Mutational Oncology in Clinical Practice

Study Overview
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Brief Summary
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The study of biological profiling is of fundamental importance in the diagnosis and treatment of many diseases, particularly oncological ones, and for this reason, the integration of molecular characterization into clinical practice becomes essential. NGS allows a high number of samples to be sequenced simultaneously, generating a great deal of genomic information in a short time and at reasonable cost. This information is of fundamental importance for the study of oncogenic drivers and gene alterations that may have a prognostic and/or predictive role in response to new molecularly targeted drugs. Policlinico A. Gemelli has begun a process of internal reorganization of the research infrastructure following its recognition in 2018 as an Institute of Hospitalization and Treatment with Scientific Character (IRCCS) for its commitment to the disciplines of Personalized Medicine and Innovative Biotechnology. In particular, with regard to genomics, will be equipped with a state-of-the-art technological asset that includes a fully automated process for sample preparation and the highest gene sequencing power available today. This condition makes it possible to perform extensive genomic profiling for large numbers of patients at low cost and in reasonable time.

Official Title
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Mutational Oncology in Clinical Practice: Development of a Comprehensive Cancer Genome Profile Pathway.

Conditions
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Genome Instability, Genetic Predisposition to Disease, Gene Rearrangement

Intervention / Treatment
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* Genetic: Diagnostic Test


Participation Criteria
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Eligibility Criteria
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- Patients with neoplasm of the lung, breast, ovary, pancreas, prostate, colorectum, melanoma, GIST, thyroid neoplasm, endometrium, and cholangiocarcinoma: BREAST Locally advanced or metastatic, hormone-responsive, HER2-negative breast neoplasm, progressing after endocrine therapy. LUNG Metastatic disease. OVARY Any stage of nonmucinous, non-borderline epithelial carcinoma of the ovary, fallopian tube, or primary peritoneal carcinoma. PANCREAS Metastatic disease. PROSTATE Metastatic castration-resistant disease. COLORECTUM Metastatic disease. MELANOMA Stage IV or stage III undergoing surgery. GIST Profiling of c-KIT in case of metastatic disease or for patients undergoing surgery and of PDGFRα for all patients with inoperable or metastatic disease. THYROID ENDOMETRIUM CHOLANGIOCARCINOMA

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Health Services Research
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Interventional<br> | Genetic: Diagnostic Test<br>* In order to proceed with molecular characterization, the tumor sample already taken for histological diagnosis will undergo DNA and RNA extraction, which will be analyzed for qualitative and quantitative evaluation. Based on the quantitative data, the method to be used for profiling will be decided. Multigenic genomic profiling will be performed for each patient on already taken tumor tissue using different panels depending on the quality and quantity of nucleic acids, in particular the following will be used: comprehensive Genome Profiling (CGP, ≥500 genes), if at least 40 ng of material is available; Profiling with identification of actionable mutations by targeted sequencing with panels of size >50 genes, if <40 ng material available.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comprehensive Genome Profiling | Evaluate the impact and efficacy of a 500 cancer genes profiling in an Italian referral centre | 5 years |