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    Gastrointestinal stromal tumor with multiple primary tyrosine kinase mutations-clinicopathologic and molecular characterization.

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    Authors
    Wong, N
    Taniere, P
    Walsh, S
    Wallace, A
    Nonaka, Daisuke
    Jones, T
    Gonzalez, D
    Affiliation
    Department of Cellular Pathology, Southmead Hospital, Bristol
    Issue Date
    2018-05-04
    
    Metadata
    Show full item record
    Abstract
    A unique cohort of chemo-naive gastrointestinal stromal tumors (GISTs) with double-primary tyrosine kinase mutations was characterized particularly to determine whether coexistent mutations represent a single mutational event. Up to 2013, 4 UK centers reported 9 GISTs with 2 primary tyrosine kinase mutations. In each of 8 cases validated by next generation sequencing, both mutations were present in the same allele of the same exon (KIT exon 11 or 17, or PDGFRA exon 18). One case showed the second mutation only on some of the mutant alleles. Seven cases showed both mutations in all the reads, but in 2 cases, additional variants were found only in some reads. Clinicopathologic features of the 8 cases were similar to GISTs with single-primary mutations. When GIST genotyping rarely uncovers multiple tyrosine kinase variants in an exon, they occur in the same allele but are likely to represent separate mutational events and lack clinical significance.
    Citation
    Gastrointestinal stromal tumor with multiple primary tyrosine kinase mutations-clinicopathologic and molecular characterization. 2018, Appl Immunohistochem Mol Morphol
    Journal
    Applied Immunohistochemistry & Molecular Morphology
    URI
    http://hdl.handle.net/10541/621044
    DOI
    10.1097/PAI.0000000000000660
    PubMed ID
    29734250
    Type
    Article
    Language
    en
    ISSN
    1533-4058
    ae974a485f413a2113503eed53cd6c53
    10.1097/PAI.0000000000000660
    Scopus Count
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