[Gastrointestinal stromal tumors. Diagnosis and estimating aggressiveness]

Abstract

A diagnosis of gastrointestinal stromal tumor must be considered if a mesenchymal tumor is localized in the gastrointestinal tract, especially in the stomach. In daily practice diagnosis is based on the histology (cellular features and histologic architecture) and immunohistochemistry (cellular positivity with antibodies to CD117 and often to CD34). Expression of CD117 indicates the autoactivation of a type-III-receptor tyrosine kinase mediated by mutation of the KIT gene. This is lacking in the roughly 5% of cases which instead show a mutation of the PDGF receptor alpha gene. The estimation of dignity is difficult and can be uncertain in some cases. A malignancy grading according to the procedure in soft tissue tumors is not possible. Nowadays, however, the general consensus is that size of the tumor and number of mitoses are the most important criteria for appraising tumor aggressiveness and risk of metastasis. The tumor localization was later added to these criteria. Recent years have shown that mutation analysis can also provide information for judging tumor aggressiveness and predicting possible metastasis and response to therapy.