From: SETD2 mutations in primary central nervous system tumors
Patient # | Age at time of resection | Gender | Location | Diagnosis | Histologic Grade | SETD2 mutation (AF) | Other disease-associated mutations (AF)a | Prior CNS tumor | Follow up from initial tumor resection (months) |
---|---|---|---|---|---|---|---|---|---|
1 | 60 | M | Left thalamus | Glioblastoma, IDH-wildtype, WHO grade IV | IV | p.K846lfs*4 (30%) | PTEN p.P246L (47%) | None | 8b |
2 | 48 | F | Left temporal lobe | Glioblastoma, IDH-wildtype, WHO grade IV | IV | p.E282Rfs*9 (4%) | PIK3CA p.G1049R (6%) BRAF p.G466V (2%) NF1 p.F1247Ifs*18 (7%) | None | 7b |
3 | 37 | M | Right frontoparietal lobe | Glioblastoma, IDH-wildtype, WHO grade IV | IV | p.F1132Sfs*22 (23%) | None | None | 12c |
4 | 55 | M | Left frontal lobe | Anaplastic astrocytoma, IDH-wildtype, WHO grade III | III | p.R1598* (44%) | EGFR amplification | None | 2b |
5 | 75 | M | Right frontal lobe | Recurrent/residual glioblastoma, IDH-wildtype | IV | p.W1341* (5%) | ARID1A p.? (3%) FBXW7 p.Q548* (6%) EGFR p.A289V (15%) ARID2 p.Q1215* (11%) | History of glioblastoma resected in 2012 status-post chemoradiation | 61b |
6 | 80 | F | Right frontal lobe resection, gliomatosis cerebri pattern | Diffuse astrocytoma, IDH-wildtype, WHO grade II | II | p.E1907Rfs*4 (6%) | EGFR p.A244T (19%) | None | 9d |
7 | 10 | M | Cerebellum, left hemisphere | Pilocytic astrocytoma, WHO grade I | I | p.R2109* (34%) | KIAA1549-BRAF fusion | None | 12b |
8 | 16 | F | Left temporal lobe | Diffuse astrocytoma | II | p.Q1764Pfs*3 (11%) | QKI-NTRK2 fusion | None | 3b |
9 | 9 | M | Left temporal lobe | Recurrent/residual Pilocytic Astrocytoma | I | p.Q7* (51%) | KIAA1549-BRAF fusion | History of pilocytic astrocytoma resected 2012 (x3) status-post chemotherapy | 72b |
10 | 17 | M | Cerebellum | Pilocytic Astrocytoma | I | p.N261* (28%) | NF1 p.R2269Vfs*11 | None | 2b |
11 | 68 | F | Right temporoparietal, extra axial | Atypical meningioma, WHO grade II | II | p.E282Kfs*19 (10%) | NF2 p.L163Wfs*11 (71%) | History of grade I menginomas resected 2005 and 2006 | 7a |