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Table 1 Characteristics of patients

From: Segmental schwannomatosis: characteristics in 12 patients

Patient

Sex

Age at the initial symptom

(Y)

Age at Diagnosis

(Y)

Family History

Initial Symptom

Number of tumors

Location of the tumors

Follow up

(Y)

Pain (score before/after treatment)/10

DLQI

Score/30

Treatment

Recurrence

Molecular investigation (NF2, SMARCB1, LZTR1)

1

M

53

54

P

3

UL

7

4/0

2

S

No

No mutation

2

F

ND

23

Mass

2

LL

1

ND

ND

S

Yes

LZTR1 heterozygous (VAF of 47%) pathogenic variant c.692delT, p.(Phe231Serfs*21)

3

F

39

39

suspected NF1

P

> 10

LL

11

ND

ND

D (pregabaline)

S

No

No mutation

4

F

6

38

suspected NF1

ED

9

UL

3

9/0

5

S

Yes

LZTR1 heterozygous (VAF of 48%) VUS c.764 T > G, p.(Leu255Arg) (described in Louvrier et al. 2018)

5

M

ND

37

P

> 10

LL

2

ND

ND

S

No

No mutation

6

F

ND

55

ED

2

LL

1

ND

ND

S

No

NP

7

F

30

32

P

> 10

UL

26

8/2

ND

S

Yes

NP

8

M

12

13

P

> 10

UL

2

8/1

4

S

Yes

No mutation

9

M

15

18

Cerebral tumor

ED

5

UL

L

ND

ND

ND

ND

NP

10

F

29

32

P

> 10

LL

3

9/5

13

D (gabapentine, duloxetine, paracetamol)

NA

No mutation

11

F

19

28

Vestibular schwannoma

P

6

LL

3

6/0

7

D (pregabaline, tramadol)

S

Yes

LZTR1 heterozygous (VAF of 51%) mutation c.264-13G > A, p. p.Lys89Cysfs*16 (described in Piotrowski et al. 2014)

12

F

60

65

ED

> 10

LL

2

8/5

2

D (pregabaline)

NA

No mutation

  1. D Drugs, DLQI Dermatology Quality of Life Index, ED electrical discharge, F female, M male, L Lost to follow-up, LL Lower limb, NA not applicable, ND not determined, NF1 neurofibromatosis type 1, NP not performed, P Pain, UL Upper limb, S Surgery, Y year, VAF variant allele frequency, VUS variant of unknown significance