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Table 1 Demographics of patients with frameshift and nonsense (truncating) mutations in SETD2

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
  1. Mutation calls were made using transcript ID NM_014159.6
  2. aChanges considered variants of uncertain significance are not listed with other disease-associated mutations
  3. bNo definitive tumor progression detected on surveillance imaging
  4. cSurveillance imaging studies not available
  5. dTumor progression suspected on surveillance imaging