Detection of Gene Fusions in Rhabdomyosarcoma by Reverse Transcriptase-Polymerase Chain Reaction Assay of Archival Samples
| Autor: | Frederic G. Barr, Robin H. Edwards, Jane Chatten, Qun-bin Xiong |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Tissue Fixation
Molecular Sequence Data Chromosomal translocation Biology Polymerase Chain Reaction Translocation Genetic Pathology and Forensic Medicine law.invention law Biomarkers Tumor medicine Humans Child Rhabdomyosarcoma Molecular Biology Gene Rhabdomyosarcoma Alveolar Polymerase chain reaction Retrospective Studies Muscle Neoplasms Messenger RNA Base Sequence RNA RNA-Directed DNA Polymerase Cell Biology musculoskeletal system medicine.disease Molecular biology Reverse transcriptase Child Preschool Alveolar rhabdomyosarcoma |
| Zdroj: | Diagnostic Molecular Pathology. 6:91-97 |
| ISSN: | 1052-9551 |
| DOI: | 10.1097/00019606-199704000-00004 |
| Popis: | Alveolar rhabdomyosarcoma is a pediatric soft-tissue tumor that is often difficult to distinguish from other small round-cell tumors. The PAX3-FKHR and PAX7-FKHR gene fusions that result from chromosomal translocations in this tumor provide potential molecular diagnostic markers. To apply these molecular markers to commonly available archival material, we used reverse transcriptase-polymerase chain reaction and oligonucleotide hybridization methodology to develop an assay capable of identifying PAX3-FKHR and PAX7-FKHR fusion transcripts in formalin-fixed, paraffin-embedded tissue. Use of a control assay for wild-type FKHR mRNA indicated that RNA was successfully isolated, reverse-transcribed, and amplified in 15 of 16 archival cases. Comparison of assay results for the PAX3-FKHR and PAX7-FKHR fusions with standard molecular assays of paired frozen material revealed that all eight cases of known fusion-positive rhabdomyosarcoma were correctly identified and distinguished as PAX3-FKHR or PAX7-FKHR. The seven cases of known fusion-negative rhabdomyosarcoma showed no evidence of either product. These results indicate that we have developed a molecular assay that accurately identifies the fusion transcripts characteristic of alveolar rhabdomyosarcoma in archival samples. This assay will be useful for diagnosis and for retrospective clinicopathologic correlative studies. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|