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Clinical implications of KIT and PDGFRA genotyping in GIST

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  • Current Technology in Cancer Research and Treatment
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Abstract

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs are characterised by the expression of KIT, a type III tyrosine kinase receptor, and the presence of mutations in KIT or PDGFRA in about 80–85% of cases. The primary treatment for GIST is surgery, which cures most patients with low- or intermediate-risk tumours. The introduction of the kinase inhibitor imatinib mesylate, and sunitinib in second line, against KIT and PDGFRA has provided the first evidence of directed therapy in GIST. The aim of this review is to highlight the growing evidence that KIT and PDGFRA genotyping provides valuable information for the clinical management of GIST patients. We show that KIT and PDGFRA genotyping has emerged as one of the principal factors in the evaluation of GISTs, particularly in those tumours that are clearly malignant or have a high risk of recurrence. In addition to helping establish the diagnosis of GIST in unusual cases, genotyping can be very useful to physicians and patients in deciding on imatinib dose, in estimating the likelihood and duration of benefit, and potentially in selecting second-line therapies.

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Authors and Affiliations

  1. Sarcoma and Melanoma Unit Department of Oncology, Son Dureta Hospital, C/ Andrea Doria, 55, ES-07014, Palma de Mallorca, Baleares, Spain

    Javier Martín-Broto

  2. Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, Valencia, Spain

    Luis Rubio & José Antonio López-Guerrero

  3. Group of Clinical and Translational Research, Institut Universitari d’Investigacions en Ciències de la Salut (IUNICS), University of the Balearic Island, Palma de Mallorca, Baleares, Spain

    Regina Alemany

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  1. Javier Martín-Broto
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  2. Luis Rubio
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  3. Regina Alemany
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  4. José Antonio López-Guerrero
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Correspondence to Javier Martín-Broto.

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Martín-Broto, J., Rubio, L., Alemany, R. et al. Clinical implications of KIT and PDGFRA genotyping in GIST. Clin Transl Oncol 12, 670–676 (2010). https://doi.org/10.1007/s12094-010-0576-7

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  • DOI: https://doi.org/10.1007/s12094-010-0576-7

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