Diffuse astrocytoma IDH-mutant

Case contributed by RMH Neuropathology

Presentation

Aortic valve replacement on warfarin. One episode of seizure/syncope with the loss of consciousness +/- head strike. No focal neurology.

Patient Data

Age: 50 years
Gender: Male
CT

CT Brain

There is a well-defined hypodense lesion centred on the right insular cortex extending into the right frontal and temporal lobes. It does not demonstrate any ring enhancement post contrast administration nor is there any identifiable contrast enhancing component elsewhere in the lesion. The lesion exerts mass effect, with partial effacement of the right lateral ventricle and midline shift of 2 mm to the left as measured at the septum pellucidum. A small peripheral hypodense cortical component extends into the inferior aspect of the right frontal lobe. No vascular malformation associated with the lesion.

No acute intracranial haemorrhage or acute cortical infarct. No acute calvarial fracture. The mastoid air cells and paranasal sinuses are aerated.

Impression: Right insular/frontal/temporal non-enhancing hypodense lesion exerting mild local mass-effect. Appearances favour low-grade tumour and MRI is suggested to further characterise.

MRI

MRI Brain

There is a large intra-axial mass in the right insula extending anteriorly into the frontal operculum and inferiorly into the temporal lobe close to the amygdala. A small component extends inferolaterally to involve the right lateral orbital gyrus. This is joined to the main bulk of tumour by a small area of abnormal FLAIR hyperintense cortex via the inferior frontal gyrus.

There is extensive involvement of grey matter with gyral expansion in the insula and frontal lobe. The tumour is well circumscribed, brightly T2 and FLAIR hyperintense with a few small foci of FLAIR suppression.

There is very subtle wispy contrast enhancement in the mass.

No abnormal elevation of relative cerebral blood volume (CBV). MR spectroscopy is non-contributory.

No abnormal susceptibility related signal loss. No abnormal diffusion restriction.

Tumour exerts mass effect on the superior temporal gyrus and causes partial effacement of the right sylvian fissure and 2.5 cm of midline shift to the left.

Conclusion: Large intra-axial tumour centred in right insula. Appearance most in keeping with of low-grade glioma. Foci of FLAIR suppression, wispy contrast enhancement, and cortical involvement suggest protoplasmic or oligodendroglial components.

Pathology

MICROSCOPIC DESCRIPTION: Sections show a moderately cellular tumour composed of glial cells with round-to-oval nuclei, smooth chromatin and inconspicuous nucleoli. No necrosis or microvascular proliferation is seen. No mitoses are identified.Immunohistochemistry results show tumour cells stain:

  • GFAP Positive
  • Nestin Positive (low)
  • IDH-1 R132H Positive (mutated)
  • ATRX Negative (mutated)
  • MGMT Negative (likely methylated)
  • NogoA Positive (focal)
  • p53 Positive
  • p16 CDKN2A Positive

Topoisomerase labelling index: Approximately <5%.

The features are of low-grade diffuse astrocytoma, WHO grade II.

DIAGNOSIS: diffuse astrocytoma, WHO grade II.

 

SUPPLEMENTARY REPORT:

FISH for chromosome 1p/19q deletion.

1p36: NO DELETION DETECTED

19q13.3: NO DELETION DETECTED

Case Discussion

This case demonstrates a confirmed case of a low-grade diffuse astrocytoma, which is a well-differentiated but infiltrating tumour. 

This tumour is: 

  • IDH-1 positive (mutated) = better prognosis
  • 1p19q not codeleted

 

PlayAdd to Share

Case information

rID: 41308
Case created: 25th Nov 2015
Last edited: 15th Jun 2017
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.