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  1. Article ; Online: A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping.

    Zou, Ying S / Klausner, Melanie / Ghabrial, Jen / Stinnett, Victoria / Long, Patty / Morsberger, Laura / Murry, Jaclyn B / Beierl, Katie / Gocke, Christopher D / Xian, Rena R / Toomer, Kevin H / Ye, Jing Christine / Orlowski, Robert Z / Huff, Carol Ann / Ali, Syed Abbas / Imus, Philip H / Gocke, Christian B / Tang, Guilin

    Blood cancer journal

    2024  Volume 14, Issue 1, Page(s) 78

    MeSH term(s) Humans ; Multiple Myeloma/genetics ; Multiple Myeloma/diagnosis ; Chromosome Mapping ; Chromosome Aberrations
    Language English
    Publishing date 2024-05-03
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 2600560-8
    ISSN 2044-5385 ; 2044-5385
    ISSN (online) 2044-5385
    ISSN 2044-5385
    DOI 10.1038/s41408-024-01059-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Complex/cryptic

    Zou, Ying S / Morsberger, Laura / Hardy, Melanie / Ghabrial, Jen / Stinnett, Victoria / Murry, Jaclyn B / Long, Patty / Kim, Andrew / Pratilas, Christine A / Llosa, Nicolas J / Ladle, Brian H / Lemberg, Kathryn M / Levin, Adam S / Morris, Carol D / Haley, Lisa / Gocke, Christopher D / Gross, John M

    Genes

    2023  Volume 14, Issue 6

    Abstract: Ewing sarcomas (ES) are rare small round cell sarcomas often affecting children and characterized by gene fusions involving one member of the FET family of genes ( ... ...

    Abstract Ewing sarcomas (ES) are rare small round cell sarcomas often affecting children and characterized by gene fusions involving one member of the FET family of genes (usually
    MeSH term(s) Humans ; Sarcoma, Ewing/genetics ; RNA-Binding Proteins/genetics ; Calmodulin-Binding Proteins/genetics ; Translocation, Genetic ; Bone Neoplasms/genetics ; Sarcoma/genetics ; Chromosome Aberrations ; Aneuploidy ; Gene Fusion ; Transcriptional Regulator ERG/genetics ; RNA-Binding Protein EWS/genetics
    Chemical Substances RNA-Binding Proteins ; Calmodulin-Binding Proteins ; ERG protein, human ; Transcriptional Regulator ERG ; EWSR1 protein, human ; RNA-Binding Protein EWS
    Language English
    Publishing date 2023-05-24
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14061139
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas

    Zou, Ying S. / Morsberger, Laura / Hardy, Melanie / Ghabrial, Jen / Stinnett, Victoria / Murry, Jaclyn B. / Long, Patty / Kim, Andrew / Pratilas, Christine A. / Llosa, Nicolas J. / Ladle, Brian H. / Lemberg, Kathryn M. / Levin, Adam S. / Morris, Carol D. / Haley, Lisa / Gocke, Christopher D. / Gross, John M.

    Genes (Basel). 2023 May 24, v. 14, no. 6

    2023  

    Abstract: Ewing sarcomas (ES) are rare small round cell sarcomas often affecting children and characterized by gene fusions involving one member of the FET family of genes (usually EWSR1) and a member of the ETS family of transcription factors (usually FLI1 or ERG) ...

    Abstract Ewing sarcomas (ES) are rare small round cell sarcomas often affecting children and characterized by gene fusions involving one member of the FET family of genes (usually EWSR1) and a member of the ETS family of transcription factors (usually FLI1 or ERG). The detection of EWSR1 rearrangements has important diagnostic value. Here, we conducted a retrospective review of 218 consecutive pediatric ES at diagnosis and found eight patients having data from chromosome analysis, FISH/microarray, and gene-fusion assay. Three of these eight ES had novel complex/cryptic EWSR1 rearrangements/fusions by chromosome analysis. One case had a t(9;11;22)(q22;q24;q12) three-way translocation involving EWSR1::FLI1 fusion and 1q jumping translocation. Two cases had cryptic EWSR1 rearrangements/fusions, including one case with a cryptic t(4;11;22)(q35;q24;q12) three-way translocation involving EWSR1::FLI1 fusion, and the other had a cryptic EWSR1::ERG rearrangement/fusion on an abnormal chromosome 22. All patients in this study had various aneuploidies with a gain of chromosome 8 (75%), the most common, followed by a gain of chromosomes 20 (50%) and 4 (37.5%), respectively. Recognition of complex and/or cryptic EWSR1 gene rearrangements/fusions and other chromosome abnormalities (such as jumping translocation and aneuploidies) using a combination of various genetic methods is important for accurate diagnosis, prognosis, and treatment outcomes of pediatric ES.
    Keywords aneuploidy ; chromosomes ; cytogenetic analysis ; fish ; gene fusion ; genes ; microarray technology ; prognosis
    Language English
    Dates of publication 2023-0524
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14061139
    Database NAL-Catalogue (AGRICOLA)

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