Utility of sarcoma-specific fusion gene analysis in paraffin-embedded material for routine diagnosis at a specialist centre.
摘要：
AIMS: Diagnosis of can be difficult. It can be aided by detection of specific genetic aberrations in many cases. This study assessed the utility of a molecular genetics/cytogenetics service as part of the routine diagnostic service at the Royal Marsden Hospital.: A retrospective audit was performed over a 15-month period to evaluate the diagnostic usefulness for with translocations of fluorescence in situ hybridisation (FISH) and (RT-) in paraffin-embedded (PE) material. Results were compared with histology, and evaluated.: Molecular investigations were performed on PE material in 158 samples (total 194 RT-and 174 FISH tests), of which 85 were referral cases. , Ewing and were the most commonly tested . showed the best histological and molecular concordance, and showed the best agreement between methods. FISH had a higher sensitivity for detecting (73%, compared with 59% for RT-) with a better success rate than RT-, although the latter was specific in identifying the partner gene for each fusion. In particular, referral blocks in which methods of tissue fixation and processing were not certain resulted in higher RT-failure rates.: FISH and RT-on PE tissue are practical and effective ancillary tools in the diagnosis of . They are useful in confirming doubtful histological diagnoses and excluding malignant diagnoses. is less sensitive than FISH, and the use of both techniques is optimal for maximising the detection rate of translocation-positive .
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DOI：
10.1136/jcp.2010.076133
被引量：
年份：
2010
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