSI in a series of 34 pediatric gliomas of different grade using a panel of five mononucleotide quasimonomorphic markers. Subtle qualitative changes were observed for the majority of markers in two glioblastomas (5.9% of the total series and 33.3% of glioblastomas). In both cases, family histories were compatible with TS1, and mutations of the PMS2 and MLH1 genes were identified. In one family, the MSI patterns were compared between the glioblastoma and a colon cancer from an affected relative, showing a clear qualitative difference, with the former displaying type A and the latter type B instability, respectively. These results were confirmed using additional microsatellite markers, indicating that knowledge of the association between TS1-related glial tumors and subtle type A MSI is important for full ascertainment of TS1 patients and appropriate counselling.
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