Molecular analysis of c-Kit and PDGFRA in GISTs diagnosed by EUS

• Type: Article in International Scientific Journal
• Date: 2007

Authors

Gomes, AL (Author) Other; Bardales, RH (Author) Other; Milanezi, F (Author) Other; Reis, RM (Author) Other; Fernando Schmitt (Author) FMUP

Journal

Title: American Journal of Clinical Pathology

Vol. 127

Pages: 89-96

ISSN: 0002-9173

Publisher: Oxford University Press

Indexing

ISI Web of Knowledge - 58 Citations

Scopus - 70 Citations

Other information

Authenticus ID: P-004-CDN

DOI: 10.1309/m1ec8je9acamjacu

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8