Diffuse midline glioma H3-K27M-mutant

Case contributed by Jeremy Jones
Diagnosis certain

Presentation

Headache and altered gait.

Patient Data

Age: 16 years
Gender: Male

Brainstem lesion centered on the pons. Ventral, bilateral, symmetric and engulfing basilar artery. No post-contrast enhancement. Extension cranially into the cerebral peduncles (left greater than right) and involvement of the left thalamus.

No spinal disease.

Pathology report conclusion

The appearances are of a diffuse midline glioma H3K27M mutant. Previously these tumor were known as diffuse intrinsic pontine glioma.

Case Discussion

Appearances of the pons are typical for a diffuse midline glioma (previously called diffuse intrinsic pontine glioma). This case demonstrates the reason for the change in naming convention - the involvement of additional structures, in this case, thalamus.

The vast majority of cases will have mutation H3 K27M which was confirmed in this case following a biopsy.

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