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.
Diagnostic suspicion of oncologic, hematologic or onco-immunologic disease
Suspected recurrence of oncological, onco-hematological, hematological or onco -immunological disease
Availability of biological material
Signature of informed consent
Failure to sign the consent
Insufficiency of biological material for analysis
Patients with HIV, HCV and HBV seropositivity (HBSAg) due to biohazard and bias related to patients' immunological status that could influence gene expression and tumor behavior.
Single group
Analysis of biological samples
Other interventionThe 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
Average 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
Appropriateness sample labelling
% samples correctly labelled according to IATA criteria out of total samples accepted within 48 hours
Percentage of sample suitable for RNA extraction
% samples suitable for RNA extraction out of total samples intended for RNA analysis
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).
Genetic variants
% variants validated with NGS and Sanger or in two independent experiments out of the total number of variants identified
Completed patient cards
% of completed patient cards out of total patient cards of registered patients
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