Skip to main content

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