分子检测在儿科低级别胶质瘤分层中的重要性:一个案例研究

Diagnostic Histopathology Pub Date : 2023-10-14 DOI:10.1016/j.mpdhp.2023.09.005

Clare McGenity, Oleg Anichtchik, Azzam Ismail

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引用次数: 0

摘要

我们讨论一例小儿低级别胶质瘤，综合诊断为弥漫性星形细胞瘤伴MYB或MYBL1改变。手术切除组织显示低级别肿瘤外观，核小而圆，胞浆细。甲基化阵列分析显示MYB或mybl1发生改变。MYB和MYBL1是转录反激活因子，在细胞增殖中起重要作用，其过表达可导致肿瘤形成。由于分子病理学的作用越来越大，儿科低级别胶质瘤的新亚型的诊断现在成为可能。

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Importance of molecular testing in stratification of paediatric low-grade gliomas: a case study

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.

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来源期刊

Diagnostic Histopathology Medicine-Pathology and Forensic Medicine

CiteScore

1.30

自引率

0.00%

发文量

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.