[Intraneural perineurioma: clinical and morphological characteristics and a molecular genetic study of the neurofibromatosis type 2 gene].
The authors describe 4 cases of clinically, morphologically, and immunohistochemically typical intraneural perineuriomas that occurred in women aged 17 to 24 years. The tumors involved median, radial, ulnar, and palmar nerves and were 3, 2.5, 1.5, and 1.2 cm in the largest diameter. None patients had signs ofneurofibromatosis type 2 (NF2). One case was studied for mutation of the NF2 gene and heterozygous splice-site mutation at the acceptor splice site between exons 12 and 13 (agGG --> aaGG) was revealed. Two patients were followed up: they were disease-free for 10 and 15 years.
Shelekhova
K V
KV
Sima
R
R
Orlov
A Iu
AIu
Kozakov
D V
DV
Michal
M
M
D000293:Adolescent; D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D018317:Nerve Sheath Neoplasms / Q000235:genetics* / Q000473:pathology*; D025581:Neurofibromin 2 / Q000235:genetics*; D010525:Peripheral Nerves / Q000473:pathology; D010524:Peripheral Nervous System Neoplasms / Q000235:genetics* / Q000473:pathology*; D017354:Point Mutation; D022821:RNA Splice Sites; D012189:Retrospective Studies
D025581:Neurofibromin 2; D022821:RNA Splice Sites