ZERBO Giulia

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Supervisore: Dr.ssa Maestro

Definition of molecular determinants in microGIST to GIST progression

Gastrointestinal Stromal tumors are the most common sarcomas of the gastrointestinal tract. GIST can be diverse in size: microGISTs, lesions smaller than 2 cm, are remarkably common and usually remain indolent; bulky masses are rarer and can be assessed as malignant tumors associated to high risk for metastasis. Interestingly, both microGIST and GIST carry the same driver mutations, suggesting that alone they are insufficient to promote a malignant phenotype. The aim of the work is to characterize the molecular mechanisms and genetic alterations that sustain GIST malignant evolution. For that purpose, we will perform whole transcriptome sequencing to analyze Differentially Expressed Genes and pathways in microGISTs vs GISTS; mutational analysis will be carried out to identify mutations contributing to microGISTs to GISTs evolution.
A fraction of GIST is currently “driver gene unknown” and still lacks evidence-based treatment strategies. DNA variants will be explored to characterize molecular drivers of this subset of GIST.