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Table 2 Demographics of patients with missense mutations in SETD2

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
  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. bMissense mutations likely represent germline variant
  4. cNo definitive tumor progression detected on surveillance imaging
  5. dPatient had tumor recurrences and resections, now with no definitive progression detected on surveillance imaging
  6. eSurveillance imaging studies not available
  7. fTumor progression suspected on surveillance imaging