Hi -
My friend was told she has GBM. Here are the results of her biopsy:
NEUROPATHOLOGICAL DIAGNOSIS:
Left occipital mass: stereotactic biopsy:
Integrated diagnosis: GLIOBLASTOMA, IDH WILD TYPE, WHO
GRADE IV
Histological classification: GLIOBLASTOMA
WHO grade: WHO GRADE IV
Molecular information:
* IDH: MUTATION NOT IDENTIFIED BY IDH1/2 SEQUENCING
(EXON 4)
* ATRX: RETAINED NUCLEAR IMMUNOREACTIVITY
* p53: LOW IMMUNOREACTIVITY,
<10% OF NEOPLASTIC CELLS
* 1p/19q: RETAINED BY FLUORESCENCE IN SITU
HYBRIDIZATION
* MGMT: GENE METHYLATION NOT DETECTED
I'm out of practice on everything except MGMT. Can someone please help me understand what else this tells us, and what drugs this may prioritize for her? She's not as willing to take lots and lots of pills as my Dad was. I would like to pick maybe the top 5 if we can.
Thank you!
Annie
Most of these tests simply rule out that it isn't an IDH1-mutant lower grade glioma, but they don't provide much insight beyond that.
ReplyDeleteATRX loss is mostly seen in IDH1 mutant astrocytomas or some types of pediatric gliomas, and was not seen here, as we'd expect.
The low expression of p53 means there's not likely a TP53 mutation.
1p/19q retained simply means there's no 1p/19q codeletion. That is an alteration almost exclusively seen in IDH-mutant oligodendrogliomas.
A more important test for GBM would be EGFR amplification and EGFRvIII mutation, which aren't among the results listed. These tests would be more informative for designing a cocktail, for example chloroquine is likely more effective in EGFR amplified and EGFRvIII positive tumors.