Choroidal Melanoma, Diffuse
Conditions
Keywords
Circulating tumor DNA, Choroidal Melanoma
Brief summary
Circulating tumor DNA detection and quantification in patients with metastatic choroidal melanoma.
Detailed description
Technique development: In first step, the different available techniques will be evaluated for specificity and sensibility using serial dilutions of cell lines with or without GNAQ mutation. Validation: The tumor DNA detection rate will be estimated from metastatic uveal patient's blood. The investigators will study 40 patients to obtain at least 15 patients bearing a GNAQ mutation in the primitive tumor or in metastasis. With those 15 patients, the investigators will determinate the most sensitive technique and the best cost/efficiency ratio.
Interventions
BIOLOGICALBlood sampling
30ml of patient peripherical blood will be collected
Sponsors
Institut Curie
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age \> or = 18 years. * Patient with a metastatic choroidal melanoma. * Patient with tumor or metastasis available for GNAQ (Guanine nucleotide blinding protein) status characterization. * Patient able to stand a blood collection. * Signed written informed consent approved by competent authority and ethic committee.
Exclusion criteria
* Patient without social protection/insurance. * Current pregnancy and lactation. * All social, medical, psychological, situations making the study impossible. * Person deprived of liberty.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assessment and development of circulating tumor DNA detection techniques | 2 years | Quantification of circulating tumor DNA in blood samples. Results expressed in number of samples where circulating DNA is present. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Detection technique comparison (PAP (pyrophosphorolysis activated polymerisation), BEAMing, NGS(next sequencing generation)) in terms of feasibility, robustness, sensitivity and cost. | 2 years | The methods of detection which will be used such as the BEAMing, the PAP (Pyrophosphorolysis-activated polymerization) and NGS (next sequencing generation)is techniques of a big specificity capable of detecting a mutant copy among 1.104 wild copies for the BEAMing, 2.109 for the PAP and 1.105 for the NGS. The sensibility of these techniques is limited by the quantity of genomic DNA which we can extract from the sample of blood. |
Countries
France
Outcome results
None listed