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| MULTIPLEX RT-PCR ASSAY FOR THE DIFFERENTIAL-DIAGNOSIS OF ALVEOLAR RHABDOMYOSARCOMA AND EWINGS-SARCOMA |
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| Author(s): DOWNING JR, KHANDEKAR A, SHURTLEFF SA, HEAD DR, PARHAM DM, WEBBER BL, PAPPO AS, HULSHOF MG, CONN WP, SHAPIRO DN |
| Source: AMERICAN JOURNAL OF PATHOLOGY Volume: 146 Issue: 3 Pages: 626-634 Published: MAR 1995 |
| Times Cited: 73 References: 36 |
| Abstract: Cytogenetic analysis has defined specific translocations associated with two of the most common small round cell tumors of childhood, t(11; 22) in Ewing's sarcoma and t(2;13) in alveolar rhabdomyosarcoma. We and others have previously demonstrated the diagnostic utility of a reverse transcriptase polymerase chain reaction (RT-PCR) assay for the detection of the t(11;22) encoded EWS/FLI-1 chimeric message in Ewing's sarcoma More recently, we have cloned the t(2; 13)(q35;q14) translocation and have shown that it results in the fusion of the PAX3 gene on chromosome 2 to FKHR, a novel member of the fork-head family of transcription factors ore chromosome 13. To define the morphological spectrum of childhood sarcomas that express the t(2;13) encoded PAX3/FKHR chimeric message, we have perforated RT-PCR analysis on samples from 44 primary pediatric sarcomas and 8 sarcoma cell lines. PAXS/FKHR chimeric messages were detected in 24 of 27 alveolar, 2 of 12 embryonal, and 0 of 1 pleomorphic rhabdomyosarcoma and in 1 of 2 ectomesenchymomas. In contrast, none of 8 Ewing's sarcomas or 2 undifferentiated sarcomas expressed this message. Chimeric transcripts were detected is all cases with cytogenetic evidence of the (2;13) translocation, and in each case the chimeric PAXS/FKHR message had the identical junction sequence, suggesting that genomic chromosome breaks were clustered in a single intron in both genes, By combining the PAXS/FKHR RT-PCR assay with primers for detection of the Ewing's sarcoma t(11;22) encoded EWS/FLI-1 chimeric transcript, ate have developed a multiplex RT-PCR reaction that allows the rapid and accurate identification of either translocation in a biopsy sample. |
| Document Type: Note |
| Language: English |
| Reprint Address: DOWNING, JR (reprint author), ST JUDE CHILDRENS HOSP, DEPT PATHOL, 575 ST JUDE PL, MEMPHIS, TN 38105 USA |
Addresses:
1. ST JUDE CHILDRENS HOSP, DEPT TUMOR CELL BIOL, MEMPHIS, TN 38105 USA
2. ST JUDE CHILDRENS HOSP, DEPT HEMATOL & ONCOL, MEMPHIS, TN 38105 USA
3. ST JUDE CHILDRENS HOSP, DEPT EXPTL ONCOL, MEMPHIS, TN 38105 USA
4. UNIV TENNESSEE, COLL MED, DEPT PATHOL, MEMPHIS, TN USA
5. UNIV TENNESSEE, COLL MED, DEPT PEDIAT, MEMPHIS, TN USA
6. BAPTIST MEM HOSP, MIDSOUTH PATHOL GRP INC, MEMPHIS, TN 38146 USA |
| Publisher: AMER SOC INVESTIGATIVE PATHOLOGY, INC, 428 EAST PRESTON ST, BALTIMORE, MD 21202-3993 |
| Subject Category: Pathology |
| IDS Number: QL395 |
| ISSN: 0002-9440 |
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