Abstract

Unique amongst most solid malignancies, gastrointestinal stromal tumors (GISTs) are addicted to a few specific oncogenic drivers and are uniformly resistant to cytotoxic chemotherapeutics but sensitive to tyrosine kinase inhibitors (TKIs). Similar to all cancers, GISTs are heterogenous and subclassified into distinct entities according molecular alterations. It is unquestionable that mutational status offers both prognostic as well as predictive value to guide clinical management of GISTs in both advanced/metastatic and curative/(neo)adjuvant settings. One would therefore assume that mutational analysis would be routine and adopted routinely in terms of timing in the clinical management of GIST, but in practice the assessment of mutational analysis is not adopted routinely. In this paper we will discuss the impact of mutational analysis on clinical management of GIST, as well as review currently guidelines for mutational analysis and review possible reasons for lack of uptake of routine testing in practice.