What Benefit of a Full Analysis of Exome? Routine Care Study in Patients With Solid Tumors

What Benefit of a Full Analysis of Exome? Routine Care Study in Patients With Solid Tumors

The management of cancers and their therapeutic guidance was until shortly mostly based on histopathological considerations of the tumor. the development of targeted therapies is a turning point and keeps increase. These molecules target a specific molecular defect in the tumor making it more effective and more specific treatment. But these treatments are only effective if the tumor has a specific molecular abnormality that is characterized and known.

These therapeutic progresses have been made possible through the decoding of the human genome and the molecular defects occurring during the carcinogenesis process. Now, dozens of therapies targeting a specific molecular abnormality are available in the therapeutic arsenal and dozens more are under development in clinical trials Phase 1 to 3.

In recent years, the democratization of next generation sequencing has opened a new era in cancer research but also for molecular diagnostics. Indeed, the enormous sequencing capabilities offered by high-throughput sequencing technologies allow analysis in a limited time the entire coding sequence of the genome (exome), or even the entire genome of a tumor (whole genome sequencing). Thus, the evolution and the development of broadband and associated bioinformatics tools for genomics techniques now make it possible to establish the genetic profile of a tumor. Targeted diagnosis of molecular abnormalities and allows to propose and specifically targeted direct therapeutic identified genetic alterations and supposedly responsible for tumor development. An analysis of tumor exome by next-generation sequencing (NGS) and provides information on genetic modifications of these tumors.

This study did not aim to evaluate a therapeutic strategy or treatment. The objective of this study is to evaluate the clinical benefit of an analysis of exome performed in current practice at the Centre Georges-François Leclerc from Dijon. The analysis will be performed by quantifying the number of patients undergoing therapeutic proposal based on the results of the analysis of the profile of the tumor.

Inclusion Criteria:

• over 18 years
• histological and cytological diagnosis of solid evidence of malignancy metastatic or locally advanced non-curable and non-curable
• Disease for which a treatment under the national standards do not exist or will not exist if it escapes the current treatment
• Availability of equipment or new tumor biopsy / puncture a feasible accessed injury (biopsiable disease), only if it is deemed necessary in the treatment by the investigator.
• Patient affiliated with a social security scheme
• Patient non opposition

Exclusion Criteria:

• No tumor material available for the establishment of the tumor profile.
• Patient refusal
• Psychiatric illness and / or patient condition compromising the understanding of the information or the conduct of the study
• Patient under guardianship or subject to major people protection regime