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-...

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Published in:Virchows Archiv: European Journal of Pathology Vol. 475; no. 3; pp. 391 - 395
Main Authors: Suster, David I., Deshpande, Vikram, Chebib, Ivan, Taylor, Martin S., Mullen, John, Bredella, Miriam A., Nielsen, G. Petur
Format: case study Journal Article
Published: Springer Nature Sep2019
Online Access:View this record in EBSCOhost
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      dt: Sep2019
      vid: 475
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      pub: Springer Nature
      place: New York, New York
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        10.1007/s00428-019-02545-5
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        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
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