Tumors, a national program for free access to the most advanced genomic tests is underway
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From today there is a national program to offer – free of charge for cancer patients and hospitals – access to the most advanced genomic tests. Objective: to identify the NTRK fusion, a mutation that allows treatment with so-called “agnostic” drugs – which can be administered independently of the organ affected by the tumor – and other target mutations that can be treated with targeted drugs. The program is called FastNTRK (pronounced ‘fast and track’) and is being launched today by the Edo and Elvo Tempia Foundation of Biella, in collaboration with the pharmaceutical company Bayer.
What is NTRK mutation
The fusion of NTRK (neurotrophic tyrosine kinase receptor) genes with other genes is a genetic abnormality that causes the production of a defective protein (called TRK fusion protein). This altered protein fuels the growth and spread of tumors, regardless of where they originate. NTRK fusion is identified, in variable percentages, in various solid tumors in adults and children, in particular in those of the lung, thyroid, gastrointestinal tract – colon, rectum, cholangiocarcinoma, pancreas and appendix -, in sarcomas, in tumors of the central nervous system (glioma and glioblastoma) and of the salivary glands.
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How the FastNTRK program will work
The FastNTRK program is aimed at all hospitals for their cancer patients in which, in a first simple screening test, TRK proteins have been overexpressed, which could be either “normal” or abnormal. To find out whether the NTRK fusion is at the origin of these proteins or not, the NGS gene sequencing test is necessary. The oncologists will then be able to use an online platform on which to book the NGS test: at that point, the tumor biological sample is collected from the hospital itself and sent to the molecular oncology laboratory of the Tempia Foundation (certified according to the standards); doctors can track the progress of the delivery and receive the report in 10 working days. In addition to the presence or absence of the NTRK fusion, the laboratory will also report the presence of other clinically useful changes. in lung cancer, for example, today 10 molecular alterations are known for which targeted therapies are approved.
The situation in Italy
Compared to a European average of 10%, in Italy a very limited number of pathological oncology analyzes are performed with NGS (Next Generation Sequencing) extended sequencing technology, which makes it possible to evaluate multiple mutations simultaneously. And, needless to say, there are strong regional disparities. “The NGS Next Generation Gene Sequencing test is the most advanced and provides the most extensive insight into a large number of gene alterations and can detect NTRK gene fusions, as well as other alterations, even from minute amounts of tissue” , explains Carmine Pinto, Director of Medical Oncology, Comprehensive Cancer Centre, AUSL-IRCCS of Reggio Emilia and President of the Federation of Italian Cooperative Oncology Groups (FICOG). Molecular profiling with ngs requires two elements: having the technology available and having the resources to use it. “In our country – says Pinto – things went in random order: there was no national governance either for the laboratories or for the expenses”.
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In the specific case of lung cancer, there is an ad hoc fund for NGS tests which amounts to 5 million euros for 2023. “It is certainly important – continues Pinto – but not sufficient. Suffice it to say that it allows for the evaluation of only 4,348 patients with metastatic adenocarcinoma of the lung compared to the estimated 16,460 cases for this neoplasm. In addition, the approximately 10,000 cases of advanced cancer from other sites for which there are no effective treatments in advanced lines of therapy, or of unknown origin should also be tested. To this figure must be added 600,000 euros for patients with cholangiocarcinoma for the three-year period 2023-25.
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Overall, however, reports the expert, to evaluate the more than 26,000 patients identified each year with NGS, funding of around 37.5 million euros would be needed. “An adequate NGS fund is an important condition for recovering the gap shown compared to other European countries in the use of tests. But still not enough. It is essential to organize, in each region, a network of reference centers equipped with suitable technologies and highly qualified personnel for carrying out this type of analysis. Finally, the networks of molecular biology laboratories will have to be integrated into the regional oncology networks. The ‘FastNTRK’ program is extremely useful, because it allows closing gaps in the system, in the absence of clear governance of biomarker tests”.
The advantages of NGS
The molecular biology analysis techniques depend on the type of alterations to be searched for and on the nature of the biological sample available. But what is the difference between the “classical” molecular tests and the NGS ones? “Standard technologies evaluate only one biomarker per analysis, while the most recent Next Generation Sequencing techniques allow the simultaneous identification of genetic alterations of different nature, such as mutations, amplifications and gene fusions, in numerous genes in a single analysis”, replies Maria Scatolini, Director of the molecular oncology laboratory of the Tempia Foundation in Biella and member of the Molecular Tumor Board of the Oncological Network of Piedmont and Valle d’Aosta. It is therefore important to resort to NGS for tumors in which many markers are known, with a view to optimizing resources and not “wasting” the biological sample, due to a wrong choice of the method with which to analyze it. For this reason, close collaboration between the pathological anatomy of the center and the laboratory is also important. “There are cases – says Scatolini – in which we receive biopsies of primary tumors from 7 years ago. But tumors evolve, also in function of the treatments carried out, and it is therefore essential to be able to conduct tests on recent biopsies and metastases”.
Therapies for NTRK fusion tumors
NTRK fusions constitute a paradigmatic example of gene alteration, transversal to multiple histologies, explains Pinto: “The identification of tumors carrying these gene rearrangements is fundamental for the selection of patients who can benefit from treatment with targeted drugs, which produce rapid responses, with a relevant and long-lasting clinical benefit, regardless of the patient’s age and the site of the tumour. These drugs are already being reimbursed in Italy and the latest data continue to demonstrate robust and long-lasting clinical benefit as in the case of larotrectinib, even in adult patients with advanced lung cancer with NTRK fusion, including patients with brain metastases, with overall survival median of 40 months”.
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“Cancer treatment is facing a paradigm shift and has entered the new era of precision oncology”, concludes Marius Moscovici, Head of Medical Affairs Oncology at Bayer Italia, who says she is proud to support FastNTRK’– . Although NTRK translocations are a very rare genetic alteration, we are committed to supporting research through a free testing program to offer patients an important therapeutic opportunity”.
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