Immunohistochemical screening for mismatch repair protein deficiency in paediatric high-grade gliomas - institutional experience and review of literature
| Autor: | Uttara Chatterjee, Angad Singh, Rimpa Basu Achari, Sheena Alphones, Anirban Das, Paromita Roy, Arpita Bhattacharya, Lateef Zameer |
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| Rok vydání: | 2020 |
| Předmět: |
Oncology
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Colorectal cancer MLH1 DNA Mismatch Repair 03 medical and health sciences 0302 clinical medicine Internal medicine Protein Deficiency medicine PMS2 Humans Mismatch Repair Endonuclease PMS2 Tissue microarray business.industry Microsatellite instability General Medicine medicine.disease digestive system diseases MSH6 MSH2 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Neurology (clinical) business Colorectal Neoplasms Glioblastoma 030217 neurology & neurosurgery Anaplastic astrocytoma |
| Zdroj: | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 37(8) |
| ISSN: | 1433-0350 |
| Popis: | Immunohistochemical (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. Paraffin blocks of consecutive cases of pHGG ( |
| Databáze: | OpenAIRE |
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