Detection of the synovial sarcoma translocation t(X;18) (SYT;SSX) in paraffin-embedded tissues using reverse transcriptase-polymerase chain reaction: a reliable and powerful diagnostic tool for pathologists. A molecular analysis of 221 mesenchymal tumors fixed in different fixatives

Détails

ID Serval
serval:BIB_C0780412A746
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Detection of the synovial sarcoma translocation t(X;18) (SYT;SSX) in paraffin-embedded tissues using reverse transcriptase-polymerase chain reaction: a reliable and powerful diagnostic tool for pathologists. A molecular analysis of 221 mesenchymal tumors fixed in different fixatives
Périodique
Human Pathology
Auteur(s)
Guillou  L., Coindre  J., Gallagher  G., Terrier  P., Gebhard  S., de Saint Aubain  S. N., Michels  J., Jundt  G., Vince  D. R., Collin  F., Trassard  M., Le, D., V , Benhattar  J.
ISSN
0046-8177 (Print)
Statut éditorial
Publié
Date de publication
2001
Volume
32
Numéro
1
Pages
105-112
Notes
PT - Journal Article PT - Research Support, Non-U.S. Gov't
Résumé
Synovial sarcoma (SS) is a relatively rare sarcoma, which may be confused with several other mesenchymal and nonmesenchymal lesions. It bears the t(X;18) (SYT;SSX) translocation, which seems to be specific for this tumor type and can be detected in paraffin-embedded tissue, using reverse transcriptase-polymerase chain reaction (RT-PCR). However, the specificity and sensitivity of this detection method have rarely been examined in a large series. Using RT-PCR, we examined 250 mesenchymal and nonmesenchymal, benign and malignant, paraffin-embedded lesions for the SS t(X;18) (SYT-SSX) translocation. PCR products were obtained from 221 tumors (88.5%). There were 135 non-SS tumors, 22 biphasic, and 64 monophasic spindle/round cell SS, of which 10 were cytogenetically confirmed as t(X;18)-positive. SYT-SSX gene fusion transcripts were detected in the SS tumor category only (100% specificity), including 100% of the biphasic SS and 86% of monophasic spindle/round cell SS. Nine tumors originally diagnosed as SS were t(X;18) (SYT-SSX)-negative. Following reassessment, only 3 of these tumors showed clinicopathologic, immunohistochemical, and/or ultrastructural features consistent with that diagnosis, thus raising the overall detection sensitivity to 96%. With regard to the potential adverse effect of the fixatives used, PCR products were obtained in 100%, 91.5%, 90.5%, and 0% of tumors fixed with AFA, buffered formalin, Holland Bouin, and conventional Bouin's fluid, respectively. This study shows that the detection of the SS t(X;18) (SYT-SSX) in paraffin-embedded tissue is feasible with a 100% specificity and an overall 96% sensitivity, provided non-Bouin's fluid fixation is used
Mots-clé
Adult/Chromosomes,Human,Pair 18/genetics/DNA,Complementary/Female/Fixatives/Humans/Male/Middle Aged/Neoplasms,Connective and Soft Tissue/Pathology/Oncogene Proteins,Fusion/Paraffin Embedding/Pathology,Clinical/RNA,Neoplasm/Reproducibility of Results/Reverse Transcriptase Polymerase Chain Reaction/Sarcoma,Synovial/Translocation,Genetic/Tumor Markers,Biological/X Chromosome
Pubmed
Web of science
Création de la notice
29/01/2008 18:35
Dernière modification de la notice
20/08/2019 15:34
Données d'usage