Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction: A specific diagnostic assay Journal Article
| Authors: | de Alava, E.; Ladanyi, M.; Rosai, J.; Gerald, W. L. |
| Article Title: | Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction: A specific diagnostic assay |
| Abstract: | Desmoplastic small round cell tumor is a recently described entity associated with fusion of the EWS and WT1 genes and with expression of a chimerio transcript. To investigate the structure and potential diagnostic 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 transcriptase polymerase chain reaction for the presence of EWS-WT1, EWS-FLI-1, PAX3-FKHR, and PAX7-FKHR chimeric transcripts. EWS-WT1 was detected in 11 of 12 desmoplastic small round cell tumors but not in any other tumor type studied, including 17 Wilms' tumors, 10 Ewing's sarcomas/primitive neuroectodermal tumors, 13 alveolar rhabdomyosarcomas, and 9 embryonal rhabdomyosarcomas. One desmoplastic small round cell tumor was found to have a variant EWS-WT1 chimeric product that included exon 8 of EWS EWS-FLI-1 chimeric RNA was present in all Ewing's sarcoma/primitive neuroectodermal tumor and not identified in any other tumor types, including desmoplastic small round cell tumor. PAX3/PAX7-FKHR chimeras were present in 9 of 13 alveolar rhabdomyosarcomas but nor in any other tumors. Detection of chimeric transcripts by reverse transcriptase polymerase chain reaction is a very specific aid in differential diagnosis of developmental tumors and further establishes desmoplastic small round cell tumor as a distinct entity. |
| Keywords: | adolescent; adult; child; clinical article; controlled study; human tissue; school child; human cell; dna-binding proteins; polymerase chain reaction; reverse transcription polymerase chain reaction; peritoneal neoplasms; differential diagnosis; neoplasm proteins; transcription, genetic; childhood cancer; transcription factors; ewing sarcoma; chimera; cloning, molecular; molecular sequence data; gene fusion; ribonucleoproteins; base sequence; rhabdomyosarcoma; sarcoma, ewing's; rna, neoplasm; neuroectoderm tumor; embryonal rhabdomyosarcoma; rhabdomyosarcoma, embryonal; nephroblastoma; neuroectodermal tumors, primitive; rhabdomyosarcoma, alveolar; desmoplastic small round cell tumor; wt1 proteins; chromosome translocation 11; chromosome translocation 2; heterogeneous-nuclear ribonucleoproteins; human; male; female; priority journal; article; chromosome translocation 12; support, non-u.s. gov't; chromosome translocation 13; chimeric proteins |
| Journal Title: | American Journal of Pathology |
| Volume: | 147 |
| Issue: | 6 |
| ISSN: | 0002-9440 |
| Publisher: | Elsevier Science, Inc. |
| Date Published: | 1995-12-01 |
| Start Page: | 1584 |
| End Page: | 1591 |
| Language: | English |
| PUBMED: | 7495283 |
| PROVIDER: | scopus |
| PMCID: | PMC1869955 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 28 August 2018 -- Source: Scopus |
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