ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2021
Immunohistochemical screening for mismatch repair protein deficiency in paediatric high-grade gliomas - institutional experience and review of literature.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 15 citations in OpenAlex.
- Immune checkpoint inhibitors in pediatric central nervous system tumors: biology, clinical experience, and translational pathways to precision immunotherapy.Journal of neuro-oncology · 2026Review
- Pediatric high-grade gliomas, H3-wildtype, IDH-wildtype: Refining diagnostic criteria and exploring clinical associations.Neuro-oncology practice · 2026Article
- Mismatch Repair Deficiency in Gliomas: A Rare Insight into Microsatellite Instability and Its Diagnostic Implications.Asian journal of neurosurgery · 2025Article
- Correlation between Isocitrate Dehydrogenase Mutation and Immunohistochemical Expression of DNA Mismatch Repair Proteins in the Prognosis of Gliomas.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.Acta neuropathologica · 2025Article
- Primary mismatch repair-deficient IDH-mutant astrocytoma in child: Unusual entity.International journal of surgery case reports · 2024Article
- Genetic and epigenetic instability as an underlying driver of progression and aggressive behavior in IDH-mutant astrocytoma.Acta neuropathologica · 2024Review
- Efficacy of Nivolumab in Pediatric Cancers with High Mutation Burden and Mismatch Repair Deficiency.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Using comprehensive genomic and functional analyses for resolving genotype-phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.Human genetics · 2023Article
- Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).Neuropathology and applied neurobiology · 2023Article
- Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.Genes · 2022Article
- An update on central nervous system tumors in germline replication-repair deficiency syndromes.Neuro-oncology advancesReview
- Mismatch repair protein mutations in isocitrate dehydrogenase (IDH)-mutant astrocytoma and IDH-wild-type glioblastoma.Neuro-oncology advancesArticle
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8 authors at 1 institution in 1 country.
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Abstract
purposeImmunohistochemical (IHC) testing for mismatch repair (MMR) deficiency (MMRD) is used as a screening tool to identify microsatellite instability in various cancers (especially colon). This not only identifies hereditary cancer syndromes like Lynch and constitutional mismatch repair deficiency (CMMRD) but also aids in prognostication and prediction of sensitivity to checkpoint inhibitor drugs. There are very few reported studies on MMRD status of pediatric high-grade gliomas (pHGG) and none from the Indian subcontinent. The aim of this study is to evaluate the frequency of MMRD in pHGG and to assess if there is a need for universal screening with immunohistochemistry.
methodsParaffin blocks of consecutive cases of pHGG (< 18 years) were retrieved from 2 centres, and IHC with four MMR antibodies - MLH1, PMS2, MSH2 and MSH6 - was performed using tissue microarray-based technique.
resultsThree out of nine cases (33%) studied showed loss of staining. One case had loss of MSH2 and MSH6 confirmed by gene sequencing. Eight of the cases were glioblastoma. One case of IDH1-mutated anaplastic astrocytoma showed loss of MLH1 and PMS2 staining. Isolated PMS2 loss was noted in 1 case, where the non-tumour cells also showed loss of staining, indicative CMMRD syndrome. This patient had prior colon cancer with isolated PMS2 loss and responded to check-point inhibitor therapy with nivolumab.
conclusionOur study shows that the frequency of MMRD to be about one-third of pHGG. Universal IHC screening for MMRD in all pHGGs may benefit early diagnosis and play a role in therapeutic decisions. A larger multi-institutional study will help better assess the prevalence and treatment implications in MMRD tumours.
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