Pleural mesothelioma. Cytology and molecular diagnostics

Abstract

The definitive diagnosis of malignant mesothelioma (MM) in effusion cytology is often avoided or reluctantly made by cytology alone. The most probable reason for this skepticism is the lack of expertise in cytology among many pathologists and clinicians. When an effusion specimen is composed of cells with unequivocal cytological features of malignancy that have the morphology and immunophenotype of mesothelial cells, the cytological diagnosis of MM is straightforward. However, in the daily routine difficult cases of atypical mesothelial cells are often encountered and additional methods are required to establish an accurate diagnosis. In contrast to reactive mesothelial cells cells of MMs often harbor chromosomal aberrations, most frequently a polysomy in combination with a 9p21 deletion. These chromosomal aberrations can easily be detected by multitarget fluorescence in situ hybridization (FISH); therefore, FISH allows a reliable distinction between reactive mesothelial cells and MM cells. In order to be able to discriminate between MM and adenocarcinoma, an immunocytochemical panel consisting of different mesothelial and epithelial markers is very helpful. In most inconclusive cases of atypical mesothelial cells the combination of morphology, immunocytochemistry and FISH allows a better distinction between reactive mesothelial cells and MM in effusion cytology.