Molecular biologic techniques in cytopathologic diagnosis

Abstract

Molecular diagnosis is an application of the knowledge on molecular mechanisms of disease to diagnosis, therapeutic decision-making, and prognostication. Basically any molecular diagnostic technique could be used in molecular diagnostic cytopathology. Currently applicable molecular techniques in the cytopathology field include PCR based molecular techniques (SSCP, DHPLC, RFLP, LOH, MSI, RT-PCR, QRT-PCR, allele-specific PCR, sequencing, and methylation analysis), FISH, cDNA microarray, aCGH, and reverse-phase protein microarray, etc. Exfoliative cytology as well as fine needle aspiration cytology specimen can be used for analysis. In order to obtain a successful result, collection of target cells without contamination of the blood cells, inflammatory cells including histiocytes, and stromal cells, and a good DNA yield are most important. Molecular diagosis finds its full meaning when interpreted by those who can combine the clinical background of the disease with morphological, immunocytochemical, and molecular diagnostic results. Therefore, these assays would fulfill their full potential when interpreted by the cytopathologists.