"Clinical presentation "
"Usually, the tumour is homogeneous pre-treatment, however, in a minority of patients areas of necrosis may be present."
"enhancement can be seen post-radiotherapy"
"T1: hypointense"
"T2: "
"T1 C+ (Gd): "
"DWI/ADC:"
"T2*/SWI: areas of marked hypointensity/blooming in cases of intralesional haemorrhage 5"
"Diffuse midline glioma, H3 K27-altered is a specific entity that represents the majority of diffuse intrinsic pontine gliomas, although identical tumours are also found elsewhere in the midline (e.g. brainstem, spinal cord and thalamus) 1. They are aggressive tumours with a poor prognosis and are considered WHO grade 4 tumours regardless of histological features 1,3,4."
"GFAP: variable"
"Importantly, unlike adult diffuse gliomas, mutations of IDH, CDKN2A and/or CDKN2B deletions, TERT promoter mutations, and MGMT promoter methylation are rare in diffuse midline gliomas, H3 K27-altered 4."
"NeuN: negative"
"These mutations are in the histone H3F3A gene (K27M mutations) or less frequently HIST1H3B and HIST2H3C genes 2,3."
Expected headings
"Clinical presentation "
"The clinical presentation depends upon the location of the tumour. Typically patients with brainstem tumours present with multiple cranial nerve palsies, depending on the location of the tumour, and signs of raised intracranial pressure. Cerebellar signs may also be elicited including ataxia, dysarthria, nystagmus and sleep apnoea."
"Importantly, unlike adult diffuse gliomas, mutations of IDH, CDKN2A and/or CDKN2B deletions, TERT promoter mutations, and MGMT promoter methylation are rare in diffuse midline gliomas, H3 K27-altered 4."