Onkológia 4/2013

Personalised medicine and cancer of unknown primary

Personalization of diagnosis, therapy and therapy monitoring is still big clinical challenge in cancer of unknown primary. Standard schemes for tumor diferential diagnosis and therapy monitoring based on immunohistochemistry are not sensitive and specific enough. Moreover ongoing therapy monitoring is based on analysis of repeated invasive biopsies of tumors, which are usually unatteinable. On the other hand in recent studies high specificity and sensitivity levels were reached using the molecular diagnostic methods. These were accurate not only in localization of primary tumor site, which is necessary for selection of optimal site-specific therapy, but also were able to determine „driver“ mutations in tumors and so directly specified candidates for targeted therapeutical approach. Most recent research in the field of noninvasive analysis of circulating nucleic acids revealed the possibility of utilization of state-of-art molecular methods, represented by multiparallel sequencing, in analysis of „liquid“ biopsies, which are crucial for optimization of therapy, because of phenomena of tumour heterogeneity and evolution.

Keywords: cancers of unknown primary, personalised therapy, molecural diagnosis, noninvasive diagnosis, multiparallel resequencing, liquid biopsies.