Spindle cell liposarcoma with a TRIO-TERT fusion transcript.
Conventional well-differentiated, dedifferentiated, and myxoid liposarcomas have long been known to harbor numerous typical genetic alterations that allow for diagnosis of these tumors. These include MDM2 and CDK4 amplification in well-differentiated and dedifferentiated liposarcomas as well as FUS-...
| Published in: | Virchows Archiv: European Journal of Pathology Vol. 475; no. 3; pp. 391 - 395 |
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| Main Authors: | , , , , , , |
| Format: | case study Journal Article |
| Published: |
Springer Nature
Sep2019
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=138200703&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 138200703 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09456317 O1Z jtl: Virchows Archiv: European Journal of Pathology issn: 09456317 maglogo: N pubinfo: dt: Sep2019 vid: 475 iid: 3 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 138200703 138200703 144076019 NLM30793229 138200703 10.1007/s00428-019-02545-5 NLM30793229 138200703 ppf: 391 ppct: 4 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Spindle cell liposarcoma with a TRIO-TERT fusion transcript. aug: au: Suster, David I. Deshpande, Vikram Chebib, Ivan Taylor, Martin S. Mullen, John Bredella, Miriam A. Nielsen, G. Petur affil: Massachusetts General Hospital, Department of Pathology, Harvard Medical School, Warren 2, 55 Fruit Street, 02214, Boston, MA, USA sug: subj: Sarcoma Liposarcoma Pathology Transferases Transferases Metabolism Genes Liposarcoma Sarcoma Pathology Female Proteins Aged Proteins Metabolism Soft Tissue Neoplasms Aged: 65+ years Female ab: Conventional well-differentiated, dedifferentiated, and myxoid liposarcomas have long been known to harbor numerous typical genetic alterations that allow for diagnosis of these tumors. These include MDM2 and CDK4 amplification in well-differentiated and dedifferentiated liposarcomas as well as FUS-DDIT3 rearrangements in myxoid liposarcoma. More recently, in-frame TRIO-TERT fusion genes have been described in a subset of non-translocation-related sarcomas including myxofibrosarcoma, dedifferentiated liposarcoma, undifferentiated pleomorphic sarcoma, pleomorphic rhabdomyosarcoma, and leiomyosarcoma. These genetic rearrangements lead to TERT mRNA expression levels hundreds of times higher than normal, causing increased telomerase activation in these tumors. Herein, we describe an unusual case of a liposarcoma with spindle cell features and a TRIO-TERT fusion transcript identified through next-generation sequencing. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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