Gastrointestinal Stromal Tumors Short Review on KIT/PDGFRA Gene Mutations and Molecular Therapy

Abstract

Gastrointestinal stromal tumors (GISTs) are most frequent mesenchimal neoplasms of the gastrointestinal tract. Current knowledge demonstrates that the KIT and PDGFRA gene mutations play a central part in the pathogenesis. Mutations can be subdivided into primary and secondary mutations. Secondary mutations usually occur in KIT kinase domains after tyrosine kinase inhibitors treatment resulting in resistance to drugs. Besides surgery, therapy with tyrosine kinase inhibitors has led to develop novel treatments for patients now. However, secondary resistance has become a significant concern, illustrating the need to increase collaboration between surgical management and molecular therapy.

Tumor del estroma gastrointestinal como causa de hemorragia del tubo digestivo: presentación de un caso

“…Con el advenimiento de la inmunohistoquímica, el GIST se definió como una neoplasia derivada de células madre mesenquimales pluripotenciales programadas para diferenciarse en células intersticiales de Cajal positivas al marcador KIT (CD117) y PDGFRA. 2,[6][7][8][9][10][11] Debido a su amplia distribución, la mayor parte de estos tumores se diagnostica de manera fortuita en estudios rutinarios de imagen o durante alguna cirugía. Los sitios más comunes de localización son el estómago (50-60%) y el intestino delgado (30%).…”