Molecular pathological diagnosis of soft tissue tumors
Hasegawa, T.
Rinsho Byori. Japanese Journal of Clinical Pathology 58(4): 371-381
2010
ISSN/ISBN: 0047-1860 PMID: 20496765 Document Number: 643533
Among soft tissue tumors, which have some difficulties in diagnosis and treatment, it is known that distinctive chromosomal and gene abnormalities such as chromosomal translocations and fusion genes resulting from these translocations can be detected. We have focused on the research and development of split-signal DNA probes for FISH analysis, which can establish an accurate diagnosis by detecting the specific fusion genes for soft tissue tumors. Using these probes as well as commercially available probes, we conduct the FISH analysis on formalin-fixed, paraffin-embedded histological specimens to apply these methods to the routine pathological diagnosis. In this article, we introduce (1) principle of detecting fusion genes by RT-PCR and FISH, (2) outlines of FISH using split-signal probes, and (3) results of FISH analysis in Ewing sarcoma/PNET, rhabdomyosarcoma, pleomorphic liposarcoma and extraskeletal myxoid chondrosarcoma.