DETECTION OF CHIMERIC TRANSCRIPTS IN DESMOPLASTIC SMALL ROUND-CELL TUMOR AND RELATED DEVELOPMENTAL TUMORS BY REVERSE-TRANSCRIPTASE POLYMERASE CHAIN-REACTION - A SPECIFIC DIAGNOSTIC ASSAY

Citation
E. Dealava et al., DETECTION OF CHIMERIC TRANSCRIPTS IN DESMOPLASTIC SMALL ROUND-CELL TUMOR AND RELATED DEVELOPMENTAL TUMORS BY REVERSE-TRANSCRIPTASE POLYMERASE CHAIN-REACTION - A SPECIFIC DIAGNOSTIC ASSAY, The American journal of pathology, 147(6), 1995, pp. 1584-1591
Citations number
31
Language
INGLESE
art.tipo
Note
Categorie Soggetti
Pathology
ISSN journal
0002-9440
Volume
147
Issue
6
Year of publication
1995
Pages
1584 - 1591
Database
ISI
SICI code
0002-9440(1995)147:6<1584:DOCTID>2.0.ZU;2-7
Abstract
Desmoplastic small round cell tumor is a recently described entity ass ociated with fusion of the EWS and WT1 genes and with expression of a chimeric transcript. To investigate the structure and potential diagno stic utility of the detection of EWS-WT1 chimeric RNA in desmoplastic small round cell tumor, 12 examples of this entity and 49 other tumors that enter in its differential diagnosis were studied by reverse tran scriptase polymerase chain reaction for the presence of EWS-WT1, EWS-F LI-1, PAX3-FKHR, and PAX7-FKHR chimeric transcripts. EWS-WT1 was detec ted in 11 of 12 desmoplastic small round cell tumors but not in any ot her tumor type studied, including 17 Wilms' tumors, 10 Ewing's sarcoma s/primitive neuroectodermal tumors, 13 alveolar rhabdomyosarcomas, and 9 embryonal rhabdomyosarcomas. One desmoplastic small round cell tumo r was found to have a variant EWS-WT1 chimeric product that included e xon 8 of EWS. EWS-FLI-1 chimeric RNA was present in all Ewing's sarcom a/primitive neuroectodermal tumor and not identified in any other tumo r types, including desmoplastic small round cell tumor. PAX3/PAX7-FKHR chimeras were present in 9 of 13 alveolar rhabdomyosarcomas but not i n any other tumors. Detection of chimeric transcripts by reverse trans criptase polymerase chain reaction is a very specific aid in different ial diagnosis of developmental tumors and further establishes desmopla stic small round cell tumor as a distinct entity.