Malignant peripheral nerve sheath tumor with a t(X;18)

Arch Pathol Lab Med. 2000 Jun;124(6):864-7. doi: 10.5858/2000-124-0864-MPNSTW.

Abstract

We describe an ankle tumor arising in a 16-year-old girl. The tumor demonstrated histology typical of a malignant peripheral nerve sheath tumor (MPNST), but exhibited a variant form of the (X;18) translocation associated with synovial sarcoma. Immunohistochemical stains were positive for vimentin, CD57, collagen type IV, and Bcl-2. Routine and molecular cytogenetic studies showed an unbalanced 3-way chromosomal translocation that involved chromosomes X, 18, and 1. Electron microscopic findings were noncontributory. This unusual tumor raises the following questions and possibilities: (1) As the t(X;18) suggests, could this tumor be a monophasic synovial sarcoma with the histologic features of an MPNST? (2) Or, as the histology suggests, is this tumor an MPNST that has a t(X;18)? (3) Finally, could MPNST histology, a t(X;18), and no defining immunohistochemical or electron microscopic features represent an as yet unrecognized part of a spectrum that spans from synovial sarcoma to MPNST or other spindle cell tumors?

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • CD57 Antigens / analysis
  • Chromosome Mapping
  • Chromosomes, Human, Pair 18*
  • Collagen / analysis
  • Diagnosis, Differential
  • Female
  • Humans
  • Karyotyping
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Neoplasm Recurrence, Local / surgery
  • Neoplasm Recurrence, Local / ultrastructure
  • Nerve Sheath Neoplasms / genetics*
  • Nerve Sheath Neoplasms / pathology*
  • Nerve Sheath Neoplasms / surgery
  • Nerve Sheath Neoplasms / ultrastructure
  • Proto-Oncogene Proteins c-bcl-2 / analysis
  • Reoperation
  • Sarcoma, Synovial / genetics*
  • Sarcoma, Synovial / pathology*
  • Sarcoma, Synovial / surgery
  • Sarcoma, Synovial / ultrastructure
  • Translocation, Genetic*
  • Vimentin / analysis
  • X Chromosome*

Substances

  • CD57 Antigens
  • Proto-Oncogene Proteins c-bcl-2
  • Vimentin
  • Collagen