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Progress in personalized molecular diagnostics in cancer at OncoGen

Romania-Serbia Joint Initiative against Cancer in Cross-Border Region: Improved Diagnosis and Treatment of Malignant Tumors" - ROSECAN

The OncoGen Center organized on October 25, 2019 the third Press Conference of the strategic project "Romania-Serbia joint initiative against cancer in the cross-border region: improving the diagnosis and treatment of malignant tumors - ROSECAN", financed by the Interreg-IPA program CBC Romania – Serbia.

The OncoGen Center has been equipped with all the equipment provided in the project for personalized diagnosis in cancer, by sequencing, currently the procurement procedure is underway for the development of a software dedicated to the diagnosis and treatment of oncological patients, which will be implemented in the cross-border region Romania - Serbia.

Next-generation gene sequencing (NGS) is a modern method used for precision diagnosis and therapy guidance in cancer, both for solid tumors and hematological malignancies. Gene sequencing provides us with information about mutations that occur in tumor cells during the process of tumor development and proliferation. Based on the panel of gene mutations appearing in a patient, he becomes a unique entity, with a personalized molecular diagnosis, thus benefiting from an individualized treatment. The information obtained is interpreted with the help of dedicated computer programs, such as Oncomine, IonReporter or VariantStudio. Through this methodology, new molecular targets existing at the level of tumors can be identified, thus being able to develop therapeutic strategies such as personalized vaccines or cellular immunotherapy.

Gene sequencing does not involve any risk for patients, as this method is performed from the DNA extracted from the paraffin-embedded tissue, after establishing the histopathological diagnosis of the tumor.

Through the gene sequencing program, OncoGen aligns itself with the current international anti-tumor diagnostic and therapeutic standards. Within the ROSECAN project, 3 new generation gene sequencing devices were purchased: Whole genome sequencing system with automatic sample preparation station (Ion Torrent Studio S5 + Ion Chef – ThermoFisher), targeted DNA sequencing system (Personal Genome Machine (PGM) – ThermoScientific) and MiSeq Sequencing System for validation (Illumina). These systems were used to analyze more than 80 samples this year, as follows:

  • 32 samples were analyzed using the PGM system; the obtained results identified gene mutations in 207 hotspots of 50 genes involved in tumorigenesis;
  • 30 samples were analyzed using the Illumina MySeq system, with which we obtained data related to the cancer patient's immune response, namely the number and type of cytotoxic T lymphocyte clones, which are the cells with the ability to destroy tumor cells;
  • 20 samples were analyzed using the Ion Torrent Studio S5 system and automated sample preparation station, identifying more than 89 gene mutations in more than 30 investigated genes from patients with solid tumors; the sample preparation station proved to be extremely useful in shortening the processing time and preparation of samples for sequencing, which made the time required from receipt of samples to release of results to be approximately 7 days;
  • Circulating free DNA (cfDNA) was analyzed from peripheral blood samples received from 8 cancer patients, identifying mutations in 25 oncogenes;

Currently, at the level of the OncoGen Center, there is the possibility of performing about 100 more gene sequencing analyses.   

This successfully completed milestone brings us closer to achieving our goal of providing oncology patients with a personalized diagnosis and therapeutic guidance for the treatment of malignant tumors.