title: Detection of specific genetic abnormalities by fluorescence in situ hybridization in soft tissue tumors.
abstract: For the detection of chromosome translocations/chimeric genes and specific genetic abnormalities in soft tissue tumors, we conducted fluorescence in situ hybridization (FISH) analysis on 280 cases of soft tissue and other tumors using formalin-fixed paraffin-embedded tissue sections. The detection rate of the FISH split-signal was 84% (129/154 cases) for the translocation-associated soft tissue tumors, such as Ewing's sarcoma/primitive neuroectodermal tumor, synovial sarcoma, alveolar rhabdomyosarcoma, myxoid liposarcoma, clear cell sarcoma and so forth. Positive split-signals from EWSR1, SS18 and FOXO1A probes were detected in 3% (2/64) of various histological types of carcinoma, lymphoma, melanoma, meningioma and soft tissue tumors. In FISH using the INI1/CEP22 probe, the INI1 deletion signal was detected in 100% (9/9) of epithelioid sarcoma. In well-differentiated and dedifferentiated liposarcomas, detection of MDM2 amplification signals in FISH using the MDM2/CEP12 probe were both as high as 85% (11/13) and 100% (13/13), respectively. In other adipocytic and non-adipocytic tumors requiring differentiation from these types, detection was only 13% (5/39), and CEP12 polysomy was frequently detected. As these results demonstrate the high sensitivity and specificity of FISH, we concluded FISH to be a useful pathological diagnostic adjunct for definite and differential diagnosis of soft tissue tumors.
authors.affiliation: Department of Surgical Pathology, Sapporo Medical University School of Medicine, Chuo-ku, Sapporo, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Miura
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Keira
authors.forename: Jiro
authors.initials: J
authors.lastname: Ogino
authors.forename: Katsuya
authors.initials: K
authors.lastname: Nakanishi
authors.forename: Hiroko
authors.initials: H
authors.lastname: Noguchi
authors.forename: Tomomi
authors.initials: T
authors.lastname: Inoue
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000328:Adult; D002675:Child, Preschool; D015342:DNA Probes; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018208:Liposarcoma, Myxoid / Q000175:diagnosis / Q000235:genetics; D008297:Male; D018204:Neoplasms, Connective and Soft Tissue / Q000175:diagnosis / Q000235:genetics*; D017599:Neuroectodermal Tumors / Q000175:diagnosis / Q000235:genetics; D016612:Paraffin Embedding; D012208:Rhabdomyosarcoma / Q000175:diagnosis / Q000235:genetics; D012509:Sarcoma / Q000175:diagnosis / Q000235:genetics*; D018227:Sarcoma, Clear Cell / Q000175:diagnosis / Q000235:genetics; D012512:Sarcoma, Ewing / Q000175:diagnosis / Q000235:genetics; D013584:Sarcoma, Synovial / Q000175:diagnosis / Q000235:genetics; D012680:Sensitivity and Specificity; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D015342:DNA Probes