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dc.contributor.authorWong, N
dc.contributor.authorTaniere, P
dc.contributor.authorWalsh, S
dc.contributor.authorWallace, A
dc.contributor.authorNonaka, Daisuke
dc.contributor.authorJones, T
dc.contributor.authorGonzalez, D
dc.date.accessioned2018-06-26T20:37:23Z
dc.date.available2018-06-26T20:37:23Z
dc.date.issued2018-05-04
dc.identifier.citationGastrointestinal stromal tumor with multiple primary tyrosine kinase mutations-clinicopathologic and molecular characterization. 2018, Appl Immunohistochem Mol Morpholen
dc.identifier.issn1533-4058
dc.identifier.pmid29734250
dc.identifier.doi10.1097/PAI.0000000000000660
dc.identifier.urihttp://hdl.handle.net/10541/621044
dc.description.abstractA 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.
dc.language.isoenen
dc.rightsArchived with thanks to Applied immunohistochemistry & molecular morphology : AIMMen
dc.titleGastrointestinal stromal tumor with multiple primary tyrosine kinase mutations-clinicopathologic and molecular characterization.en
dc.typeArticleen
dc.contributor.departmentDepartment of Cellular Pathology, Southmead Hospital, Bristolen
dc.identifier.journalApplied Immunohistochemistry & Molecular Morphologyen
html.description.abstractA 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.


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