The genes involved in consistent aberrations and amplicons will subsequently be identified. CGH has been used to identify characteristic patterns of gain and loss of genomic material in both the alveolar and embryonal sub-types of rhabdomyosarcoma. Amplification of the fusion gene PAX7-FKHRwas indicated in two alveolar cases. A novel amplicon at 13q31-32 is being characterised further. We are addressing the question of whether identification of chromosome rearrangements and specific fusion gene products in human sarcoma improves diagnostic accuracy and correlates with clinicopathological features.
Analysis includes rhabdomyosarcoma and synovial sarcoma samples.
We have collated UK cytogenetic data and corresponding clinical and pathological data on rhabdomyosarcoma through the UK Cancer Cytogenetics Group and UK Children's Cancer Study Group and combined this with interphase FISH and RT-PCR data indicating the translocation status.