Question

Genomic profiling in GIST.

Hint:

Genomic profiling allows for personalized treatment strategies in GIST, improving treatment efficacy and providing prognostic information.

Answer 1

Genomic profiling in gastrointestinal stromal tumors (GISTs) involves analyzing the genetic mutations and alterations present in tumor cells, which helps in diagnosing, predicting prognosis, and selecting the appropriate treatment.
Step 1: Importance of Genomic Profiling in GIST:
1. Identification of Mutations: GISTs are often characterized by mutations in the KIT or PDGFRA genes, and genomic profiling helps identify these mutations.
2. Targeted Therapy: Genomic profiling allows clinicians to tailor targeted therapies such as imatinib for patients with KIT mutations, improving treatment outcomes.
Step 2: Techniques Used in Genomic Profiling:
1. Next-Generation Sequencing (NGS): NGS is commonly used to detect specific mutations in GISTs, including KIT and PDGFRA.
2. Fluorescence In Situ Hybridization (FISH): FISH can detect chromosomal rearrangements and is used to identify KIT and PDGFRA gene alterations.
Step 3: Benefits of Genomic Profiling:
1. Personalized Treatment: It enables the use of targeted therapies based on the genetic characteristics of the tumor.
2. Prognostic Information: Genomic profiling provides insights into the prognosis by identifying mutations associated with aggressive tumor behavior.