title: [Gastrointestinal stromal tumor molecular diagnostics in relation to the prediction of a therapeutic response to targeted biological therapy].
abstract: Targeted therapy based on the inhibition of the receptor tyrosine kinases has improved the outcome of patients with metastatic, recurrent and/or unresectable gastrointestinal stromal tumors (GIST). Activating mutations of KITand PDGFRA genes, which code for receptor tyrosine kinases, play an important role in the malignant transformation of stromal cells in the gastrointestinal tract. The response to targeted therapy is associated with the presence and type of mutations. Molecular identification of the primary mutational status became an important tool in predicting the response to therapy (sensibility/resistance). The identification of secondary mutations occurring in patients treated with targeted therapy may explain the cause of acquired, secondary resistance of GIST. In these cases, mutational analysis represents a tool to explain failure of the therapy and provides a rationale for alternative therapeutic strategies.
authors.affiliation: Ustav patologie a molekulární medicíny, 2. LF UK a FN Motol, Praha. alena.augustinakova@fnmotol.cz
authors.forename: A
authors.initials: A
authors.lastname: Augustináková
authors.forename: R
authors.initials: R
authors.lastname: Kodet
mesh_terms: D004252:DNA Mutational Analysis; D005770:Gastrointestinal Neoplasms / Q000188:drug therapy* / Q000235:genetics*; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D058990:Molecular Targeted Therapy; D057089:Pathology, Molecular; D011505:Protein-Tyrosine Kinases / Q000037:antagonists & inhibitors; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha