Astrocytyoma IDH-mutant - WHO grade 2

Case contributed by Frank Gaillard
Diagnosis certain

Presentation

Seizure.

Patient Data

Age: 25 years
Gender: Male

A fairly well-circumscribed high T2 signal mass in the right frontal lobe demonstrates substantial FLAIR partial suppression (T2 FLAIR mismatch). Peripherally it has a high FLAIR signal rim. It has low T1 signal without contrast enhancement. The mass generally has very facilitated diffusion on ADC and low rCBV. Spectroscopy demonstrates elevated choline and myoinositol peaks and depression of NAA.

Conclusion

Appearances are those of an adult-type diffuse glioma. In this age group, IDH mutations are very common and the presence of partial FLAIR suppression strongly favors this tumor to be an astrocytoma IDH mutant, most likely WHO grade 2, as there are no higher grade features.

Case Discussion

The patient went on to have a resection.

Histology

Sections of cerebral cortex and white matter show a cellular tumor with a loose fibrillary background with occasional microcyst. Tumor cells have angulated to ovoid hyperchromatic nuclei. Occasional gemistocytic forms are present. Mitoses are rare. Necrosis and microvascular proliferation are not present.

Immunohistochemistry

  • GFAP: Positive

  • OLIG2: Positive

  • IDH-1 R132H: Positive (mutated)

  • ATRX: Lost (mutated)

  • p53: Positive

  • p16 CDKN2A: Patchy staining

  • MTAP: Intact

  • Ki67: Less than 10%

Final diagnosis

Astrocytoma, IDH-mutant, CNS WHO grade 2.

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