PMID- 21128778 OWN - NLM STAT- MEDLINE DCOM- 20110106 LR - 20210527 IS - 1543-2165 (Electronic) IS - 0003-9985 (Linking) VI - 134 IP - 12 DP - 2010 Dec TI - Utilization of fluorescence in situ hybridization in the diagnosis of 230 mesenchymal neoplasms: an institutional experience. PG - 1797-803 AB - CONTEXT: Mesenchymal neoplasms harbor characteristic translocations and amplification of gene regions amenable to evaluation by fluorescence in situ hybridization (FISH). OBJECTIVE: To determine the utility of FISH in the diagnosis of mesenchymal neoplasms. DESIGN: Two hundred thirty soft tissue cases analyzed by FISH were reviewed retrospectively. RESULTS: Morphologic patterns where FISH was used included high-grade round cell sarcomas (n = 67), nonmyogenic spindle cell sarcomas (n = 40), low-grade myxoid neoplasms (n = 34), adipocytic neoplasms (n = 20), and melanocytic neoplasms (n = 19). Fifty cases did not fit into the previously mentioned categories. SYT FISH (96% of monophasic synovial sarcomas were positive; 0% of malignant peripheral nerve sheath tumor were positive) and DDIT3 FISH (100% of myxoid/round cell liposarcomas; no other neoplasm positive) were very sensitive and specific. EWSR1 FISH was very sensitive and specific in the differential diagnosis of melanocytic neoplasms (88% of clear cell sarcomas were positive; all melanomas were negative). EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1. FUS FISH was very sensitive in detecting low-grade fibromyxoid sarcomas (91% positive) but not specific because most myxoid/round cell liposarcomas also contain rearrangements of FUS. All atypical lipomatous tumors were positive for amplification of MDM2, whereas all lipomas were negative. FOXO1A FISH was positive in approximately 70% of cases of alveolar rhabdomyosarcoma. CONCLUSION: FISH is a useful adjunct in the diagnosis of mesenchymal neoplasms. FAU - Tanas, Munir R AU - Tanas MR AD - Department of Pathology, Cleveland Clinic, Ohio, USA. FAU - Rubin, Brian P AU - Rubin BP FAU - Tubbs, Raymond R AU - Tubbs RR FAU - Billings, Steven D AU - Billings SD FAU - Downs-Kelly, Erinn AU - Downs-Kelly E FAU - Goldblum, John R AU - Goldblum JR LA - eng PT - Journal Article PL - United States TA - Arch Pathol Lab Med JT - Archives of pathology & laboratory medicine JID - 7607091 RN - 0 (Biomarkers, Tumor) SB - IM MH - Biomarkers, Tumor/metabolism MH - Chromosome Aberrations MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Melanoma/*diagnosis/genetics/metabolism MH - Molecular Diagnostic Techniques MH - Neoplasms, Adipose Tissue/*diagnosis/genetics/metabolism MH - Sarcoma/*diagnosis/genetics/metabolism MH - Soft Tissue Neoplasms/*diagnosis/genetics/metabolism EDAT- 2010/12/07 06:00 MHDA- 2011/01/07 06:00 CRDT- 2010/12/07 06:00 PHST- 2010/12/07 06:00 [entrez] PHST- 2010/12/07 06:00 [pubmed] PHST- 2011/01/07 06:00 [medline] AID - 10.1043/2009-0571-OAR.1 [pii] AID - 10.5858/2009-0571-OAR.1 [doi] PST - ppublish SO - Arch Pathol Lab Med. 2010 Dec;134(12):1797-803. doi: 10.5858/2009-0571-OAR.1.