| Case . | Integrated diagnosis (grade) . | Pathological diagnosis . | Molecular diagnosis . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Histology . | p16 (score) . | MTAP . | IDH1 (VAF, %) . | 1p/19q codel . | pTERT . | CDKN2A/B status . | CDKN2A methylation (M/U) . | Others . | ||
| 1 | Astrocytoma, IDH-mut. (4) | AA | Negative (0) | Loss | R132H (47.0) | − | Wt | Homo | — | |
| 2 | Astrocytoma, IDH-mut. (4) b | DA | Negative (0) | Loss | R132H (22.9) | − | Wt | Homo | — | TP53 hemi |
| 3 | Astrocytoma, IDH-mut. (4) | OD | N/A | N/A | R132H (49.1) | − | Wt | Homo | — | EGFR gain, CDK4 gain |
| 4 | Astrocytoma, IDH-mut. (3) | AA | Negative (0) | Retain | R132H (43.4) | − | Wt | Hemi | M | |
| 5 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (36.7) | − | Wt | Hemi | M | EGFR gain |
| 6 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.3) | − | Wt | Hemi | U | PDGFRA amp |
| 7 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.8) | − | Wt | Hemi | U | |
| 8 | Astrocytoma, IDH-mut. (2) | OA | Negative (1) | Retain | R132H (28.5) | − | Wt | Hemi | U | TP53 hemi |
| 9 | Astrocytoma, IDH-mut. (2) | OA | Negative (0) | Retain | R132H (41.5) | − | Wt | Hemi | M | TP53 hemi |
| 10 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (44.5) | − | Wt | Hemi | M | |
| 11 | Astrocytoma, IDH-mut. (2) | DA | Negative† (1†) | Retain | R132H (40.5) | − | Wt | Hemi | M | |
| 12 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (52.0) | − | Wt | Hemi | M | TP53 homo |
| 13 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (0) | Loss | R132H (32.7) | + | C228T | Homo | — | |
| 14 | Oligodendroglioma, IDH-mut. (3) | AO | N/A | N/A | R132H (44.0) | + | C250T | Hemi | M | EGFR gain |
| 15 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (1) | Retain | R132H (57.8) | + | C228T | Hemi | U | EGFR gain, TP53 hemi |
| 16 | Oligodendroglioma, IDH-mut. (3) | AOA | Negative (1) | Retain | R132H (47.6) | + | C228T | Hemi | M | TP53 hemi |
| Case . | Integrated diagnosis (grade) . | Pathological diagnosis . | Molecular diagnosis . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Histology . | p16 (score) . | MTAP . | IDH1 (VAF, %) . | 1p/19q codel . | pTERT . | CDKN2A/B status . | CDKN2A methylation (M/U) . | Others . | ||
| 1 | Astrocytoma, IDH-mut. (4) | AA | Negative (0) | Loss | R132H (47.0) | − | Wt | Homo | — | |
| 2 | Astrocytoma, IDH-mut. (4) b | DA | Negative (0) | Loss | R132H (22.9) | − | Wt | Homo | — | TP53 hemi |
| 3 | Astrocytoma, IDH-mut. (4) | OD | N/A | N/A | R132H (49.1) | − | Wt | Homo | — | EGFR gain, CDK4 gain |
| 4 | Astrocytoma, IDH-mut. (3) | AA | Negative (0) | Retain | R132H (43.4) | − | Wt | Hemi | M | |
| 5 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (36.7) | − | Wt | Hemi | M | EGFR gain |
| 6 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.3) | − | Wt | Hemi | U | PDGFRA amp |
| 7 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.8) | − | Wt | Hemi | U | |
| 8 | Astrocytoma, IDH-mut. (2) | OA | Negative (1) | Retain | R132H (28.5) | − | Wt | Hemi | U | TP53 hemi |
| 9 | Astrocytoma, IDH-mut. (2) | OA | Negative (0) | Retain | R132H (41.5) | − | Wt | Hemi | M | TP53 hemi |
