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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with suspected diagnostic onco-hematologic/immunologic disease | Other | All patients with suspected diagnostic onco-hematologic, onco-immunologic, and hematologic disease at onset or relapse. Patients undergo several procedures to complete the diagnostic process and eventually the staging of the disease |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Analysis of biological samples | Other | 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:
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 | 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 | 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 | 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). | 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). | After 5 year from the beginning of the study |
| Measure | Description | Time Frame |
|---|---|---|
| Genetic variants | % variants validated with NGS and Sanger or in two independent experiments out of the total number of variants identified | After 5 year from the beginning of the study |
| Completed patient cards |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Marinella Veltroni | Contact | 0555662606 | marinella.veltroni@meyer.it |
| Name | Affiliation | Role |
|---|---|---|
| Marinella Veltroni | Meyer Children's Hospital IRCCS | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Meyer Children's Hospital IRCCS | Recruiting | Florence | Italy |
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| ID | Term |
|---|---|
| D006402 | Hematologic Diseases |
| ID | Term |
|---|---|
| D006425 | Hemic and Lymphatic Diseases |
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|
% of completed patient cards out of total patient cards of registered patients
| After 5 year from the beginning of the study |
| Azienda Ospedaliero-Universitaria Pisana | Recruiting | Pisa | Italy |
|
| Azienda Ospedaliero-Universitaria Senese | Recruiting | Siena | Italy |
|