Hematologic Diseases, Oncologic Disease
Conditions
Brief summary
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.
Interventions
OTHERAnalysis of biological samples
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
Sponsors
Meyer Children's Hospital IRCCS
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
0 Years to 30 Years
Healthy volunteers
No
Inclusion criteria
* 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 * Age between 0 and 30 years
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Appropriateness sample labelling | After 5 year from the beginning of the study | % samples correctly labelled according to IATA criteria out of total samples accepted within 48 hours |
| Quantity and quality of extracted material. | After 5 year from the beginning of the study | % 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). |
| Research report production time | After 5 year from the beginning of the study | research report production time (from 2 weeks for known mutation analysis to 6 months for NGS). |
| Average sample delivery time and % of accepted sample | After 5 year from the beginning of the study | average sample delivery time and % of samples accepted within 48 ±12 hours of collection out of total samples sent |
| Percentage of sample suitable for RNA extraction | After 5 year from the beginning of the study | % samples suitable for RNA extraction out of total samples intended for RNA analysis |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Completed patient cards | After 5 year from the beginning of the study | % of completed patient cards out of total patient cards of registered patients |
| Genetic variants | After 5 year from the beginning of the study | % variants validated with NGS and Sanger or in two independent experiments out of the total number of variants identified |
Countries
Italy
Contacts
Primary ContactMarinella Veltroni
Outcome results
None listed