MUDr. Ondřej Daum DIFERENCIÁLNÍ DIAGNOSTIKA VŘETENOBUNĚČNÝCH LÉZÍ TRÁVICÍHO TRAKTU DIFFERENTIAL DIAGNOSTICS OF SPINDLE CELL LESIONS OF THE DIGESTIVE TRACT UNIVERZITA KARLOVA V PRAZE LÉKAŘSKÁ FAKULTA V PLZNI Šiklův ústav patologie FN a LF UK Plzeň, 2006 1 Dizertační práce byla zpracována v rámci kombinované formy postgraduálního studia na Šiklově ústavu patologie FN a LF UK v Plzni v letech 2004-2006. Doktorand: MUDr. Ondřej Daum Školitel: Doc. MUDr. Ondřej Hes, PhD. docent Lékařské fakulty UK, Šiklův ústav patologie FN a LF UK v Plzni Oponenti: Prof. MUDr. Václav Mandys, CSc. přednosta Ústavu patologie FN Královské Vinohrady a 3. LF UK v Praze Doc. MUDr. Jiří Ehrmann, PhD. docent Lékařské fakulty UP, Ústav patologie FN a LF UP v Olomouci Doc. MUDr. Josef K. Zámečník, PhD. docent Lékařské fakulty UK, Ústav patologie FN Motol a 2. LF UK v Praze Stanoviska k dizertaci vypracovala Lékařská fakulta UK v Plzni. Autoreferát byl odeslán dne .......................................................... Obhajoba se koná dne .................................... 2007 v ....................... hod. před komisí pro obhajoby doktorských dizertací v oboru patologická anatomie v...................................................................................................... S dizertační prací je možné se seznámit na...

Daum O., Grossmann P., Vanecek T., Sima R., Mukensnabl P., Michal M. (2006): Diagnostic morphological features of PDGFRA-mutated gastrointestinal stromal tumors: Molecular genetic and histological analysis of 60 cases of gastric GISTs. Ann. Diagn. Pathol. In Press Summary In this study, 60 gastrointestinal stromal tumors (GISTs) of the stomach were analyzed to elucidate the possible relation of their morphology to mutation status of KIT and PDGFRA genes. The patients included 27 men and 33 women with a mean age of 63,8 years (range 12 to 92). Only one tumor occurred before the age of 21 years. KIT mutations were detected in 31 cases (51,7%), PDGFRA mutations in 22 cases (36,7%), and seven cases (11,7%) were KIT and PDGFRA wild type. When the mutation status was correlated with histological features of the tumors, epithelioid or mixed epithelioid/spindle cell pattern and mast cell infiltration were found as the most reliable signs of PDGFRA mutation. Neoplastic rhabdoid cells and multinucleated giant cells, also previously reported as features of PDGFRA mutated GISTs, seemed to be less specific but still helpful markers in our study. Finally, tumor infiltrating lymphocytes and myxoid stroma do not seem to be valuable histological signs. Daum O., Klecka J., Ferda J., Treska V., Vanecek T., Sima R., Mukensnabl...