Molecular Analysis of c-Kit and PDGFRA in GISTs Diagnosed by EUS  

Oleh:

Gomes, Ana L. ; Bardales, Ricardo H. ; Milanezi, Fernanda ; Reis, Rui M. ; Schmitt, Fernando

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: American journal of Clinical Pathology vol. 127 no. 1 (Jan. 2007), page 89 - 96 .
Topik: Endoscopic ultrasound-guided fine-needle aspiration; c-Kit; Platelet-derived growth factor?; PDGFRA; Gastrointestinal stromal tumor; GIST; Mutations

Ketersediaan

Perpustakaan FK Nomor Panggil: A08.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Gastrointestinal stromal tumors (GISTs) are characterized by overexpression and mutations of c-Kit. Approximately 80% of c-Kit mutations occur in exon 11, 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.

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