Untersuchungen zur Genetik von Speicheldrüsentumoren

Abstract

We have analyze the recently for mucoepidermoid carcinoma (MEC) and Warthin's tumor (WAT) described gene fusion CRTC1-MAML2 for its diagnostic potential as biomarker and to find out if an aberrant HMGA2 expression level influence tumorgenesis of MECs. Our studies have shown that a CRTC1-MAML2 test is a powerful tool for diagnosis and prognosis of MECs. The fusion correlates with a low- or intermediate-grade of the tumor and is associated with a favorable prognosis. CRTC1-MAML2 negative tumors were mainly found in high-grade tumors and show a significant increased HMGA2 level. These data raise doubts about the correct classification of MECs into low-, intermediate- and high-grade tumors. In our opinion the present classification of MECs includes two subgroups: A huge group of "true-MECs" with the CRTC1-MAML2 fusion, with a moderate aggressiveness and furthermore a group of morphological heterogeneous tumors lacking this fusion and with an aberrantly high HMGA2 expression level.