Gastrointestinal stromal tumors: advances in molecular characterization and therapeutic implications

ABSTRACT

Recognition of the molecular basis of gastrointestinal stromal tumors has paved the way for significant breakthroughs in the diagnosis and treatment of this disease as well as positioned gastrointestinal stromal tumors as a framework for the concept of precision oncology in solid tumors. The incorporation of novel targeted agents for molecularly defined subgroups has led to significant improvements in treatment outcomes; however, the characterization of heterogeneous KIT or PDGFRA mutations and the emergence of resistance mechanisms highlight the need for a broader use of comprehensive molecular profiling and emphasize the importance of molecularly driven adaptive treatment strategies. Such a molecular background is critical for developing personalized and effective interventions and optimizing outcomes. The present review summarizes key studies that provide the basis for standard-of-care management options as well as provides molecular insights into the management of gastrointestinal stromal tumors, with an emphasis on recent advances.

RESUMO

O reconhecimento da base molecular dos tumores estromais gastrointestinais abriu caminho para avanços significativos no diagnóstico e tratamento desta doença, bem como posicionou os tumores estromais gastrointestinais como uma estrutura para o conceito de oncologia de precisão em tumores sólidos. A incorporação de novos agentes direcionados para subgrupos definidos molecularmente levou a melhorias significativas nos resultados do tratamento; no entanto, a caracterização de mutações heterogêneas no KIT ou PDGFRA e o surgimento de mecanismos de resistência destacam a necessidade de um uso mais amplo de perfis moleculares abrangentes e enfatizam a importância de estratégias de tratamento adaptativas orientadas molecularmente. Esse contexto molecular é fundamental para o desenvolvimento de intervenções personalizadas e eficazes e para a otimização dos resultados. A presente revisão resume os principais estudos que fornecem a base para opções de tratamento padrão, bem como fornece insights moleculares sobre o tratamento de tumores estromais gastrointestinais, com ênfase nos avanços recentes.

Keywords:

Gastrointestinal Stromal Tumors - Sarcoma - Tyrosine Kinase Inhibitors - Protooncogene proteins c-ki - Platelet-Derived Growth Factor

Descritores:

Tumores Estromais Gastrointestinais - Sarcoma - Inibidores de Tirosina Quinase - Proteínas proto-oncogênicas c-kit - Factor de crescimento derivado de plaquetas

Publikationsverlauf

Eingereicht: 04. Januar 2024

Angenommen: 22. März 2024

Artikel online veröffentlicht:
16. Mai 2024

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