PMID- 10063718 OWN - NLM STAT- MEDLINE DCOM- 19990316 LR - 20161124 IS - 0578-1337 (Print) IS - 0578-1337 (Linking) VI - 62 IP - 2 DP - 1999 Feb TI - Detection of PAX3-FKHR and PAX7-FKHR fusion transcripts in rhabdomyosarcoma by reverse transcriptase-polymerase chain reaction using paraffin-embedded tissue. PG - 86-91 AB - BACKGROUND: Alveolar rhabdomyosarcoma (RMS) is associated with a characteristic chromosomal translocation t(2;13)(q35;q14). The genes involved in this translocation are paired box (PAX)3 on chromosome 2 and forkhead in RMS (FKHR) on chromosome 13. An occasional variant translocation t(1;13)(p36;q14) affecting PAX7 and FKHR on chromosomes 1 and 13, respectively, has also been described. Chromosomal translocations in RMS are detected using conventional cytogenetic analysis, fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction (RT-PCR) on fresh or frozen tissue samples. We describe the results of RT-PCR analysis of PAX3-FKHR and PAX7-FKHR chimeric messages in formalin-fixed, paraffin-embedded tissue samples from 17 RMS cases. METHODS: RNA was extracted from formalin-fixed, paraffin-embedded RMS tissue. Oligonucleotide primers corresponding to the regions of PAX3, PAX7 and FKHR were used for the detection of PAX3-FKHR and PAX7-FKHR chimeric messages. A seminested PCR of the PCR products was used to increase the sensitivity of detection. The amplified fragments were purified and directly sequenced to confirm the specificity of the methods. RESULTS: The PAX3-FKHR chimeric message was detected in all three cases of alveolar RMS but not in any of the 12 embryonal and two pleomorphic RMS cases. The PAX7-FKHR fusion transcript was detected in one case of embryonal RMS. CONCLUSIONS: The results indicate that the RT-PCR assay is a reliable method for the detection of the PAX3-FKHR fusion transcript of alveolar RMS in formalin-fixed, paraffin-embedded tissue. This simple method enables pathologists to identify chromosomal rearrangements in RMS as a diagnostic aid in cases where fresh or frozen tissue is not available. FAU - Chen, B F AU - Chen BF AD - Department of Pathology, Mackay Memorial Hospital, Taipei, Taiwan, ROC. FAU - Chen, M L AU - Chen ML FAU - Liang, D C AU - Liang DC FAU - Huang, Y W AU - Huang YW FAU - Liu, H C AU - Liu HC FAU - Chen, S H AU - Chen SH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China (Republic : 1949- ) TA - Zhonghua Yi Xue Za Zhi (Taipei) JT - Zhonghua yi xue za zhi = Chinese medical journal; Free China ed JID - 0005327 RN - 0 (DNA-Binding Proteins) RN - 0 (FOXO1 protein, human) RN - 0 (Forkhead Box Protein O1) RN - 0 (Forkhead Transcription Factors) RN - 0 (Homeodomain Proteins) RN - 0 (Muscle Proteins) RN - 0 (Nerve Tissue Proteins) RN - 0 (PAX3 Transcription Factor) RN - 0 (PAX3 protein, human) RN - 0 (PAX7 Transcription Factor) RN - 0 (PAX7 protein, human) RN - 0 (Paired Box Transcription Factors) RN - 0 (RNA, Messenger) RN - 0 (Recombinant Fusion Proteins) RN - 0 (Transcription Factors) RN - 138016-91-8 (Pax3 protein, mouse) RN - 8002-74-2 (Paraffin) SB - IM MH - DNA-Binding Proteins/*genetics MH - Forkhead Box Protein O1 MH - Forkhead Transcription Factors MH - *Homeodomain Proteins MH - Humans MH - Muscle Proteins/*genetics MH - Nerve Tissue Proteins/*genetics MH - PAX3 Transcription Factor MH - PAX7 Transcription Factor MH - Paired Box Transcription Factors MH - Paraffin MH - RNA, Messenger/*analysis MH - Recombinant Fusion Proteins/*genetics MH - *Reverse Transcriptase Polymerase Chain Reaction MH - Rhabdomyosarcoma/*genetics MH - Tissue Embedding MH - Transcription Factors/*genetics MH - Translocation, Genetic EDAT- 1999/03/04 00:00 MHDA- 1999/03/04 00:01 CRDT- 1999/03/04 00:00 PHST- 1999/03/04 00:00 [pubmed] PHST- 1999/03/04 00:01 [medline] PHST- 1999/03/04 00:00 [entrez] PST - ppublish SO - Zhonghua Yi Xue Za Zhi (Taipei). 1999 Feb;62(2):86-91.