| 10 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (44.5) | − | Wt | Hemi | M | |
| 11 | Astrocytoma, IDH-mut. (2) | DA | Negative† (1†) | Retain | R132H (40.5) | − | Wt | Hemi | M | |
| 12 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (52.0) | − | Wt | Hemi | M | TP53 homo |
| 13 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (0) | Loss | R132H (32.7) | + | C228T | Homo | — | |
| 14 | Oligodendroglioma, IDH-mut. (3) | AO | N/A | N/A | R132H (44.0) | + | C250T | Hemi | M | EGFR gain |
| 15 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (1) | Retain | R132H (57.8) | + | C228T | Hemi | U | EGFR gain, TP53 hemi |
| 16 | Oligodendroglioma, IDH-mut. (3) | AOA | Negative (1) | Retain | R132H (47.6) | + | C228T | Hemi | M | TP53 hemi |
AA, anaplastic astrocytoma; amp, amplification; AO, anaplastic oligodendroglioma; AOA, anaplastic oligoastrocytoma; CDK4, cyclin-dependent kinase 4; CDKN2A/B, cyclin-dependent kinase inhibitor 2A/B; codel, codeletion; DA, diffuse astrocytoma; EGFR, epidermal growth factor receptor; Hemi, hemizygous deletion; Homo, homozygous deletion; IDH, isocitrate dehydrogenase; mut, mutant; N/A, not available; OA, oligoastrocytoma; pTERT, promoter of telomerase reverse transcriptase; TP53, tumor protein P53; VAF, valiant allele frequency; Wt, wild type.
†Heterogeneity within the tumor was found. p16-positive (score 3) and p16-negative (score 1) cells were coexisting. The score of the region with the lowest expression was adopted for the p16 status.
| Case . | Integrated diagnosis (grade) . | Pathological diagnosis . | Molecular diagnosis . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Histology . | p16 (score) . | MTAP . | IDH1 (VAF, %) . | 1p/19q codel . | pTERT . | CDKN2A/B status . | CDKN2A methylation (M/U) . | Others . | ||
| 1 | Astrocytoma, IDH-mut. (4) | AA | Negative (0) | Loss | R132H (47.0) | − | Wt | Homo | — | |
| 2 | Astrocytoma, IDH-mut. (4) b | DA | Negative (0) | Loss | R132H (22.9) | − | Wt | Homo | — | TP53 hemi |
| 3 | Astrocytoma, IDH-mut. (4) | OD | N/A | N/A | R132H (49.1) | − | Wt | Homo | — | EGFR gain, CDK4 gain |
| 4 | Astrocytoma, IDH-mut. (3) | AA | Negative (0) | Retain | R132H (43.4) | − | Wt | Hemi | M | |
| 5 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (36.7) | − | Wt | Hemi | M | EGFR gain |
| 6 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.3) | − | Wt | Hemi | U | PDGFRA amp |
| 7 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.8) | − | Wt | Hemi | U | |
| 8 | Astrocytoma, IDH-mut. (2) | OA | Negative (1) | Retain | R132H (28.5) | − | Wt | Hemi | U | TP53 hemi |
| 9 | Astrocytoma, IDH-mut. (2) | OA | Negative (0) | Retain | R132H (41.5) | − | Wt | Hemi | M | TP53 hemi |
| 10 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (44.5) | − | Wt | Hemi | M | |
| 11 | Astrocytoma, IDH-mut. (2) | DA | Negative† (1†) | Retain | R132H (40.5) | − | Wt | Hemi | M | |
| 12 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (52.0) | − | Wt | Hemi | M | TP53 homo |
| 13 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (0) | Loss | R132H (32.7) | + | C228T | Homo | — | |
