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.
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.
Coindre
Jean-Michel
JM
Bergonié Institute and the University of Bordeaux 2, France.
Hostein
Isabelle
I
Benhattar
Jean
J
Lussan
Cathy
C
Rivel
Janine
J
Guillou
Louis
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018317:Nerve Sheath Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012334:RNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*
D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; C116512:SYT-SSX fusion protein