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MTB

The Molecular Tumor Board (MTB) at the Regina Elena National Cancer Institute (IRE) is active since September 2018.
During the last year, our MTB consolidated its reputation within Regione Lazio by stably expressing recommendations for the treatment of complex, intramural but also external, clinical cases. Particularly, during 2020, 22 MTB sessions, at 15-day intervals, have been made. Overall, 23 neoplastic patients bearing common (e.g. lung, colorectal, breast carcinomas) or rare (e.g. sarcomas) cancers with no therapeutic options left have been analyzed. In all cases, after a revision of the clinical history and the available genomic data, the MTB requested additional molecular testing, most often based on massive parallel sequencing. Next Generation Sequencing (NGS) was carried out in-house by small targeted panels (e.g. 50 genes) and genome-wide (Whole Exome Sequencing, WES) approaches, or by outsourcing from prime International NGS Service Providers (e.g. Foundation Medicine). Particular care was exercised in selecting the analyte (or analyte combination) most suitable for each individual patient. Either or both tissue and circulating DNA (tDNA and ctDNA) were used to investigate the genomic profile of patients, often through the implementation of serial blood drawings and/or, when ethically acceptable, tissue re-biopsy. Digital PCR (dPCR) custom assays were designed, validated and deployed when no commercial solutions were available in order to confirm the presence of a specific tumor alteration. Immunohistochemistry (e.g. PD-L1 status) and in situ hybridization (e.g. FGFR1 amplification or ROS1 fusion) were also requested and applied in some cases. All the collected data were integrated as orthogonal confirmatory measures and/or evaluated as self-standing assays. Non-standard assays were backed up by (and integrated with) CE-IVD testing whenever possible. In 14 cases (61%), at least one peculiar molecular alteration associated with a potential, additional tumor vulnerability was identified. Following MTB case review, a non-standard targeted therapy (mostly OncoKB levels 3A and 3B) was recommended for 11 patients (48%). In 2 colorectal cancer patients identification of EGFR mutations strongly suggested the discontinuation of the ongoing standard line of therapy.

It is important to acknowledge that all the costs associated with supplemental genomic analyses were entirely covered by the Regina Elena Institute. None of the patients was requested to pay, or incurred in any disbursement for any kind of molecular testing, or for the purchase and administration of the selected drugs. In specific situations, when applicable, the MTB entertained a collaborative effort with the Italian National and local Health Authorities to obtain special permits and economical support finalized to free drug administration. Additional collaborative efforts are in progress to extend the MTB approach.