| 14 | Oligodendroglioma, IDH-mut. (3) | AO | N/A | N/A | R132H (44.0) | + | C250T | Hemi | M | EGFR gain |
| 15 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (1) | Retain | R132H (57.8) | + | C228T | Hemi | U | EGFR gain, TP53 hemi |
| 16 | Oligodendroglioma, IDH-mut. (3) | AOA | Negative (1) | Retain | R132H (47.6) | + | C228T | Hemi | M | TP53 hemi |
| Case . | Integrated diagnosis (grade) . | Pathological diagnosis . | Molecular diagnosis . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Histology . | p16 (score) . | MTAP . | IDH1 (VAF, %) . | 1p/19q codel . | pTERT . | CDKN2A/B status . | CDKN2A methylation (M/U) . | Others . | ||
| 1 | Astrocytoma, IDH-mut. (4) | AA | Negative (0) | Loss | R132H (47.0) | − | Wt | Homo | — | |
| 2 | Astrocytoma, IDH-mut. (4) b | DA | Negative (0) | Loss | R132H (22.9) | − | Wt | Homo | — | TP53 hemi |
| 3 | Astrocytoma, IDH-mut. (4) | OD | N/A | N/A | R132H (49.1) | − | Wt | Homo | — | EGFR gain, CDK4 gain |
| 4 | Astrocytoma, IDH-mut. (3) | AA | Negative (0) | Retain | R132H (43.4) | − | Wt | Hemi | M | |
| 5 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (36.7) | − | Wt | Hemi | M | EGFR gain |
| 6 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.3) | − | Wt | Hemi | U | PDGFRA amp |
| 7 | Astrocytoma, IDH-mut. (3) | AA | Negative (1) | Retain | R132H (42.8) | − | Wt | Hemi | U | |
| 8 | Astrocytoma, IDH-mut. (2) | OA | Negative (1) | Retain | R132H (28.5) | − | Wt | Hemi | U | TP53 hemi |
| 9 | Astrocytoma, IDH-mut. (2) | OA | Negative (0) | Retain | R132H (41.5) | − | Wt | Hemi | M | TP53 hemi |
| 10 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (44.5) | − | Wt | Hemi | M | |
| 11 | Astrocytoma, IDH-mut. (2) | DA | Negative† (1†) | Retain | R132H (40.5) | − | Wt | Hemi | M | |
| 12 | Astrocytoma, IDH-mut. (2) | DA | Negative (1) | Retain | R132H (52.0) | − | Wt | Hemi | M | TP53 homo |
| 13 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (0) | Loss | R132H (32.7) | + | C228T | Homo | — | |
| 14 | Oligodendroglioma, IDH-mut. (3) | AO | N/A | N/A | R132H (44.0) | + | C250T | Hemi | M | EGFR gain |
| 15 | Oligodendroglioma, IDH-mut. (3) | AO | Negative (1) | Retain | R132H (57.8) | + | C228T | Hemi | U | EGFR gain, TP53 hemi |
| 16 | Oligodendroglioma, IDH-mut. (3) | AOA | Negative (1) | Retain | R132H (47.6) | + | C228T | Hemi | M | TP53 hemi |
AA, anaplastic astrocytoma; amp, amplification; AO, anaplastic oligodendroglioma; AOA, anaplastic oligoastrocytoma; CDK4, cyclin-dependent kinase 4; CDKN2A/B, cyclin-dependent kinase inhibitor 2A/B; codel, codeletion; DA, diffuse astrocytoma; EGFR, epidermal growth factor receptor; Hemi, hemizygous deletion; Homo, homozygous deletion; IDH, isocitrate dehydrogenase; mut, mutant; N/A, not available; OA, oligoastrocytoma; pTERT, promoter of telomerase reverse transcriptase; TP53, tumor protein P53; VAF, valiant allele frequency; Wt, wild type.
†Heterogeneity within the tumor was found. p16-positive (score 3) and p16-negative (score 1) cells were coexisting. The score of the region with the lowest expression was adopted for the p16 status.
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