There are several projects with which Alleanza Contro il Cancro is contributing to the development of HBD.
The following six are currently uploaded to the system.
Melanoma. The study involves the analysis of the feasibility of using a single gene panel for the simultaneous analysis of risk variants and somatic mutations in initially diagnosed melanoma patients. Samples from 132 patients were analysed.
Lung. The objective is the development of radiogenomic models for the multi-centre validation of the ACC-Lung study sequences and the development of radiomic models predictive of treatment response and survival rates. The study is designed to measure the sensitivity and specificity of the Network’s Lung Gene Panel as a tool for molecular screening compared to standard methods.
Rationale. It constitutes the radiomic sub-study of the ACC-Lung project: the data consists of computerised tomography images in dicom format, appropriately segmented, highlighting on each of them the area of the tumour, i.e. the ROI (region of interest), from which the radiomic features of interest can be extracted. There are plans to validate the ACC-Lung panel with genomic data from 1,000 patients, and to develop radiomic models with data from 200 patients.
Record. The objective is the development and multi-centre validation of radiomic models of real world data in locally advanced rectal cancer undergoing neoadjuvant chemotherapy treatment. The radiological data available to the ACC Record project consists of magnetic resonance images in dicom format, acquired at field strengths of 1.5T and 3T, appropriately segmented by highlighting on each of them the area of the tumour, i.e. the ROI, from which the radiomic features of interest can be extracted. In particular, ROI data is stored in RTstruct type dicom files. Data pertaining to 1,003 patients is available on the platform.
GerSom. GerSom aims to test the feasibility of a simultaneous analysis of the mutational profile of both genetic predisposition to risk and actionability, i.e. the possibility of modulating treatment on the basis of molecular biomarkers. In addition to the primary endpoint, i.e. validation of the clinical accuracy of a customised NGS sequencing panel, GerSom aims to build a data and sample collection platform for further exploratory analyses, i.e. RNAseq, estimation of polygenic risk scores, liquid biopsy for minimal residual disease and radiomics. It is one of the largest prospective studies of its kind, with a target enrolment of 4,000 patients in 3 high-prevalence and high-incidence hereditary-family diseases (ovarian, breast and colorectal cancer).
UNIC. UNIC aims to increase our knowledge of rare and difficult-to-manage diseases (breast angiosarcoma, cholangiocarcinoma, neuroendocrine tumours, thymic carcinomas, merkeliomas), due to the scarcity of genomic data in the literature.
