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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