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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
Platelet-derived growth factor-α
Gastrointestinal stromal tumor
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.
Publisher version
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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