Malignant peripheral nerve sheath tumors are t(X;18)-negative sarcomas. Molecular analysis of 25 cases occurring in neurofibromatosis type 1 patients, using two different RT-PCR-based methods of detection

Mod Pathol. 2002 Jun;15(6):589-92. doi: 10.1038/modpathol.3880570.

Abstract

To verify the absence of the synovial sarcoma translocation t(X;18) (SYT-SSX) in malignant peripheral nerve sheath tumors, 34 tumor samples from 25 neurofibromatosis type 1 patients were examined in two independent laboratories (Bordeaux, France, and Lausanne, Switzerland) using reverse transcriptase polymerase chain reaction (RT-PCR)-based techniques. RNA was extracted from paraffin blocks using standard methods, reverse transcribed, and conventional (in one laboratory) versus real-time (in the other laboratory) PCR performed. Twenty-seven tumor samples from 19 patients were negative for the t(X;18) in both laboratories; six additional tumors that were t(X;18)-negative in one laboratory gave noninterpretable results in the other, due to lack of internal positive controls; one case was noninterpretable in both places. In conclusion, malignant peripheral nerve sheath tumors in neurofibromatosis type 1 patients do not bear the synovial sarcoma t(X;18) (SYT-SSX). Laboratories that use PCR-based techniques for diagnostic purposes would benefit from quality assurance programs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Nerve Sheath Neoplasms / complications
  • Nerve Sheath Neoplasms / genetics*
  • Nerve Sheath Neoplasms / pathology
  • Neurofibromatosis 1 / complications*
  • Oncogene Proteins, Fusion / genetics
  • RNA, Neoplasm / genetics
  • RNA, Neoplasm / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic*
  • X Chromosome / genetics*

Substances

  • Oncogene Proteins, Fusion
  • RNA, Neoplasm
  • SYT-SSX fusion protein