ABSTRACT
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal-derived tumors of the gastrointestinal tract. Tyrosine kinase inhibitors (TKIs) are the cornerstone of GIST therapy, but mutations in resistance genes pose many problems for treatment, especially the heterogeneity of KIT resistance mutations. In recent years, with the release of a number of GIST related drug research and experimental results, the great potential of targeted therapy, immunotherapy and combination therapy to treat GIST in different directions has been revealed, providing more therapeutic directions for GIST. This article will review the experimental research and future direction in recent years.
ABSTRACT
Los tumores estromales del tracto gastrointestinal (GIST), aunque infrecuentes, son tumores mesenquimatosos importantes de origen mesodérmico. Macroscópicamente se presentan como una masa intramural submucosal, siendo los mas comunes dentro de los tumores mesenquimatosos. La forma maligna, típicamente agresiva y resistente al tratamiento, es afortunadamente rara. Un importante avance ha sido la caracterización del marcador oncogénico KIT y su relación a la patogénesis del Tumor Estromal Gastrointestinal. Sin embargo, recientes investigaciones han demostrado la génesis de los GIST que son KIT negativos. Por lo tanto, la positividad del marcador oncogénico KIT, si bien es altamente sensible, no es requerimiento indispensable para el diagnóstico de GIST. Presentamos nuestra paciente con un GIST del intestino delgado y negatividad al c-KIT(CD 117).
Gastrointestinal stromal tumors (GIST) are uncommon but important mesenchymal tumors of the Gastrointestinal Tract, defined as being of mesodermal origin. Macroscopically they present as intramural submucosal masses, being the most common mesenchymal tumors to arise from the gastrointestinal tract. The malignant form, typically aggressive and resistant to treatment, in fortunately rare. An important development has been the characterization of the oncogene marker KIT, and its relation to the pathogenesis of GIST. However recent research has shed light on the genesis of GIST that is KIT negative. KIT is highly sensitive for GIST (though not 100%) but is not a marker of malignancy or essential requirement to the diagnosis of GIST. We show a patient with a GIST of the small intestine, KIT- negative.