Currently, the molecular characterization of onco-hematological, onco-immunological and hematological diseases, at onset or in relapse, of patients with suspected diagnosis afferent to the CROP centers, is done through centralization of biological samples at reference laboratories outside the Tuscany Region. In order to preserve the wealth of clinical and biological data and use it for the benefit of present and future patients treated at the CROP centers, it is useful to evaluate the feasibility of centralization and molecular typing of mutations present in tumor tissue at the IRCCS AOU Meyer Oncohematology Laboratories and subsequently the analysis of clinical data from patients with diseases not under study to lay the foundations of a translational database that can then be associated with a biobank in the future. This will enable a targeted contribution to pediatric oncohematology research, investing in possible targeted therapies with those patient subgroups that benefit from personalized disease assessment in mind. The goal of the project is to improve the regional infrastructure dedicated to organized data collection and management of biological samples in adequate time resulting in better and more comprehensive data collection.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
SCREENING
Masking
NONE
Enrollment
340
The collected biological sample will be isolated and the specific nucleic acid (DNA/RNA/cfDNA) extracted for molecular analysis for understanding the reproducibility of the analysis and thus the feasibility of centralization: * hot spot on DNa (ddPCR/Sanger) * fusion genes on RNA (target resequencing) * Known mutation analysis by liquid biopsy (cfDNA) for somatic mutations with a mutation frequency of less than 10% * Tumor type-associated gene sequence analysis by Sanger sequencing and NGS
Meyer Children's Hospital IRCCS
Florence, Italy
RECRUITINGAzienda Ospedaliero-Universitaria Pisana
Pisa, Italy
RECRUITINGAzienda Ospedaliero-Universitaria Senese
Siena, Italy
RECRUITINGAverage sample delivery time and % of accepted sample
average sample delivery time and % of samples accepted within 48 ±12 hours of collection out of total samples sent
Time frame: After 5 year from the beginning of the study
Appropriateness sample labelling
% samples correctly labelled according to IATA criteria out of total samples accepted within 48 hours
Time frame: After 5 year from the beginning of the study
Percentage of sample suitable for RNA extraction
% samples suitable for RNA extraction out of total samples intended for RNA analysis
Time frame: After 5 year from the beginning of the study
Quantity and quality of extracted material.
% of samples valid for analysis in terms of quantity of extracted material (25 ng/ul for cfDNA, 25 ng per amplicon for genomic DNA, 100 ng tot for NGS) and quality, assessed as A260/280 ratio analysis (1.8-2 per DNA).
Time frame: After 5 year from the beginning of the study
Research report production time
research report production time (from 2 weeks for known mutation analysis to 6 months for NGS).
Time frame: After 5 year from the beginning of the study
Genetic variants
% variants validated with NGS and Sanger or in two independent experiments out of the total number of variants identified
Time frame: After 5 year from the beginning of the study
Completed patient cards
% of completed patient cards out of total patient cards of registered patients
Time frame: After 5 year from the beginning of the study
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