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Table 1 Patient characteristics

From: [18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

  Patient
1 2 3 4 5
Presentation      
Age at diagnosis 35 18 23 19 23
Sex M M F M F
Diagnostic delay (year) 2 0 0 7 14
Pain (1/0) 1 1 1 1 1
Number of symptomatic body sites (N) 1 1 4 2 1
Segmental form (1/0) 0 1 0 0 1
Diagnosis      
Two or more non-intradermal tumors suggestive of schwannomas (1/0) 1 ± 1 1 1
History of bilateral vestibular schwannomas (1/0) 0 0 0 0 0
Family history of schwannomatosis (1/0) 0 0 0 0 0
Histology-proven schwannomas (N) 2 > 2 > 4 2 > 3
Genetic      
Mutation No mutation found in SMARCB1/INI1, LZTR1, NF2 N/A p.Tyr35del gene SMARCB1/INI1 N/A p.Arg362* gene LZTR1
  1. N/A, not available; M, male; F, female. 1 = present, 0 = absent. ± refers to a patient in which it was unclear from the medical records whether the patients’s schwannomas were subcutaneous or not. Le symbol “*” represents a stop codon. Del, deletion; p, protein