GENomic PROfilation for Therapeutic Purposes in SARComas and Molecular Tumor Board (MTB): Retrospective/Prospective Study in Referral Centers

Arms (0)

Primary outcomes (2)

1. measure

   Evaluate interest and feasibility in carrying out genomic profilingfor building two databases data collection

   timeFrame

   Baseline

   description

   Specific center database: Existence or otherwise of an MTB in the participating structure, composition of the MTB, methods of access to off-label drugs used by the centre, management of incidental findings. Patient specific database: Identification code, demographic data (age, ethnic origin), histological diagnosis, date of onset disease, stage of disease, any molecular tests performed to define the histotype diagnosis, adjuvant therapy, number of antineoplastic treatments carried out for the disease advanced, date of last recurrence of disease, molecular profile identified, date of presentation to MTB, type of molecular analysis required by MTB, presence or absence of therapeutic target e description of the target identified if present, type of treatment undertaken following the analysis genomics, method of access to the drug for the specific patient, starting date of treatment on a basis molecular, response to treatment, progression-free survival, overall survival.

2. measure

   Extended molecular profile

   timeFrame

   Baseline

   description

   Analysis of the inclusion of tissue in FFPE relating to the neoplasm under examination. RNA and DNA extraction from FFPE tissue will be performed using the kits dedicated qiagen. The NGS analysis will be carried out using a panel of 500 genes, described as oncogenic drivers, starting from 20 ng of nucleic acid, using preparation reagents of the libraries and for sequencing the OCA PLUS Thermofisher Scientific kit, following the protocols indicated by the manufacturer. The same kit allows the evaluation tumor mutational burden (TMB), microsatellite instability (MSI) and gene defects PROGEN\_SARC Version no. 2.0 - 14.06.2022 11/15 of homologous recombination (HRR) including loss of heterozygosity (LOH).