Table 5 The histologically and genetically confusing cases with DNA methylation profiling, which are TP53-mutant oligodendrogliomas and 1p/19q-deleted astrocytoma, IDH-mutant.
Case | O_IDH_mut_#24 (52y/male) | O_IDH_mut_#26 (52y/male) | A_IDH_mut_#62 (58y/male) |
|---|---|---|---|
Pathol Dx | Oligodendroglioma | Oligodendroglioma | Astrocytoma, IDH-mutant |
Site | Left frontal | Right frontal | Right temporooccipital |
Histopathology | Oligodendroglioma-like, with ambiguous area | Oligodendroglioma-like, with ambiguous area | Initially astrocytic, ambiguous in recurrent tumor |
Grade | 3 | 3 | 3 |
IDH | R132H (40.1%) | R132H (51.5%) | R132H (40.6%) |
TP53 | p.Tyr205His, c.613 T > C (VAF: 10.4%), pathogenic | p.Arg175His, c.524G > A (VAF: 26.1%), pathogenic | p.Glu224*, c.670G > T (VAF: 85.7%), pathogenic |
1p/19q | codeletion | codeletion | codeletion |
TERTp | C228T (42.4%) | C250T (45.5%) | C228T (55.56%) |
ATRX | No mutation | No mutation | No mutation |
CIC | p.Arg1124Trp, c.3370C > T (85.1%): Likely pathogenic (ClinVar) | p.His264Arg, c.791A > G (83.%): Likely pathogenic | |
FUBP1 | splicing, c.1105-1G > A (36.8%): Likely pathogenic, splicing c.1247-1G > A (31.3%): Likely pathogenic | X | X |
Additional CNV | 4, 9, 14, 18 deletion | X | 11 gain, 9p/18/22 deletion |
MGMTp | Methylated | Methylated | Methylated |
MC v11b4 | O_IDHm: 0.98853 (match) | O_IDHm: 0.79244 (match) | O_IDHm: 0.75304 (match) |
A_IDHm_HG: 0.00461 (no match) | A_IDHm_HG: 0.08600 (no match) | A_IDHm_HG: 0.16219 (no match) | |
MC v12.5 | O_IDHm: 0.97911 (match) | O_IDHm: 0.78328 (match) | A_IDHm_HG: 0.83527 (match) |
A_IDHm_LG: 0.01109 (no match) | A_IDHm_HG: 0.15094 (no match) | O_IDHm: 0.06456 (no match) | |
Conclusion | O_IDHm | O_IDHm | A_IDHm_HG_1p/19q codeletion |
Recurrence | No recur | No recur | 2 times |
Outcome | Survived in 38 months | DOD in 35 months | Survived in 84 months |
