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Extensive signal change (low T1/high T2) without enhancement is seen extending from the left temporal lobe, back towards the parietal and occipital lobe and then across the splenium of the corpus callosum into the right hemisphere. No diffusion restriction or increased perfusion. Spectroscopy traces within demonstrate elevated choline to creatine ratio, depressed NAA and elevated myoinositol.
Conclusion: low-grade glioma with gliomatosis cerebri growth pattern.
The patient went on to have a biopsy.
The sections show a mild increase in cellularity in the white matter. Scattered astrocytes show focal crowding and uneven distribution. These cells are atypical with mildly enlarged and hyperchromatic nuclei. Mitoses are inconspicuous. No microvascular proliferation or necrosis is present. There is no oligodendroglial component. Scattered cells are p53 positive. The topoisomerase index is 1%. I
- ATRX shows no loss of staining (non-mutated)
- MGMT is focally positive (likely unmethylated)
- IDH-1 R132H immunostain is negative
- IDH1 and IDH2 mutation status:
- Method: Codon 132 of the IDH1 gene and codon 172 of the IDH2 gene are amplified and sequenced by pyrosequencing
- Results: IDH1 and IDH2: No mutation detected
The features are those of diffuse astrocytoma.
Diffuse astrocytoma (WHO Grade II) - gliomatosis growth pattern.
It is important to note that as of the 2016 revision of the WHO classification of CNS tumors, gliomatosis cerebri no longer is recognized as a diagnosis, but rather has been relegated to a growth pattern.
Interestingly, as is in this case, IDH mutations are usually absent 1.
- 1. David N. Louis, Hiroko Ohgaki, Otmar D. Wiestler and Wbster K. Cavenee. International Agency for Research on Cancer, WHO Classification of Tumours of the Central Nervous System. 2016 Revision ISBN: 9789283244929