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. 2019 Aug 22;14:207. doi: 10.1186/s13023-019-1176-4

Table 1.

Characteristics of 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

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