ew strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles.

Recruiting

Conditions: eye cancer
retinoblastoma
10083624
10030054

Registration Number: NL-OMON50529

Lead Sponsor: Vrije Universiteit Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 91

Inclusion Criteria

- Adult:
Group 1: germline mutation RB1
Group 2 (control): no germline mutation RB1
- Pediatric:
Group 1: mutation RB1 and retinoblastoma
Group 2 (control): no mutation RB1

Exclusion Criteria

- Adult:
Group 1: concomitant heritable (inherited) disorder other than caused by
monoallelic mutation of RB1
Group 2 (control): cancer or already known cancer predisposition syndrome
- Pediatric:
Group 1: concomitant heritable (inherited) disorder other than caused by
monoallelic mutation of RB1
Group 2: cancer or already known cancer predisposition syndrome

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- The development of a test which can detect cancers in the RB1-mutation<br /><br>carriers. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- The determination whether either the EV or the platelet-based technique<br /><br>performs superior as a test, or that both test will be complementary.<br /><br><br /><br>- The cell free DNA fraction will also be isolated from collected blood<br /><br>samples. This material will serve as part of an contingency plan when EV or<br /><br>platelet testing is not discriminative enough. Furthermore, if additional<br /><br>funding is acquired by the Curie site, cfDNA from patients with SPMs (10<br /><br>patients are expected with SPMs) will be used for additional testing. Results<br /><br>will be compared to germline DNA isolated from leukocytes present in the buffy<br /><br>coat and to second tumor material if available. The samples will be whole exome<br /><br>sequenced, combined with targeted sequencing of specific regions. For this<br /><br>study, involving whole genome sequencing, an extra consent form will be signed<br /><br>by the patients.</p><br>