Genetics/Molecular diagnostics • Glioma - Center Foundation
The results of research in the field of oncological molecular diagnostics are gradually becoming more and more meaningful in the therapeutic process of patients with glioma. However, molecular analysis is still too rare and its results are not always translated into the optimization of treatment through a personalized approach. This is among other things why, within the framework of the “Learn more about tumor” project, we strive for necessary changes. The purpose of molecular diagnostics is to learn more about the tumor – genetic alterations, promoter methylation, expression profile.
Before choosing a laboratory (if it is not chosen by a hospital), it is necessary to consider whether the markers which are to be verified in the panel, can be translated into therapeutic modalities. In glioma, the number of mutations for which there are drugs studied in clinical trials is not significant. Consequently, the most important is to mark everything that can help oncologists in treatment decisions. One of the Foundation’s overarching goals is to develop, together with the medical community, recommendations describing the relationship between results that can be brought by molecular diagnostics and treatment modalities. It is not the most important to mark several hundred accidental markers that will not translate into any treatment but to mark all those that can influence decisions about therapeutic options.
Molecular diagnostics – laboratories and costs
However, before patient decides on a paid examination, it should be verified what can be done under insurance in a given country.
Polish version of our portal describes in details reimbursable options in Poland (here)
Spreadsheet
Should MGMT methylation be checked?
If MGMT methylation in the tumor is confirmed, studies demonstrate the expectation of higher effectiveness of TMZ:
In some centers (eg. The German clinic in Heidelberg) availability of biopsy material, which makes it possible to establish methylation, is decisive as far as using or not using TMZ in child therapy is concerned. In many foreign institutions lack of methylation data means abolishing TMZ in the treatment of children with diffuse glioblastoma, as retrospective research demonstrates that a great majority of those tumors ate non-methylated, which means that the cost, i.e. side effects, would be higher than the advantage.
Summary
01
The right spectrum of genetic mutations
02
MGMT promoter methylation
03
EGFR expression
04
inhibitor receptors of t lymphocyte: CTLA-4 receptor expression on regulatory T cells and CD8+lymophocytes, CTLA4genetic variant, receptor PD-1, test showing possible production of PD1 – L protein in the tumor
05
genes of the main histocompatibility system of (MHC), in particular, HLA-A2 (blood test)
06
CMV