"Several genetic mutations were recognised in low-grade IDH-wt/H3-wt brain diffuse gliomas occurring in children and adolescents, such as BRAF V600E mutation, FGFR alteration, and MYB/MYBL1 arrangement 2-7. Except for the last, all the above-mentioned mutations determine a direct up-regulation of the RAS/MAPK pathway and therefore these low-grade gliomas are likely expressions of a "one-pathway disease" 7. Moreover, it is important to emphasise that many other genetic alterations, such as NF1 tumour suppressor gene mutation, affect the RAS/MAPK pathway 7. Therefore in 2019, the cIMPACT-now committee proposed to classify and distinguish low-grade paediatric diffuse gliomas on the basis of these genetic mutations 8."
"The term diffuse low-grade glioma MAPK pathway-altered encompasses a broad spectrum of histological features, including astrocytic, oligodendroglial, or mixed morphology 1, 7. Therefore, the correct identification of diffuse low-grade glioma MAPK pathway-altered requires molecular characterisation and in particular the detection of BRAF or FGFR mutations 1, 7."
"Several genetic mutations were recognised in low-grade IDH-wt/H3-wt brain diffuse gliomas occurring in children and adolescents, such as BRAF V600E mutation, FGFR alteration, and MYB/MYBL1 arrangement 2-7. Except for the last, all the above-mentioned mutations determine a direct up-regulation of the RAS/MAPK pathway and therefore these low-grade gliomas are likely expressions of a "one-pathway disease" 7. Moreover, it is important to emphasise that many other genetic alterations, such as NF1 tumour suppressor gene mutation, affect the RAS/MAPK pathway 7. Therefore in 2019, the cIMPACT-now committee proposed to classify and distinguish low-grade paediatric diffuse gliomas on the basis of these genetic mutations 8."
"Several genetic mutations were recognised in low-grade IDH-wt/H3-wt brain diffuse gliomas occurring in children and adolescents, such as BRAF V600E mutation, FGFR alteration, and MYB/MYBL1 arrangement 2-7. Except for the last, all the above-mentioned mutations determine a direct up-regulation of the RAS/MAPK pathway and therefore these low-grade gliomas are likely expressions of a "one-pathway disease" 7. Moreover, it is important to emphasise that many other genetic alterations, such as NF1 tumour suppressor gene mutation, affect the RAS/MAPK pathway 7. Therefore in 2019, the cIMPACT-now committee proposed to classify and distinguish low-grade paediatric diffuse gliomas on the basis of these genetic mutations 8."
"At the time of writing (c. 2022), there are few published radiological descriptions of brain tumours specifically falling into the category of diffuse low-grade gliomas MAPK pathway-altered. In general, it is possible to assume that their appearance is similar to the other diffuse low-grade gliomas belonging to the same family. It may appear as a heterogenous enhancing mass with cystic changes 9."
Expected headings
"Radiologic features"