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|Title:||Molecular 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.
|Keywords:||Endoscopic ultrasound-guided fine-needle aspiration|
Platelet-derived growth factor-α
Gastrointestinal stromal tumor
|Publisher:||American Society for Clinical Pathologists (ASCP)|
|Journal:||American 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.|
|Appears in Collections:||ICVS - Artigos em Revistas Internacionais com Referee|
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