Molecular Characterization of Genetic Alterations in Pediatric Solid Tumors
NCT ID: NCT04773808
Last Updated: 2021-02-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
100 participants
OBSERVATIONAL
2021-02-01
2026-02-01
Brief Summary
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The emergence of new molecular techniques has generated a great advance in the field of solid tumors, particularly in the molecular definition of groups of patients. This fact makes tailor-made treatment feasible, according to the biology of the tumor.
In particular, in children, the identification of treatment targets is especially important since it may avoid unnecessary sequel in a growing child. This project allows the articulation between basic and clinical research groups, thus consolidating the objective of basic translational research and generating both clinical and basic knowledge about the pathogenesis of pediatric solid tumors in our country.
Aim: To standardize and implement a comprehensive multi-level molecular strategy, using medium and high complexity techniques, for the detection of molecular alterations in primary pediatric solid tumors (neuroblastoma, rhabdomyosarcoma, Ewing sarcoma family tumors, soft tissue sarcomas and CNS tumors (gliomas and embryonal)), that can be applied to the diagnosis, prognosis and/or use of targeted therapies against molecular targets in order to provide a tailored therapeutic opportunity.
Material and methods: Pediatric cases of solid tumors will be enrolled prospectively. Based on the statistics of the participating centers, 100 samples will be included. From each case, a formalin fixed biopsy will be available and when possible, a fragment will also be preserved at -70ºC. Clinical and follow-up data will be obtained from the clinical records.
The methodological approaches include: 1) Immunohistochemical detection of tumor lineage determinant markers, some of them with predictive value. 2) FISH (fluorescence in situ hybridization) with break-apart strategy for genes involved in recurrent chromosomal translocations and locus-specific design probes for other unbalanced structural chromosomal structural alterations (amplifications and deletions of genes or chromosomal segments). 3) Real time (RT)-polymerase chain reaction (PCR) detection of fusion transcripts resulting from chromosomal translocations. 4) Quantitative polymerase chain reaction (qPCR) and Sanger sequencing analysis of single nucleotide polymorphisms (SNPs) as targets for therapy. 5) Sanger sequencing analysis of fusions, ins/del as a complement to RT-PCR or FISH (fluorescence in situ hybridization), 6) Next Generation Sequencing (NGS) with a specific and customized panel containing all necessary genes to define a tumor´s genomic mutation profile for diagnosis, risk stratification and prognosis of pediatric tumors. However, NGS sequencing will only be applied in those cases which could not be resolved with the previous strategies or cases with poor evolution
Based on the above analyses, an integrated analysis algorithm will be developed according to WHO recommendations, but adapted to the facilities of the institution. Molecular findings will be correlated with clinical and histological data
Detailed Description
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Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
2. The patient or his/her legal guardian, as appropriate, must provide written informed consent within 30 days of the removal of the first collection of tissue sample for this protocol.
3. The patient is being seen at Hospital de Niños R Gutierrez or at a collaborating institution.
4. Patients must be less than or equal to 18 years old at the time of enrollment.
Exclusion Criteria
2. written informed consent is not obtained.
18 Years
ALL
No
Sponsors
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National Council of Scientific and Technical Research, Argentina
OTHER_GOV
Responsible Party
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Maria Victoria Preciado
Director of Multidisciplinary Institute for Research of Pediatric Pathologies
Locations
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Maria Victoria Preciado
Buenos Aires, , Argentina
Countries
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Central Contacts
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Facility Contacts
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Maria Victoria Preciado, Ph.D
Role: primary
Other Identifiers
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Solid Tumors 2020
Identifier Type: -
Identifier Source: org_study_id