From: SETD2 mutations in primary central nervous system tumors
Patient # | Age at time of resection | Gender | Location | Diagnosis | Histologic Grade | SETD2 point mutation (AF) | Other disease-associated mutations (AF)a | Prior CNS tumor | Follow up from initial tumor resection (months) |
---|---|---|---|---|---|---|---|---|---|
12 | 32 | M | Right frontal lobe | Recurrent/residual high grade glioma, IDH-mutant | IV | p.G1659D (4%) p.S1268F (3%) | IDH1 p.R132H (49%) CDKN2A p.A36Rfs*17 (72%) NOTCH1 p.? (3%) TP53 p.? (84%) EP300 p.Q2224* (2%) | History of anaplastic astrocytoma resected in 2011 and 2012 status-post resection and chemoradiation | 72c |
13 | 69 | M | Right frontal lobe | Anaplastic astrocytoma, IDH-wildtype, WHO grade III | III | p.I1398T (49%)b | EGFR p.G598V (94%) EGFR amplification KMT2C p.S777Kfs*19 (24%) | None | 13d |
14 | 60 | M | Left frontal lobe | Recurrent/residual glioblastoma, IDH-wildtype | IV | p.A2458T (32%) p.S1088F (9%) | MSH6 p.F1088Lfs*5 (9%) TET2 p.W1847* (14%) EZH2 p.? (10%) PTCH1 p.Y1316Tfs*56 (6%) PTEN p.? (4%) TP53 p.H179Y (3%), p.P152L (49%), p.S127F (8%) NF1 p.? (9%), p.W2229* (6%) KDM6A p.? (9%) | History of glioblastoma resected 2013 and 2015 status-post chemoradiation | 44e |
15 | 64 | M | Right frontal lobe | Anaplastic astrocytoma, IDH-wildtype, WHO grade III | III | p.A2242V (49%)b | EGFR p.A289T (32%) PTEN p.E7Rfs*17 (18%), p.R130del (7%) | None | 2c |
16 | 27 | F | Right frontal | Recurrent/residual glioblastoma, IDH-mutant | IV | p.E1692K (7%) p.R385K (2%) | IDH1 p.R132H (38%) KMT2C p.? (3%) MEN1 p.? (2%) ARID2 p.Q1604* (2%) BRCA2 p.Q2009* (23%) TP53 p.Y220Pfs*28 (90%) | History of glioblastoma resected 2013 and 2015 status-post chemoradiation | 49f |
17 | 42 | M | Superior saggital sinus, extra axial | Recurrent/residual atypical meningioma | III | p.G1014D (22%) | BRCA2 p.R2494* (3%) | History of atypical meningioma resected 2009 status-post radiation | 96c |
18 | 33 | M | 4th ventricle | Choroid plexus papilloma, WHO grade I | I | p.R1089Q (51%)b | None | None | 5c |
19 | 18 | M | Cerebellum, left hemisphere | Medulloblastoma, nodular desmoplastic variant, SHH subgroup, WHO grade IV | IV | p.V2371L (5%) p.T1663M (6%) | ATM p.L1327* (42%) CTCF p.R448* (7%) PTCH1 p.C454* (41%) TERT p.? (57%) | None | 40d |