Detection of Gene Fusions in Rhabdomyosarcoma by Reverse Transcriptase-Polymerase Chain Reaction Assay of Archival Samples

Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3‐FKHR gene fusion transcripts

“…To confirm the diagnosis of ARMS, we examined the expression of mRNA transcripts encoding the PAX3-FKHR fusion protein using reverse transcription polymerase chain reaction (RT-PCR) with specific primers for the fusion genes. 11 As shown in Figure 3(a), a chimeric transcript was detected in the formalin-fixed, paraffin-embedded tumor tissue. Sequencing of the RT-PCR product revealed a chimeric transcript encoding a fusion protein consisting of a part of PAX3 from the N-terminus to 391Q and a part of FKHR from 211N to the C-terminus (Fig.…”

“…To confirm the diagnosis of ARMS, we examined the expression of mRNA transcripts encoding the PAX3‐FKHR fusion protein using reverse transcription polymerase chain reaction (RT‐PCR) with specific primers for the fusion genes 11 . As shown in Figure 3(a), a chimeric transcript was detected in the formalin‐fixed, paraffin‐embedded tumor tissue.…”

“…RT‐PCR was performed as described by Edwards et al. 11 RT‐PCR products were analyzed using a Model SV1210 microchip electrophoresis instrument (Hitachi Electronics, Tokyo, Japan). A 170‐bp band corresponding to the fusion gene transcript was detected in paraffin‐embedded tumor tissues from the present case (lane 2), but not from unrelated control skin tumor tissues (lane 1).…”

Myogenin and MyoD1 expression in paediatric rhabdomyosarcomas

“…23 Several other studies have confirmed the high specificity for the diagnosis of ARMS because no cases of ERMS exhibit these fusion products. [24][25][26] Furthermore, molecular and morphological review of RMS cases suggests that, in some cases, the detection of translocations may clarify the histopathological diagnosis in cases where morphological features are equivocal. 27 Although such cytogenetic abnormalities are often detected, in some ARMS cases the PAX3-FKHR or PAX7-FKHR fusion gene products can be detected by molecular methods, but the translocation cannot be identified cytogenetically, 28 29 and rarely other variant translocations may be present.…”

Immunohistochemistry in the diagnosis of soft tissue tumours

“…[125][126][127][128] These translocations may be demonstrated by RT-PCR or FISH on frozen or paraffin-embedded tissue. [129][130][131][132] The respective roles of immunohistochemistry and molecular biology for identifying the alveolar type are currently not clear, but the type of translocation has been reported to have some prognostic impact 125,133 and therefore translocation typing could be performed on any rhabdomyosarcoma showing more than 50% of cells positive with myogenin.…”