Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/48383

TitleMolecular analysis of c-Kit and PDGFRA in GISTs diagnosed by EUS
Author(s)Gomes, Ana L.
Bardales, Ricardo H.
Milanezi, Maria Fernanda Grillo
Reis, R. M.
Schmitt, Fernando
KeywordsEndoscopic ultrasound-guided fine-needle aspiration
c-Kit
Platelet-derived growth factor-α
PDGFRA
Gastrointestinal stromal tumor
GIST
Mutations
Issue date2007
PublisherAmerican Society for Clinical Pathologists (ASCP)
JournalAmerican Journal of Clinical Pathology
Abstract(s)Gastrointestinal stromal tumors (GISTs) are characterized by overexpression and mutations of c-Kit. Approximately 80% of c-Kit mutations occur in exon H, being a response factor to imatinib (Gleevec) therapy. Mutations of platelet-derived growth factor receptor-a (PDGFRA) are observed in a subset of GISTs lacking c-Kit mutations. We aimed to assess whether c-Kit and PDGFRA mutation analysis of GISTs obtained by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) could be routinely performed. Mutation analysis of c-Kit hotspot exons (9, 11, 13, and 17) and PDGFRA hotspot exons (12 and 18) was performed in aspirates of 33 GISTs and 18 non-GIST mesenchymal tumors. Of the GIST cases, 19 (58%) of 33 contained a mutation in exon 11, 1 (3%) in exon 9, and none in exons 13 and 17. No activating c-Kit mutations were identified in non-GIST cases. No PDGFRA mutation was detected. Mutation analysis is possible in these FNA cell blocks and can assist in the diagnosis and therapeutic decisions in GIST cases.
TypeArticle
URIhttp://hdl.handle.net/1822/48383
DOI10.1309/M1EC8JE9ACAMJACU
ISSN1943-7722
e-ISSN0002-9173
Publisher versionhttp://ajcp.ascpjournals.org/content/127/1/89.long
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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