Cutaneous sclerosing perineurioma with cryptic NF2 gene deletion

Am J Surg Pathol. 1999 Jul;23(7):849-53. doi: 10.1097/00000478-199907000-00015.

Abstract

Sclerosing perineurioma is a recently described variant of perineurioma that characteristically occurs in the fingers and palms of young adults. We report a cutaneous sclerosing perineurioma with preservation of the axons and Schwann cells in the center of the whorls of perineurial cells, a feature that previously was reported to be typically absent in these lesions. Additionally, clonal chromosomal abnormalities of chromosome 10 and a cryptic deletion of the 5'BCR and NF2 loci on chromosome 22 were present. These findings further support the hypothesis that a gene on chromosome 22 may play a role in the pathogenesis of perineurioma. The NF2 gene is a logical candidate because of its involvement in other nerve sheath tumors.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biomarkers, Tumor / metabolism
  • Chromosomes, Human, Pair 22 / genetics
  • Female
  • Genes, Neurofibromatosis 2*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Nerve Sheath Neoplasms / genetics*
  • Nerve Sheath Neoplasms / metabolism
  • Nerve Sheath Neoplasms / pathology*
  • Oncogene Proteins / genetics
  • Peripheral Nervous System Neoplasms / genetics*
  • Peripheral Nervous System Neoplasms / metabolism
  • Peripheral Nervous System Neoplasms / pathology*
  • Protein-Tyrosine Kinases*
  • Proto-Oncogene Proteins c-bcr
  • Proto-Oncogene Proteins*
  • Sclerosis
  • Sequence Deletion
  • Skin Neoplasms / genetics
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology*

Substances

  • Biomarkers, Tumor
  • Oncogene Proteins
  • Proto-Oncogene Proteins
  • Protein-Tyrosine Kinases
  • BCR protein, human
  • Proto-Oncogene Proteins c-bcr