title: Detection of HEY1-NCOA2 fusion by fluorescence in-situ hybridization in formalin-fixed paraffin-embedded tissues as a possible diagnostic tool for mesenchymal chondrosarcoma.
abstract: Mesenchymal chondrosarcoma (MC) is an extremely rare subtype of chondrosarcoma. A tumor specific fusion gene, HEY1-NCOA2 fusion, was recently identified in this tumor. The finding raises the possibility that the diagnosis of MC can be improved by examining the fusion gene. In the present study, we aimed to evaluate the efficacy of fluorescence in situ hybridization (FISH) in detecting HEY1-NCOA2 fusion for the diagnosis of MC. Specimens from 10 patients diagnosed with MC were used for the study. Dual-color FISH was performed using two different probes that specifically hybridize to HEY1 and NCOA2, respectively. Fusion signals were identified in all but two specimens, in which no signal was detected, presumably because of inadequate sample preparation. In accordance with results of a previous study, FISH analysis was highly sensitive in detecting HEY1-NCOA2 fusion in adequately prepared MC samples. The current study adds further support for the use of HEY1-NCOA2 fusion as a valid diagnostic marker for MC.
authors.affiliation: Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Robert
authors.initials: R
authors.lastname: Nakayama
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Miura
authors.forename: Jiro
authors.initials: J
authors.lastname: Ogino
authors.forename: Michiro
authors.initials: M
authors.lastname: Susa
authors.forename: Itsuo
authors.initials: I
authors.lastname: Watanabe
authors.forename: Keisuke
authors.initials: K
authors.lastname: Horiuchi
authors.forename: Ukei
authors.initials: U
authors.lastname: Anazawa
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Toyama
authors.forename: Hideo
authors.initials: H
authors.lastname: Morioka
authors.forename: Makio
authors.initials: M
authors.lastname: Mukai
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000293:Adolescent; D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins / Q000032:analysis* / Q000235:genetics; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000235:genetics; D018797:Cell Cycle Proteins / Q000032:analysis* / Q000235:genetics; D018211:Chondrosarcoma, Mesenchymal / Q000175:diagnosis* / Q000235:genetics; D005557:Formaldehyde; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D051958:Nuclear Receptor Coactivator 2 / Q000032:analysis / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000032:analysis* / Q000235:genetics; D016612:Paraffin Embedding; D016707:Tissue Fixation; D055815:Young Adult
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D018797:Cell Cycle Proteins; D005557:Formaldehyde; D051958:Nuclear Receptor Coactivator 2; D015514:Oncogene Proteins, Fusion; C485631:HEY1 protein, human; C498001:NCOA2 protein, human