{"title":"Importance of molecular testing in stratification of paediatric low-grade gliomas: a case study","authors":"Clare McGenity, Oleg Anichtchik, Azzam Ismail","doi":"10.1016/j.mpdhp.2023.09.005","DOIUrl":null,"url":null,"abstract":"<div><p><span><span>We discuss a case of a paediatric </span>low grade glioma<span> where the integrated diagnosis was a diffuse astrocytoma with MYB or MYBL1 alteration. Surgical excision of the tissue revealed a low grade tumour appearance with small round nuclei and fine fibrillary cytoplasm. MYB or MYBL1-alteration was shown on </span></span>methylation<span> array analysis. MYB and MYBL1 are transcriptional transactivators that have important roles in cell proliferation<span>, and their overexpression can lead to tumour formation. The diagnosis of novel subtypes of paediatric low-grade gliomas is now possible due to the increasing role of molecular pathology.</span></span></p></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"29 12","pages":"Pages 563-565"},"PeriodicalIF":0.0000,"publicationDate":"2023-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostic Histopathology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1756231723001494","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We discuss a case of a paediatric low grade glioma where the integrated diagnosis was a diffuse astrocytoma with MYB or MYBL1 alteration. Surgical excision of the tissue revealed a low grade tumour appearance with small round nuclei and fine fibrillary cytoplasm. MYB or MYBL1-alteration was shown on methylation array analysis. MYB and MYBL1 are transcriptional transactivators that have important roles in cell proliferation, and their overexpression can lead to tumour formation. The diagnosis of novel subtypes of paediatric low-grade gliomas is now possible due to the increasing role of molecular pathology.
期刊介绍：
This monthly review journal aims to provide the practising diagnostic pathologist and trainee pathologist with up-to-date reviews on histopathology and cytology and related technical advances. Each issue contains invited articles on a variety of topics from experts in the field and includes a mini-symposium exploring one subject in greater depth. Articles consist of system-based, disease-based reviews and advances in technology. They update the readers on day-to-day diagnostic work and keep them informed of important new developments. An additional feature is the short section devoted to hypotheses; these have been refereed. There is also a correspondence section.
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