Molecular Pathology of Gliomas

被引：30

作者：

Galbraith, Kristyn ^{[1
]}

Snuderl, Matija ^{[1
]}

机构：

[1] NYU Langone Med Ctr, Dept Pathol, 240 East 38th St,22nd Floor, New York, NY 10016 USA

来源：

CLINICS IN LABORATORY MEDICINE | 2024年 / 44卷 / 02期

关键词：

IDH1/2; mutation; ATRX mutation; Histone H3 K27M mutation; 1p19q loss; BRAF fusion; BRAF V600E mutation; GENOMIC ANALYSIS; HISTONE H3.3; MUTANT IDH1; MUTATIONS; GRADE; ASTROCYTOMA; GENES; OLIGODENDROGLIOMA; CLASSIFICATION; AMPLIFICATION;

D O I：

10.1016/j.cll.2023.08.009

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Gliomas represent histologically and molecularly a diverse group of tumors. Although classification still is largely based on histology, molecular features are changing the practice of medicine. The discovery of IDH1/2 mutations and association with ATRX mutations and loss of 1p19q in astrocytoma and oligodendroglioma, respectively, and the definition of molecular IDH-wild-type GBM have dramatically changed the practice of neuropathology and WHO classification and markedly decreased the number of inconclusive diagnoses. Identifying BRAF gene fusions and mutations in lowgrade gliomas and histone H3 mutations in high-grade gliomas can be used for diagnostics when histology is inconclusive. In addition, BRAF alterations represent a promising therapeutic target.

引用

页码：149 / 159

页数：11

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