WHAT DOES MOLCULAR DIAGNOSTICS MEAN?
Every tumour is of genetical origin. In 10% it is hereditary (we possess a certain gene malfunction already at our birth), and in 90% the gene malfunction is obtained during our lifetime. The goal of the molecular diagnostics is to identify the malfunctioning genes, the mutations. The examinations are conducted with the help of the most modern diagnostic methods.
From the aspect of precision oncology, it is not that important to know the place of origin of the gene malfunction (for example lung or breast). It is a lot more determinatve to know the type of gene malfunctions that cause the illness. There are approximately 1200 active substances available for the various gene malfunctions, in the form of medication already available on the market and active substances under development (so-called clinical trials).
Out of the 25 000 human genes there are 600 that can cause tumours, and within a tumour there are 4-5 different gene malfunctions in average that are responsible together for abnormal cell divison. Therefore the detailed genetic map of the given tumour is required to make the suitable decision regarding the therapy. The more gene malfunctions are present in the tumour, the more complicated the selection of the molecular point of attack is. One type of gene malfunction can cause sensitivity to a certain therapy, while another type can cause resistance for the same therapy, therefore, the different gene malfunctions have to be analysed together. A targeted therapy can only be safely applied if it is based on the detailed genetic profile of the tumour, the behaviour of the tumour can only be understood on a molecular level. In most cases we examine 600 genes, and there are further special examinations added to the process.
Discovering the malfunctioning genes happens by examining tissue samples gained by surgery or other methods, but in some cases they can be detected from blood samples too. The selection of the method is up to the decision of our board of experts, but most typically the examinations are based on the cancer tissue samples from earlier surgeries, preserved by the pathological institutions and departments.